Persistent NKH with transient or absent symptoms and a homozygousGLDC mutation
Author:
Publisher
Wiley
Subject
Neurology (clinical),Neurology
Reference16 articles.
1. Non-ketotic hyperglycinemia. In: eds. The metabolic and molecular bases of inherited disease. 8th ed. New York: McGraw-Hill, 2001: 2065-2078.
2. Pitfalls in the diagnosis of glycine encephalopathy (non-ketotic hyperglycinemia)
3. Chromosomal localization, structure, single-nucleotide polymorphisms, and expression of the human H-protein gene of the glycine cleavage system (GCSH), a candidate gene for nonketotic hyperglycinemia
4. Biochemical and Molecular Investigations of Patients with Nonketotic Hyperglycinemia
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1. Natural history and outcome of nonketotic hyperglycinemia in China;Frontiers in Neurology;2024-08-14
2. Homozygosity for disease‐causing variants in AMT and GLDC in a patient with severe nonketotic hyperglycinemia;American Journal of Medical Genetics Part A;2024-04-04
3. Novel homozygous GLDC variant causing late-onset glycine encephalopathy: A case report and updated review of the literature;Molecular Genetics and Metabolism Reports;2023-03
4. Ketogenic diet as a glycine lowering therapy in nonketotic hyperglycinemia and impact on brain glycine levels;Orphanet Journal of Rare Diseases;2022-12-05
5. Integrative Approach to Predict Severity in Nonketotic Hyperglycinemia;Annals of Neurology;2022-06-16
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