(Q34536489)

English

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

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16763906%20AND%20SRC:MED&resulttype=core&format=json

29 January 2020

1 reference

Europe PubMed Central

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

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16763906%20AND%20SRC:MED&resulttype=core&format=json

29 January 2020

1 reference

ChEBI release 2020-05-28

mass spectrometry

0 references

Carlo Dionisi-Vici

1

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16763906%20AND%20SRC:MED&resulttype=core&format=json

29 January 2020

author name string

Federica Deodato

2

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16763906%20AND%20SRC:MED&resulttype=core&format=json

29 January 2020

Wulf Röschinger

3

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16763906%20AND%20SRC:MED&resulttype=core&format=json

29 January 2020

William Rhead

4

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16763906%20AND%20SRC:MED&resulttype=core&format=json

29 January 2020

Bridget Wilcken

5

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16763906%20AND%20SRC:MED&resulttype=core&format=json

29 January 2020

publication date

1 April 2006

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16763906%20AND%20SRC:MED&resulttype=core&format=json

29 January 2020

Journal of Inherited Metabolic Disease

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16763906%20AND%20SRC:MED&resulttype=core&format=json

29 January 2020

29

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16763906%20AND%20SRC:MED&resulttype=core&format=json

29 January 2020

2-3

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16763906%20AND%20SRC:MED&resulttype=core&format=json

29 January 2020

383-389

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16763906%20AND%20SRC:MED&resulttype=core&format=json

29 January 2020

Long-term survival after liver transplantation in children with metabolic disorders

1 reference

https://pubmed.ncbi.nlm.nih.gov/16763906

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Propionic acidemia revisited: a workshop report

1 reference

https://pubmed.ncbi.nlm.nih.gov/16763906

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Liver transplantation for methylmalonic acidaemia

1 reference

https://pubmed.ncbi.nlm.nih.gov/16763906

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/16763906

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/16763906

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/16763906

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/16763906

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Long term outcome of organic acidurias: survey of 105 French cases (1967-1983)

1 reference

https://pubmed.ncbi.nlm.nih.gov/16763906

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Screening newborns for inborn errors of metabolism by tandem mass spectrometry

1 reference

https://pubmed.ncbi.nlm.nih.gov/16763906

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Cardiomyopathy in propionic acidaemia

1 reference

https://pubmed.ncbi.nlm.nih.gov/16763906

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Neurological outcome of methylmalonic acidaemia

1 reference

https://pubmed.ncbi.nlm.nih.gov/16763906

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Acute pancreatitis in propionic acidaemia

1 reference

https://pubmed.ncbi.nlm.nih.gov/16763906

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Expanded newborn screening for inborn errors of metabolism by electrospray ionization-tandem mass spectrometry: results, outcome, and implications

1 reference

https://pubmed.ncbi.nlm.nih.gov/16763906

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Neurologic outcome of propionic acidemia

1 reference

https://pubmed.ncbi.nlm.nih.gov/16763906

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Management of methylmalonic acidaemia by combined liver-kidney transplantation

1 reference

https://pubmed.ncbi.nlm.nih.gov/16763906

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/16763906

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Progressive neurologic disability in methylmalonic acidemia despite transplantation of the liver

1 reference

https://pubmed.ncbi.nlm.nih.gov/16763906

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

N-carbamylglutamate protects patients with decompensated propionic aciduria from hyperammonaemia

1 reference

https://pubmed.ncbi.nlm.nih.gov/16763906

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Liver transplantation in propionic acidaemia

1 reference

https://pubmed.ncbi.nlm.nih.gov/16763906

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Inborn errors of metabolism in the Italian pediatric population: A national retrospective survey

1 reference

https://pubmed.ncbi.nlm.nih.gov/16763906

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Living donor liver transplantation for noncirrhotic inheritable metabolic liver diseases: impact of the use of heterozygous donors

1 reference

https://pubmed.ncbi.nlm.nih.gov/16763906

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Methylmalonic and propionic acidaemias: management and outcome

1 reference

https://pubmed.ncbi.nlm.nih.gov/16763906

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Incidence of inborn errors of metabolism in British Columbia, 1969-1996.

1 reference

https://pubmed.ncbi.nlm.nih.gov/16763906

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Metabolic stroke in methylmalonic acidemia five years after liver transplantation

1 reference

https://pubmed.ncbi.nlm.nih.gov/16763906

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Renal transplantation in a patient with methylmalonic acidaemia

1 reference

https://pubmed.ncbi.nlm.nih.gov/16763906

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/16763906

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Successful pregnancy in a woman with mut- methylmalonic acidaemia.

1 reference

https://pubmed.ncbi.nlm.nih.gov/16763906

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Incidence and short-term outcome of children with symptomatic presentation of organic acid and fatty acid oxidation disorders in Germany

1 reference

https://pubmed.ncbi.nlm.nih.gov/16763906

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The management of organic acidaemias: the role of transplantation

1 reference

https://pubmed.ncbi.nlm.nih.gov/16763906

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Frequencies of inherited organic acidurias and disorders of mitochondrial fatty acid transport and oxidation in Germany

1 reference

https://pubmed.ncbi.nlm.nih.gov/16763906

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/16763906

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/16763906

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Extracorporeal dialysis in neonatal hyperammonemia: modalities and prognostic indicators.

1 reference

https://pubmed.ncbi.nlm.nih.gov/16763906

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A common mutation is associated with a mild, potentially asymptomatic phenotype in patients with isovaleric acidemia diagnosed by newborn screening

1 reference

https://pubmed.ncbi.nlm.nih.gov/16763906

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Inborn errors of metabolism: an update on epidemiology and on neonatal-onset hyperammonemia.

1 reference

https://pubmed.ncbi.nlm.nih.gov/16763906

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Effect of expanded newborn screening for biochemical genetic disorders on child outcomes and parental stress.

1 reference

https://pubmed.ncbi.nlm.nih.gov/16763906

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1007/S10545-006-0278-Z

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16763906%20AND%20SRC:MED&resulttype=core&format=json

29 January 2020

Dimensions Publication ID

0 references

release_paufd6qr4rb6vauunmcxww3ar4

1 reference

https://api.fatcat.wiki/v0/release/paufd6qr4rb6vauunmcxww3ar4

24 November 2022

based on heuristic

mapped directly with Wikidata item

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16763906%20AND%20SRC:MED&resulttype=core&format=json

29 January 2020

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