Clinical Features of Multiple Acyl-CoA Dehydrogenase Deficiency With ETFDH Variants in the First Korean Cases-Reference-Cited by-同舟云学术

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Clinical Features of Multiple Acyl-CoA Dehydrogenase Deficiency With ETFDH Variants in the First Korean Cases

Published:2018-11-28 Issue:6 Volume:38 Page:616-618
ISSN:2234-3806
Container-title:Annals of Laboratory Medicine
language:en
Short-container-title:Ann Lab Med

Author:

Kim Yoo Jinie¹,Ko Jung Min¹^ORCID,Song Junghan²,Lee Kyung-A³

Affiliation:

1. Department of Pediatrics, Seoul National University College of Medicine, Seoul National University Children's Hospital, Seoul, Korea

2. Department of Laboratory Medicine, Seoul National University College of Medicine, Seoul, Korea

3. Department of Laboratory Medicine, Yonsei University College of Medicine, Seoul, Korea

Funder

Ministry of Health & Welfare

Publisher

Annals of Laboratory Medicine

Subject

Biochemistry (medical),Clinical Biochemistry,General Medicine

Link

https://synapse.koreamed.org/pdf/10.3343/alm.2018.38.6.616

Reference10 articles.

1. Glutaric aciduria type II: Report on a previously undescribed metabolic disorder

2. Newborn screening for disorders of fatty-acid oxidation: experience and recommendations from an expert meeting

3. Clinical and genetical heterogeneity of late-onset multiple acyl-coenzyme A dehydrogenase deficiency

4. Multiple acyl-CoA dehydrogenation deficiency (glutaric aciduria type II), congenital polycystic kidneys, and symmetric warty dysplasia of the cerebral cortex in two brothers

5. Glutaric Aciduria Type II: Observations in Seven Patients With Neonatal- and Late-Onset Disease

Cited by 6 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. Multiple Acyl-CoA Dehydrogenase Deficiency: Phenotypic and Genetic Features of a Malaysian Cohort;Journal of Clinical Neurology;2024

2. Clinical and molecular investigation of 37 Japanese patients with multiple acyl-CoA dehydrogenase deficiency: p.Y507D in ETFDH, a common Japanese variant, causes a mortal phenotype;Molecular Genetics and Metabolism Reports;2022-12

3. Targeted Therapies for Metabolic Myopathies Related to Glycogen Storage and Lipid Metabolism: a Systematic Review and Steps Towards a ‘Treatabolome’;Journal of Neuromuscular Diseases;2021-05-13

4. Role of RNA in Molecular Diagnosis of MADD Patients;Biomedicines;2021-05-04

5. ETF dehydrogenase advances in molecular genetics and impact on treatment;Critical Reviews in Biochemistry and Molecular Biology;2021-04-07

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