Biochemical and Molecular Investigations of Patients with Nonketotic Hyperglycinemia-Reference-Cited by-同舟云学术

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Biochemical and Molecular Investigations of Patients with Nonketotic Hyperglycinemia

Published:2000-06 Issue:2 Volume:70 Page:116-121
ISSN:1096-7192
Container-title:Molecular Genetics and Metabolism
language:en
Short-container-title:Molecular Genetics and Metabolism

Author:

Toone Jennifer R.,Applegarth Derek A.,Coulter-Mackie Marion B.,James Erick R.

Publisher

Elsevier BV

Subject

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

Reference21 articles.

1. The glycine decarboxylase complex from plant mitochondria;Oliver;Annu Rev Plant Physiol Plant Mol Biol,1994

2. Nonketotic hyperglycinemia: Molecular lesion, diagnosis and pathophysiology;Tada;J Inher Met Dis,1993

3. Identification of 2 missense mutations in a dihydrolipoamide dehydrogenase-deficient patient;Liu;PNAS,1993

4. Defective glycine cleavage system in nonketotic hyperglycinemia: Occurrence of a less active glycine decarboxylase and an abnormal aminomethyl carrier protein;Hiraga;J Clin Invest,1981

5. Identification of the mutations in the T protein gene causing typical and atypical nonketotic hyperglycinemia;Nanao;Hum Gen,1994

Cited by 45 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. Natural history and outcome of nonketotic hyperglycinemia in China;Frontiers in Neurology;2024-08-14

2. Pathogenic variants in GCSH encoding the moonlighting H-protein cause combined nonketotic hyperglycinemia and lipoate deficiency;Human Molecular Genetics;2022-10-03

3. Novel GLDC variants causing nonketotic hyperglycinemia in Chinese patients;Journal of Laboratory Medicine;2022-09-12

4. Genotypic and phenotypic features in Turkish patients with classic nonketotic hyperglycinemia;Metabolic Brain Disease;2021-04-01

5. Nonketotic hyperglycinemia: Clinical range and outcome of a rare neurometabolic disease in a single-center;Brain and Development;2018-11

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