Identification of two mutations in a compound heterozygous child with dihydrolipoamide dehydrogenase deficiency-Reference-Cited by-同舟云学术

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Identification of two mutations in a compound heterozygous child with dihydrolipoamide dehydrogenase deficiency

Published:1996-12-01 Issue:12 Volume:5 Page:1925-1930
ISSN:1460-2083
Container-title:Human Molecular Genetics
language:
Short-container-title:

Author:

Hong Y.

Publisher

Oxford University Press (OUP)

Subject

Genetics(clinical),Genetics,Molecular Biology,General Medicine

Link

http://academic.oup.com/hmg/article-pdf/5/12/1925/1862026/5-12-1925.pdf

Cited by 61 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. The natural history of dihydrolipoamide dehydrogenase deficiency in Israel;Journal of Inherited Metabolic Disease;2024-07-23

2. Dehydrogenase (DLD) Deficiency in an Iranian Patient with Recurrent Intractable Vomiting: Successful Treatment with Thiamine Supplementation;IRAN J CHILD NEUROL;2024

3. Mitochondrial Alpha-Keto Acid Dehydrogenase Complexes: Recent Developments on Structure and Function in Health and Disease;Subcellular Biochemistry;2024

4. Roles of Dihydrolipoamide Dehydrogenase in Health and Disease;Antioxidants & Redox Signaling;2023-10-01

5. Structural and Biochemical Investigation of Selected Pathogenic Mutants of the Human Dihydrolipoamide Dehydrogenase;International Journal of Molecular Sciences;2023-06-28

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