Recapitulation of metabolic defects in a model of propionic acidemia using patient-derived primary hepatocytes-Reference-Cited by-同舟云学术

Recapitulation of metabolic defects in a model of propionic acidemia using patient-derived primary hepatocytes

Published:2016-03 Issue:3 Volume:117 Page:355-362
ISSN:1096-7192
Container-title:Molecular Genetics and Metabolism
language:en
Short-container-title:Molecular Genetics and Metabolism

Author:

Chapman Kimberly A.,Collado Maria S.,Figler Robert A.,Hoang Stephen A.,Armstrong Allison J.,Cui Wanxing,Purdy Michael,Simmers Michael B.,Yazigi Nada A.,Summar Marshall L.,Wamhoff Brian R.,Dash Ajit^ORCID

Funder

NIH

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology,Biochemistry,Endocrinology, Diabetes and Metabolism

Reference46 articles.

1. 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;Ravn;Am. J. Hum. Genet.,2000

2. Propionic acidemia;Carrillo-Carrasco,1993

3. Unusual presentations of propionic acidemia;Ozand;Brain Dev.,1994

4. Disorders of propionate and methylmalonate metabolism;Fenton,2001

5. Inhibition by propionyl-coenzyme A of N-acetylglutamate synthetase in rat liver mitochondria. A possible explanation for hyperammonemia in propionic and methylmalonic acidemia;Coude;J. Clin. Invest.,1979

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