Cardiac phenotype in adolescents and young adults with long-chain 3-hydroxyacyl CoA dehydrogenase (LCHAD) deficiency-Reference-Cited by-同舟云学术

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Cardiac phenotype in adolescents and young adults with long-chain 3-hydroxyacyl CoA dehydrogenase (LCHAD) deficiency

Published:2024-06 Issue:6 Volume:26 Page:101123
ISSN:1098-3600
Container-title:Genetics in Medicine
language:en
Short-container-title:Genetics in Medicine

Author:

Elizondo Gabriela^ORCID,Saini Ajesh,Gonzalez de Alba Cesar,Gregor Ashley,Harding Cary O.,Gillingham Melanie B.,Vinocur Jeffrey M.

Publisher

Elsevier BV

Reference43 articles.

1. Common missense mutation G1528C in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. Characterization and expression of the mutant protein, mutation analysis on genomic DNA and chromosomal localization of the mitochondrial trifunctional protein alpha subunit gene.

2. Inborn errors of metabolism with myopathy: defects of fatty acid oxidation and the carnitine shuttle system;El-Gharbawy;Pediatr Clin North Am,2018

3. Mitochondrial fatty acid oxidation and the electron transport chain comprise a multifunctional mitochondrial protein complex;Wang;J Biol Chem,2019

4. Newborn screening: toward a uniform screening panel and system—executive summary;Pediatrics,2006

5. Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency with the G1528C mutation: clinical presentation of thirteen patients;Tyni;J Pediatr,1997

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1. Metabolomic and Physiological Effects of a Cardiorenal Protective Diet Intervention in African American Adults with Chronic Kidney Disease;Metabolites;2024-05-25

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