(Q28295609)

Irini Manoli

1

0 references

Mones Abu-Asab

Mones Abu-Asab

14

0 references

Gerard Berry

Gerard T Berry

19

0 references

Salvatore DiMauro

21

Salvatore DiMauro

0 references

author name string

Justin R Sysol

2

0 references

Lingli Li

3

0 references

Pascal Houillier

4

0 references

Cindy Wang

6

0 references

Patricia M Zerfas

7

0 references

Kristina Cusmano-Ozog

8

0 references

Sarah Young

9

0 references

Niraj S Trivedi

10

0 references

Jun Cheng

11

0 references

Jennifer L Sloan

12

0 references

Randy J Chandler

13

0 references

Maria Tsokos

15

0 references

Abdel G Elkahloun

16

0 references

Seymour Rosen

17

0 references

Gregory M Enns

18

0 references

Victoria Hoffmann

20

0 references

Jurgen Schnermann

22

0 references

Charles P Venditti

Proceedings of the National Academy of Sciences of the United States of America

23

0 references

language of work or name

English

0 references

publication date

13 August 2013

0 references

published in

0 references

volume

110

0 references

issue

33

0 references

page(s)

13552-7

0 references

cites work

Regulation and inhibition of arachidonic acid omega-hydroxylases and 20-HETE formation

2 references

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3746875

20 March 2017

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3746875

A knock-out mouse model for methylmalonic aciduria resulting in neonatal lethality

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3746875

Variable dietary management of methylmalonic acidemia: metabolic and energetic correlations

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3746875

Lipocalin 2 is essential for chronic kidney disease progression in mice and humans

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3746875

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3746875

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3746875

Inherited disorders affecting mitochondrial function are associated with glutathione deficiency and hypocitrullinemia

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3746875

Mitochondrial dysfunction in mut methylmalonic acidemia

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3746875

Primary coenzyme Q deficiency in Pdss2 mutant mice causes isolated renal disease

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3746875

Adenovirus-mediated gene delivery rescues a neonatal lethal murine model of mut(0) methylmalonic acidemia.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3746875

Metabolic phenotype of methylmalonic acidemia in mice and humans: the role of skeletal muscle

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3746875

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3746875

Urinary excretion of fatty acid-binding protein reflects stress overload on the proximal tubules

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3746875

Mitochondrial abnormalities in muscle and other aging cells: classification, causes, and effects

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3746875

Isolation and primary structure of NGAL, a novel protein associated with human neutrophil gelatinase.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3746875

The Natural History of the Inherited Methylmalonic Acidemias

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3746875

Methylmalonic aciduria. An inborn error of metabolism leading to chronic metabolic acidosis

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3746875

Renal tubular dysfunction in methylmalonic acidaemia

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3746875

Progressive neurologic disability in methylmalonic acidemia despite transplantation of the liver

2 June 2018

1 reference

Crossref

https://api.crossref.org/works/10.1073%2FPNAS.1302764110

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

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1073%2FPNAS.1302764110

Dietary cosupplementation with vitamin E and coenzyme Q(10) inhibits atherosclerosis in apolipoprotein E gene knockout mice

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1073%2FPNAS.1302764110

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

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3746875

Dose ranging and efficacy study of high-dose coenzyme Q10 formulations in Huntington's disease mice

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3746875

Optic neuropathy in methylmalonic acidemia: the role of neuroprotection

27 November 2018

1 reference

12 December 2020

Identification of Neutrophil Gelatinase-Associated Lipocalin as a Novel Early Urinary Biomarker for Ischemic Renal Injury

1 reference

12 December 2020

Chronic renal failure in methylmalonic acidaemia

1 reference

12 December 2020

Impaired urinary ammonium excretion in patients with isolated proximal renal tubular acidosis

1 reference

12 December 2020

Kidney Injury Molecule-1 (KIM-1): a novel biomarker for human renal proximal tubule injury

1 reference

12 December 2020