(Q26865440)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25205257%20AND%20SRC:MED&resulttype=core&format=json

16 February 2020

review article

1 reference

title

Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia (English)

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25205257%20AND%20SRC:MED&resulttype=core&format=json

amino acid metabolic disorder

16 February 2020

main subject

2 references

24 March 2019

22 April 2019

2 references

24 March 2019

22 April 2019

0 references

Matthias R Baumgartner

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25205257%20AND%20SRC:MED&resulttype=core&format=json

16 February 2020

Carlo Dionisi-Vici

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25205257%20AND%20SRC:MED&resulttype=core&format=json

16 February 2020

Martina Huemer

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25205257%20AND%20SRC:MED&resulttype=core&format=json

16 February 2020

Diana Ballhausen

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25205257%20AND%20SRC:MED&resulttype=core&format=json

16 February 2020

Tomáš Honzík

15

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25205257%20AND%20SRC:MED&resulttype=core&format=json

16 February 2020

5

Daniela Karall

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25205257%20AND%20SRC:MED&resulttype=core&format=json

16 February 2020

8

Michel Hochuli

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25205257%20AND%20SRC:MED&resulttype=core&format=json

16 February 2020

11

Alberto Burlina

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25205257%20AND%20SRC:MED&resulttype=core&format=json

16 February 2020

12

Brian Fowler

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25205257%20AND%20SRC:MED&resulttype=core&format=json

16 February 2020

13

Sarah C Grünert

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25205257%20AND%20SRC:MED&resulttype=core&format=json

16 February 2020

14

Stephanie Grünewald

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25205257%20AND%20SRC:MED&resulttype=core&format=json

16 February 2020

16

Begoña Merinero

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25205257%20AND%20SRC:MED&resulttype=core&format=json

16 February 2020

18

Sabine Scholl-Bürgi

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25205257%20AND%20SRC:MED&resulttype=core&format=json

16 February 2020

20

Frits Wijburg

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25205257%20AND%20SRC:MED&resulttype=core&format=json

16 February 2020

22

Diego Martinelli

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25205257%20AND%20SRC:MED&resulttype=core&format=json

16 February 2020

author name string

Friederike Hörster

2

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25205257%20AND%20SRC:MED&resulttype=core&format=json

16 February 2020

Goknur Haliloglu

4

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25205257%20AND%20SRC:MED&resulttype=core&format=json

16 February 2020

Kimberly A Chapman

6

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25205257%20AND%20SRC:MED&resulttype=core&format=json

16 February 2020

Murielle Assoun

9

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25205257%20AND%20SRC:MED&resulttype=core&format=json

16 February 2020

Celia Pérez-Cerdá

17

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25205257%20AND%20SRC:MED&resulttype=core&format=json

16 February 2020

Anita MacDonald

21

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25205257%20AND%20SRC:MED&resulttype=core&format=json

16 February 2020

Jörn Oliver Sass

23

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25205257%20AND%20SRC:MED&resulttype=core&format=json

16 February 2020

Anupam Chakrapani

25

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25205257%20AND%20SRC:MED&resulttype=core&format=json

16 February 2020

Flemming Skovby

19

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25205257%20AND%20SRC:MED&resulttype=core&format=json

16 February 2020

Vassili Valayannopoulos

24

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25205257%20AND%20SRC:MED&resulttype=core&format=json

16 February 2020

language of work or name

1 reference

2 September 2014

4 references

24 March 2019

22 April 2019

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25205257%20AND%20SRC:MED&resulttype=core&format=json

Orphanet Journal of Rare Diseases

16 February 2020

published in

4 references

24 March 2019

22 April 2019

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25205257%20AND%20SRC:MED&resulttype=core&format=json

16 February 2020

volume

9

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25205257%20AND%20SRC:MED&resulttype=core&format=json

16 February 2020

page(s)

130

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25205257%20AND%20SRC:MED&resulttype=core&format=json

Creative Commons Attribution

16 February 2020

copyright license

2 references

24 March 2019

22 April 2019

0 references

on focus list of Wikimedia project

ScienceSource

0 references

exact match

https://scigraph.springernature.com/pub.10.1186/s13023-014-0130-8

0 references

cites work

Mutations in ABCD4 cause a new inborn error of vitamin B12 metabolism

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4180313

Childhood outcomes after hypothermia for neonatal encephalopathy

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4180313

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4180313

Enteral versus parenteral nutrition for acute pancreatitis

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4180313

FRAX and the assessment of fracture probability in men and women from the UK

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4180313

High incidence of propionic acidemia in greenland is due to a prevalent mutation, 1540insCCC, in the gene for the beta-subunit of propionyl CoA carboxylase

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4180313

Genetics of propionic acidemia in a Mennonite-Amish kindred

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4180313

N219Y, a new frequent mutation among mut(degree) forms of methylmalonic acidemia in Caucasian patients

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4180313

Targeting proximal tubule mitochondrial dysfunction attenuates the renal disease of methylmalonic acidemia

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4180313

Evidence for catabolic pathway of propionate metabolism in CNS: expression pattern of methylmalonyl-CoA mutase and propionyl-CoA carboxylase alpha-subunit in developing and adult rat brain

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4180313

Renal transplant in methylmalonic acidemia: could it be the best option? Report on a case at 10 years and review of the literature

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4180313

Breast feeding in organic acidaemias

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4180313

Liver transplantation is not curative for methylmalonic acidopathy caused by methylmalonyl-CoA mutase deficiency

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4180313

Methylmalonic and propionic aciduria

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4180313

CT and MR of the brain in disorders of the propionate and methylmalonate metabolism

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4180313

Increased urinary metabolite excretion during fasting in disorders of propionate metabolism

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4180313

Chronic kidney disease in an adult with propionic acidemia.

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4180313

Pharmacological chaperones as a potential therapeutic option in methylmalonic aciduria cblB type

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4180313

Renal growth in isolated methylmalonic acidemia

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4180313

Propionic acidemia: clinical course and outcome in 55 pediatric and adolescent patients

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4180313

Home enteral tube feeding in children with inherited metabolic disorders: a review of long-term carer knowledge and technique

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4180313

ESC guidelines for the diagnosis and treatment of acute and chronic heart failure 2012: The Task Force for the Diagnosis and Treatment of Acute and Chronic Heart Failure 2012 of the European Society of Cardiology. Developed in collaboration with the

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4180313

Renal dysfunction in methylmalonic acidurias: review for the pediatric nephrologist

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4180313

Neurocognitive phenotype of isolated methylmalonic acidemia

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4180313

Neurologic considerations in propionic acidemia.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4180313

Acute management of propionic acidemia.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4180313

Natural history of propionic acidemia

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4180313

Preoperative dialysis for liver transplantation in methylmalonic acidemia

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4180313

Chronic management and health supervision of individuals with propionic acidemia.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4180313

Nutrition in phenylketonuria

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4180313

28 September 2017

Chronic kidney disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4180313

Methylmalonic acidemia and hyperglycemia: an unusual association

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4180313

Gene therapy in a murine model of methylmalonic acidemia using rAAV9-mediated gene delivery

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4180313

Liver transplantation for propionic acidemia in children

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4180313

MR spectroscopy-based brain metabolite profiling in propionic acidaemia: metabolic changes in the basal ganglia during acute decompensation and effect of liver transplantation

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4180313

Diagnosis and management of glutaric aciduria type I--revised recommendations

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4180313

Case report: birth of healthy twins after preimplantation genetic diagnosis of propionic acidemia

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4180313

Variable dietary management of methylmalonic acidemia: metabolic and energetic correlations

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4180313

Chronic pancreatitis in branched-chain organic acidurias--a case of methylmalonic aciduria and an overview of the literature

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4180313

N-carbamylglutamate augments ureagenesis and reduces ammonia and glutamine in propionic acidemia

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4180313

The molecular landscape of propionic acidemia and methylmalonic aciduria in Latin America

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4180313

Errors in emergency feeds in inherited metabolic disorders: a randomised controlled trial of three preparation methods

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4180313

Liver-directed recombinant adeno-associated viral gene delivery rescues a lethal mouse model of methylmalonic acidemia and provides long-term phenotypic correction

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4180313

Epilepsy in patients with propionic acidemia

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4180313

Liver cell transplantation in children

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4180313

Long-term rescue of a lethal murine model of methylmalonic acidemia using adeno-associated viral gene therapy

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4180313

Propionic acidemia: case report and review of neurologic sequelae

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4180313

Medical management and dialysis therapy for the infant with an inborn error of metabolism

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4180313

Methylmalonic acidemia: brain imaging findings in 52 children and a review of the literature

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4180313

Causes of and diagnostic approach to methylmalonic acidurias.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4180313

Gene identification for the cblD defect of vitamin B12 metabolism

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4180313

Carglumic acid: an additional therapy in the treatment of organic acidurias with hyperammonemia?

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4180313

Combined liver-kidney transplant for the management of methylmalonic aciduria: a case report and review of the literature

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4180313

Methylmalonic acidaemia: examination of genotype and biochemical data in 32 patients belonging to mut, cblA or cblB complementation group.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4180313

Neurodegeneration and chronic renal failure in methylmalonic aciduria--a pathophysiological approach

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4180313

Auxiliary liver transplantation for propionic acidemia: a 10-year follow-up.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4180313

Long-term outcome in methylmalonic acidurias is influenced by the underlying defect (mut0, mut-, cblA, cblB).

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4180313

Current role of liver transplantation for methylmalonic acidemia: a review of the literature

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4180313

Evaluation and management of patients with propionic acidemia undergoing liver transplantation: a comprehensive review

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4180313

Intrathecal baclofen therapy in children

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4180313

Involvement of recognition and interaction of carnitine transporter in the decrease of L-carnitine concentration induced by pivalic acid and valproic acid

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4180313

'Classical' organic acidurias, propionic aciduria, methylmalonic aciduria and isovaleric aciduria: long-term outcome and effects of expanded newborn screening using tandem mass spectrometry.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4180313

Nutrition therapy of organic acidaemias with amino acid-based formulas: emphasis on methylmalonic and propionic acidaemia

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4180313

Identification of the gene responsible for methylmalonic aciduria and homocystinuria, cblC type

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4180313

Liver transplantation for inborn errors of metabolism

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4180313

Spectrum of mutations in mut methylmalonic acidemia and identification of a common Hispanic mutation and haplotype

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4180313

Methylmalonic and propionic acidaemias: management and outcome

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4180313

Genetic analysis of three genes causing isolated methylmalonic acidemia: identification of 21 novel allelic variants

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4180313

Assessment of fracture risk

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4180313

Mutation analysis of the MMAA and MMAB genes in Japanese patients with vitamin B(12)-responsive methylmalonic acidemia: identification of a prevalent MMAA mutation

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4180313

Protein and amino acid requirements and the composition of complementary foods

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4180313

Propionic acidemia: a neuropathology case report and review of prior cases

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4180313

Emergency management of inherited metabolic diseases

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4180313

Multi-slice proton MR spectroscopy and diffusion-weighted imaging in methylmalonic acidemia: report of two cases and review of the literature.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4180313

Neurological outcome of methylmalonic acidaemia

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4180313

Clinical outcome and long-term management of 17 patients with propionic acidaemia.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4180313

Magnetic resonance imaging and spectroscopy of the brain in propionic acidemia: clinical and biochemical considerations

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4180313

Pancreatitis in patients with organic acidemias

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4180313

Mutations participating in interallelic complementation in propionic acidemia

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4180313

Clinical outcome of long-term management of patients with vitamin B12-unresponsive methylmalonic acidemia

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4180313

Neuropathology of propionic acidemia: a report of two patients with basal ganglia lesions

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4180313

Unusual presentations of propionic acidemia

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4180313

Propionic acidemia: a clinical update

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4180313

L-carnitine enhances excretion of propionyl coenzyme A as propionylcarnitine in propionic acidemia

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4180313

Hudson memorial lecture. Neonatal management of organic acidurias. Clinical update

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4180313

The Natural History of the Inherited Methylmalonic Acidemias

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4180313

A patient with propionic acidemia managed with continuous insulin infusion and total parenteral nutrition

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4180313

Genetically determined protein polymorphism in the rabbit nervous system

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4180313

Reversible diffusion weighted imaging changes in propionic acidemia.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4180313

Monitoring of intraportal liver cell application in children

31 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4180313

Effect of oral antibiotics on intestinal production of propionic acid

31 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4180313

Neurologic nonmetabolic presentation of propionic acidemia

31 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4180313

Implantable central venous access devices in children with metabolic disease

31 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4180313

Molecular prophets of death in the fly.

31 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4180313

Assessment of energy expenditure in metabolic disorders

31 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4180313

The effects of spiramycin and/or scaling on advanced periodontitis in humans.

31 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4180313

Absence of acidosis in the initial presentation of propionic acidaemia

31 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4180313

Acute basal ganglia infarction in propionic acidemia

31 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4180313

Neonatal-onset propionic acidemia: neurologic and developmental profiles, and implications for management.

31 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4180313

Propionylcarnitine excretion in propionic and methylmalonic acidurias: a cause of carnitine deficiency.

31 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4180313

Neurologic outcome in children with inborn errors of urea synthesis. Outcome of urea-cycle enzymopathies.

31 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4180313

Propionicacidemia (ketotic hyperglycinemia): dietary treatment resulting in normal growth and development.

31 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4180313

Metabolic studies of carnitine in a child with propionic acidemia

31 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4180313

Renal tubular dysfunction in methylmalonic acidaemia

31 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4180313

Carnitine therapy and metabolism in the disorders of propionyl-CoA metabolism studied using 1H-NMR spectroscopy

31 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4180313

Interaction of Carnitine and Propionate with Pyruvate Oxidation by Hepatocytes from Clofibrate-Treated Rats: Importance of Coenzyme A Availability

31 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4180313

Decreased selenium intake and low plasma selenium concentrations leading to clinical symptoms in a child with propionic acidaemia

31 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4180313

Case reports of successful pregnancy in women with maple syrup urine disease and propionic acidemia

31 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4180313

Prenatal Diagnosis of Propionic Acidemia

31 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4180313

E. coli sepsis as a presenting sign in neonatal propionic acidemia.

31 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4180313

Continuous venovenous haemodialysis (CVVHD) and continuous peritoneal dialysis (CPD) in the acute management of 21 children with inborn errors of metabolism

31 May 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13023-014-0130-8

Diagnostic work-up and management of patients with isolated methylmalonic acidurias in European metabolic centres

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13023-014-0130-8

Propionic acidemia mimicking diabetic ketoacidosis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13023-014-0130-8

N-carbamylglutamate in emergency management of hyperammonemia in neonatal acute onset propionic and methylmalonic aciduria.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13023-014-0130-8

Prediction of outcome in isolated methylmalonic acidurias: combined use of clinical and biochemical parameters.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13023-014-0130-8

Epilepsy in children with methylmalonic acidemia: electroclinical features and prognosis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13023-014-0130-8

Stroke-like episodes in propionic acidemia caused by central focal metabolic decompensation

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13023-014-0130-8

Propionic acidemia associated with visual hallucinations.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13023-014-0130-8

Acute psychosis in propionic acidemia: 2 case reports.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13023-014-0130-8

Coincidence of long QT syndrome and propionic acidemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13023-014-0130-8

Clinical, pathological, and biochemical studies in a patient with propionic acidemia and fatal cardiomyopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13023-014-0130-8

Cardiomyopathies in propionic aciduria are reversible after liver transplantation

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13023-014-0130-8

Liver transplantation in a patient with propionic acidemia requiring extra corporeal membrane oxygenation during severe metabolic decompensation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13023-014-0130-8

Methylmalonic aciduria: follow-up and enzymology on the original case after 36 years.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13023-014-0130-8

Long-term outcome in methylmalonic aciduria: a series of 30 French patients.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13023-014-0130-8

Peritoneal dialysis for chronic renal failure in a patient with methylmalonic acidaemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13023-014-0130-8

Clinical onset and prognosis of Asian children with organic acidemias, as detected by analysis of urinary organic acids using GC/MS, instead of mass screening

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13023-014-0130-8

Propionic acidemia: unusual course with late onset and fatal outcome

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13023-014-0130-8

An unusual late-onset case of propionic acidaemia: biochemical investigations, neuroradiological findings and mutation analysis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13023-014-0130-8

Late onset optic neuropathy in methylmalonic and propionic acidemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13023-014-0130-8

Optic nerve atrophy in propionic acidemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13023-014-0130-8

45-Year-old female with propionic acidemia, renal failure, and premature ovarian failure; late complications of propionic acidemia?

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13023-014-0130-8

Anabolic effect of human growth hormone: management of inherited disorders of catabolic pathways

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13023-014-0130-8

Parathyroid hormone resistance and B cell lymphopenia in propionic acidemia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13023-014-0130-8

Probing the Role of Positive Residues in the ADP/ATP Carrier from Yeast. The Effect of Six Arginine Mutations on Oxidative Phosphorylation and AAC Expression†

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13023-014-0130-8

Assessment of the perimortem protocol in neonates for the diagnosis of inborn errors of metabolism

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13023-014-0130-8

Metabolomics identifies perturbations in human disorders of propionate metabolism

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13023-014-0130-8

Measurement of succinyl-carnitine and methylmalonyl-carnitine on dried blood spot by liquid chromatography-tandem mass spectrometry

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13023-014-0130-8

Unexpectedly high prevalence of the mild form of propionic acidemia in Japan: presence of a common mutation and possible clinical implications

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13023-014-0130-8

Mutation analysis in 54 propionic acidemia patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13023-014-0130-8

Genetic and biochemical approach to early prenatal diagnosis in a family with mut methylmalonic aciduria.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13023-014-0130-8

Prenatal diagnosis of propionic acidemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13023-014-0130-8

Prenatal diagnosis of methylmalonic aciduria by measuring methylmalonic acid in dried amniotic fluid on filter paper using gas chromatography-mass spectrometry

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13023-014-0130-8

Newborn screening for methylmalonic acidurias--optimization by statistical parameter combination

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13023-014-0130-8

Determination of total homocysteine, methylmalonic acid, and 2-methylcitric acid in dried blood spots by tandem mass spectrometry

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13023-014-0130-8

Extracorporeal dialysis in neonatal hyperammonemia: modalities and prognostic indicators.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13023-014-0130-8

Long-term outcome and intervention of urea cycle disorders in Japan.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13023-014-0130-8

Metabolic changes associated with hyperammonemia in patients with propionic acidemia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13023-014-0130-8

N-carbamylglutamate protects patients with decompensated propionic aciduria from hyperammonaemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13023-014-0130-8

N-carbamylglutamate enhances ammonia detoxification in a patient with decompensated methylmalonic aciduria

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13023-014-0130-8

N-carbamylglutamate for neonatal hyperammonaemia in propionic acidaemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13023-014-0130-8

Biochemical efficacy of N-carbamylglutamate in neonatal severe hyperammonaemia due to propionic acidaemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13023-014-0130-8

Differential promotion of glutamate transporter expression and function by glucocorticoids in astrocytes from various brain regions.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13023-014-0130-8

Monitoring of home safety issues in children on enteral feeds with inherited metabolic disorders.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13023-014-0130-8

Usefulness of biochemical parameters in decision-making on the start of emergency treatment in patients with propionic acidemia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13023-014-0130-8

Impact of short- and medium-chain organic acids, acylcarnitines, and acyl-CoAs on mitochondrial energy metabolism

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13023-014-0130-8

Antioxidant and antiradical activities of L-carnitine

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13023-014-0130-8

The use of metronidazole in management of methylmalonic and propionic acidaemias

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13023-014-0130-8

Methylmalonic and propionic acidurias: management without or with a few supplements of specific amino acid mixture.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13023-014-0130-8

Growth hormone therapy in neonatal patients with methylmalonic acidemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13023-014-0130-8

The relationship of plasma glutamine to ammonium and of glycine to acid-base balance in propionic acidaemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13023-014-0130-8

Management of West syndrome in a patient with methylmalonic aciduria

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13023-014-0130-8

Improved growth and nutrition status in children with methylmalonic or propionic acidemia fed an elemental medical food

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13023-014-0130-8

Resting energy expenditure in disorders of propionate metabolism.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13023-014-0130-8

Energy expenditure in patients with propionic and methylmalonic acidaemias

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13023-014-0130-8

Breastfeeding experience in inborn errors of metabolism other than phenylketonuria

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13023-014-0130-8

Feeding difficulties in children with inherited metabolic disorders: a pilot study.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13023-014-0130-8

Propionic acidemia manifesting with low isoleucine generalized exfoliative dermatosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13023-014-0130-8

Acrodermatitis enteropathica-like eruption in metabolic disorders: acrodermatitis dysmetabolica is proposed as a better term.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13023-014-0130-8

Essential polyunsaturated fatty acids in plasma and erythrocytes of children with inborn errors of amino acid metabolism

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13023-014-0130-8

The importance of gut motility in the metabolic control of propionic acidemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13023-014-0130-8

Stabilization of blood methylmalonic acid level in methylmalonic acidemia after liver transplantation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13023-014-0130-8

Living-donor liver transplantation for propionic acidemia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13023-014-0130-8

Anaesthesia for liver transplantation in two infants with an organic acidaemia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13023-014-0130-8

Metabolic stroke in methylmalonic acidemia five years after liver transplantation

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13023-014-0130-8

Progressive neurologic disability in methylmalonic acidemia despite transplantation of the liver

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13023-014-0130-8

Management of methylmalonic acidaemia by combined liver-kidney transplantation

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13023-014-0130-8

Efficacy of living donor liver transplantation for patients with methylmalonic acidemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13023-014-0130-8

Improved neurologic prognosis for a patient with propionic acidemia who received early living donor liver transplantation

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13023-014-0130-8

Living-donor liver transplantation for propionic acidaemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13023-014-0130-8

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13023-014-0130-8

Kidney transplantation in a girl with methylmalonic acidemia and end stage renal failure

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13023-014-0130-8

Renal transplantation in a 14-year-old girl with vitamin B12-responsive cblA-type methylmalonic acidaemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13023-014-0130-8

Renal transplantation in 4 patients with methylmalonic aciduria: a cell therapy for metabolic disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13023-014-0130-8

Liver hepatoblastoma and multiple OXPHOS deficiency in the follow-up of a patient with methylmalonic aciduria

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13023-014-0130-8

One liver for four children: first clinical series of liver cell transplantation for severe neonatal urea cycle defects

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13023-014-0130-8

Feasibility of nonsense mutation readthrough as a novel therapeutical approach in propionic acidemia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13023-014-0130-8

Functional characterization of novel genotypes and cellular oxidative stress studies in propionic acidemia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13023-014-0130-8

Experimental evidence that methylmalonic acid provokes oxidative damage and compromises antioxidant defenses in nerve terminal and striatum of young rats

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13023-014-0130-8

Coenzyme Q(10) is decreased in fibroblasts of patients with methylmalonic aciduria but not in mevalonic aciduria.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13023-014-0130-8

Ascorbic acid prevents cognitive deficits caused by chronic administration of propionic acid to rats in the water maze

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13023-014-0130-8

Long-term needs of adult patients with organic acidaemias: outcome and prognostic factors.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13023-014-0130-8

Brain damage by mild metabolic derangements in methylmalonic acidemia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13023-014-0130-8

Magnetic resonance imaging and spectroscopy in a patient with treated methylmalonic acidemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13023-014-0130-8

Imaging of the brain, including diffusion-weighted imaging in methylmalonic acidemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13023-014-0130-8

Clinical and brain 18fluoro-2-deoxyglucose positron emission tomographic findings in ethylmalonic aciduria, a progressive neurometabolic disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13023-014-0130-8

Evaluation of immunization rates and safety among children with inborn errors of metabolism.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13023-014-0130-8

Successful pregnancy in a woman with mut- methylmalonic acidaemia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13023-014-0130-8

Aliskiren, ALTITUDE, and the implications for ATMOSPHERE.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13023-014-0130-8

Cytotoxic not vasogenic edema is the cause for stroke-like episodes in propionic acidemia.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4180313

Fractional anisotropy for assessment of white matter tracts injury in methylmalonic acidemia.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4180313

Delay of renal progression in methylmalonic acidemia using angiotensin II inhibition: a case report

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4180313

Reversible end-stage renal disease in an adolescent patient with methylmalonic aciduria

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4180313

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4180313

Rapid diagnosis of methylmalonic and propionic acidemias: quantitative tandem mass spectrometric analysis of propionylcarnitine in filter-paper blood specimens obtained from newborns

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4180313

Contribution of odd-chain fatty acid oxidation to propionate production in disorders of propionate metabolism.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4180313

Optic neuropathy in methylmalonic acidemia: the role of neuroprotection

28 November 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13023-014-0130-8

Acute extrapyramidal syndrome in methylmalonic acidemia: “Metabolic stroke” involving the globus pallidus

21 January 2018

1 reference

12 December 2020

Propionic acidemia revisited: a workshop report

1 reference

12 December 2020

Accuracy of home enteral feed preparation for children with inherited metabolic disorders

1 reference

12 December 2020

Liver transplantation for methylmalonic acidaemia

1 reference

12 December 2020

A series of pregnancies in women with inherited metabolic disease

1 reference

12 December 2020

Long-term follow-up of 77 patients with isolated methylmalonic acidaemia

1 reference

12 December 2020

Potential relationship between genotype and clinical outcome in propionic acidaemia patients

1 reference

12 December 2020

Methylmalonic aciduria in pregnancy: a case report

1 reference

12 December 2020

Propionic acidaemia: clinical, biochemical and therapeutic aspects. Experience in 30 patients

1 reference

12 December 2020

Late optic neuropathy in propionic acidemia following surgical intervention

1 reference

12 December 2020

Secondary hemophagocytosis in 3 patients with organic acidemia involving propionate metabolism

1 reference

12 December 2020

Prognosis for gross motor function in cerebral palsy: creation of motor development curves

1 reference

12 December 2020

Left ventricular assist device as bridge to liver transplantation in a patient with propionic acidemia and cardiogenic shock

1 reference

12 December 2020

Idiopathic hyperglycinemia and hyperglycinuria: a new disorder of amino acid metabolism. I

1 reference

12 December 2020

Successful pregnancy in severe methylmalonic acidaemia

1 reference

12 December 2020

Mutation and biochemical analysis of 19 probands with mut0 and 13 with mut- methylmalonic aciduria: identification of seven novel mutations

1 reference

12 December 2020

Recurrent acute pancreatitis associated with propionic acidemia

1 reference

12 December 2020

Type 4 renal tubular acidosis (subtype 2) in a patient with methylmalonic acidaemia

1 reference

12 December 2020

Cardiomyopathy in propionic acidaemia

1 reference

12 December 2020

Evaluation and long-term follow-up of infants with inborn errors of metabolism identified in an expanded screening programme

1 reference

12 December 2020

Liver transplantation in two cases of propionic acidaemia

1 reference

12 December 2020

Odd-numbered long-chain fatty acids in propionic acidaemia

1 reference

12 December 2020

Inborn errors of metabolism with a protein-restricted diet: effect on polyunsaturated fatty acids

1 reference

12 December 2020

Acute pancreatitis in propionic acidaemia

1 reference

12 December 2020

Propionic acidemia consensus conference summary

1 reference

12 December 2020

Neurologic outcome of propionic acidemia

1 reference

12 December 2020

Progressive renal insufficiency in methylmalonic acidemia

1 reference

12 December 2020

Methylmalonic acidemia with the unusual complication of severe hyperglycemia

1 reference

12 December 2020

Methylmalonic acidaemia due to mutase apoenzyme defect: Responsive to vitamin B 12 in intact fibroblasts but not in vivo

1 reference

12 December 2020

Pregnancy issues in inherited metabolic disorders

1 reference

12 December 2020

Breast feeding in IMD

1 reference

12 December 2020

Acrodermatitis enteropathica-like cutaneous lesions in organic aciduria

1 reference

12 December 2020

[A rare cause of cardiomyopathy in childhood: propionic acidosis. Three case reports]

1 reference

12 December 2020

Propionacidaemia and immunodeficiency

1 reference

12 December 2020

Heart failure in a patient with methylmalonic acidemia

1 reference

12 December 2020

Infectious complications of propionic acidemia in Saudia Arabia

1 reference

12 December 2020

Simultaneous quantification of acylcarnitine isomers containing dicarboxylic acylcarnitines in human serum and urine by high-performance liquid chromatography/electrospray ionization tandem mass spectrometry

1 reference

12 December 2020

Patients with organic acidaemias have an altered thiol status

1 reference

12 December 2020

Hyperamylasemia/hyperlipasemia in a child with propionic acidemia

1 reference

12 December 2020

Renal transplantation in a patient with methylmalonic acidaemia

1 reference

12 December 2020

Fatal heart failure associated with CoQ10 and multiple OXPHOS deficiency in a child with propionic acidemia

1 reference

12 December 2020

Pancytopenia in propionic acidemia: hematologic evaluation and studies of hematopoiesis in vitro

1 reference

12 December 2020

Prolonged QTc intervals and decreased left ventricular contractility in patients with propionic acidemia

1 reference

12 December 2020

Subacute bilateral visual loss in methylmalonic acidemia

1 reference

12 December 2020

From hepatocytes to stem and progenitor cells for liver regenerative medicine: advances and clinical perspectives

1 reference

12 December 2020

Plasma total odd-chain fatty acids in the monitoring of disorders of propionate, methylmalonate and biotin metabolism

1 reference

12 December 2020

Multiple OXPHOS deficiency in the liver, kidney, heart, and skeletal muscle of patients with methylmalonic aciduria and propionic aciduria

1 reference

12 December 2020

Reduction of the false-positive rate in newborn screening by implementation of MS/MS-based second-tier tests: the Mayo Clinic experience (2004-2007)

1 reference

12 December 2020

Tubulointerstitial nephritis in methylmalonic acidemia

1 reference

12 December 2020

Cardiac disease in methylmalonic acidemia

1 reference

12 December 2020

Propionic acidemia: neonatal versus selective metabolic screening

1 reference

12 December 2020

Neurophysiologic correlates of organic acidemias: a survey of 107 patients

1 reference

12 December 2020

Colonic fermentation to short-chain fatty acids is decreased in antibiotic-associated diarrhea

1 reference

12 December 2020

Spontaneous rapid resolution of acute basal ganglia changes in an untreated infant with propionic acidemia: a clue to pathogenesis?

1 reference

12 December 2020

5-Oxoprolinuria in patients with and without defects in the gamma-glutamyl cycle

1 reference

12 December 2020

Rapid 2nd-tier test for measurement of 3-OH-propionic and methylmalonic acids on dried blood spots: reducing the false-positive rate for propionylcarnitine during expanded newborn screening by liquid chromatography-tandem mass spectrometry

1 reference

12 December 2020

Genetic variations in man

1 reference

12 December 2020

Peroxisomal metabolism of propionic acid and isobutyric acid in plants

1 reference

12 December 2020

Magnetic resonance spectroscopy (MRS) in five patients with treated propionic acidemia

1 reference

12 December 2020

Chronic renal failure in methylmalonic acidaemia

1 reference

12 December 2020

Glutathione deficiency as a complication of methylmalonic acidemia: Response to high doses of ascorbate

1 reference

12 December 2020

Propionic acidemia: a rare cause of cardiomyopathy

1 reference

12 December 2020

The glutamine paradox in a neonate with propionic acidaemia and severe hyperammonaemia

1 reference

12 December 2020

Renal transplantation in a boy with methylmalonic acidaemia

1 reference

12 December 2020

Abnormality of odd-numbered long-chain fatty acids in erythrocyte membrane lipids from patients with disorders of propionate metabolism

1 reference

12 December 2020

Adult-onset chorea and dementia with propionic acidemia

1 reference

12 December 2020

Primary treatment of propionic acidemia complicated by acute thiamine deficiency

1 reference

12 December 2020

Metabolic emergencies: late acute neurologic and psychiatric presentation

1 reference

12 December 2020

Propionic acidemia associated with hypertrophic pyloric stenosis and bouts of severe hyperglycemia (author's transl)

1 reference

12 December 2020

Cardiac arrest secondary to long QT(C )in a child with propionic acidemia

1 reference

12 December 2020

10.1186/S13023-014-0130-8

Identifiers

DOI

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25205257%20AND%20SRC:MED&resulttype=core&format=json

Dimensions Publication ID

16 February 2020

1047327138

0 references

Fatcat ID

release_5xpoql6vp5hc3h2av66tkkapxm

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/5xpoql6vp5hc3h2av66tkkapxm

24 November 2022

mapped directly with Wikidata item

1 reference

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25205257%20AND%20SRC:MED&resulttype=core&format=json

16 February 2020

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25205257%20AND%20SRC:MED&resulttype=core&format=json