In vitro and in vivo consequences of variant medium-chain acyl-CoA dehydrogenase genotypes-Reference-Cited by-同舟云学术

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In vitro and in vivo consequences of variant medium-chain acyl-CoA dehydrogenase genotypes

Published:2013 Issue:1 Volume:8 Page:43
ISSN:1750-1172
Container-title:Orphanet Journal of Rare Diseases
language:en
Short-container-title:Orphanet Journal of Rare Diseases

Author:

Touw Catharina ML,Smit G Peter A,Niezen-Koning Klary E,Boer Conny Bosgraaf-de,Gerding Albert,Reijngoud Dirk-Jan,Derks Terry GJ

Publisher

Springer Science and Business Media LLC

Subject

Pharmacology (medical),Genetics(clinical),General Medicine

Cited by 16 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Functional and structural impact of 10 ACADM missense mutations on human medium chain acyl-Coa dehydrogenase;Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease;2023-10

2. Plasma carnitine concentrations in Medium‐chain acyl‐CoA dehydrogenase deficiency: lessons from an observational cohort study;Journal of Inherited Metabolic Disease;2022-07-17

3. Lymphocyte Medium-Chain Acyl-CoA Dehydrogenase Activity and Its Potential as a Diagnostic Confirmation Tool in Newborn Screening Cases;Journal of Clinical Medicine;2022-05-23

4. Genotype and residual enzyme activity in medium‐chain acyl‐CoA dehydrogenase ( MCAD ) deficiency: Are predictions possible?;Journal of Inherited Metabolic Disease;2021-02-25

5. Transcriptome analysis suggests a compensatory role of the cofactors coenzyme A and NAD+ in medium-chain acyl-CoA dehydrogenase knockout mice;Scientific Reports;2019-10-10

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