Metabolite studies in HIBCH and ECHS1 defects: Implications for screening-Reference-Cited by-同舟云学术

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Metabolite studies in HIBCH and ECHS1 defects: Implications for screening

Published:2015-08 Issue:4 Volume:115 Page:168-173
ISSN:1096-7192
Container-title:Molecular Genetics and Metabolism
language:en
Short-container-title:Molecular Genetics and Metabolism

Author:

Peters Heidi,Ferdinandusse Sacha,Ruiter Jos P.,Wanders Ronald J.A.,Boneh Avihu,Pitt James

Funder

Victorian Government's Operational Infrastructure Support Program

Publisher

Elsevier BV

Subject

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

Reference22 articles.

1. Enzymology of the branched-chain amino acid oxidation disorders: the valine pathway;Wanders;J. Inherit. Metab. Dis.,2012

2. beta-hydroxyisobutyryl coenzyme A deacylase deficiency: a defect in valine metabolism associated with physical malformations;Brown;Pediatrics,1982

3. Two new sulphur-containing amino acids in man;Truscott;Biomed. Mass Spectrom.,1981

4. ECHS1 mutations in Leigh disease: a new inborn error of metabolism affecting valine metabolism;Peters;Brain,2014

5. Comprehensive screening of urine samples for inborn errors of metabolism by electrospray tandem mass spectrometry;Pitt;Clin. Chem.,2002

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1. Differential utilization of vitamin B12-dependent and independent pathways for propionate metabolism across human cells;Journal of Biological Chemistry;2024-09

2. Metabolic Pathways of Acylcarnitine Synthesis;Physiological Research;2024-08-31

3. Valine restriction extends survival in aDrosophilamodel of short-chain enoyl-CoA hydratase 1 (ECHS1) deficiency;2024-08-17

4. Further delineation of short-chain enoyl-CoA hydratase deficiency in the Pacific population;Molecular Genetics and Metabolism;2024-07

5. Leigh like phenotype secondary to 3-hydroxyisobutyryl-CoA hydrolase deficiency: A first Indian case;Karnataka Paediatric Journal;2024-06-11

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