Consideration of a metabolic disorder in the differential of mild developmental delay: A case of nonketotic hyperglycinemia revisited 36 years later-Reference-Cited by-同舟云学术

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Consideration of a metabolic disorder in the differential of mild developmental delay: A case of nonketotic hyperglycinemia revisited 36 years later

Published:2021-03-31 Issue:1 Volume:59 Page:16-19
ISSN:2192-8312
Container-title:JIMD Reports
language:en
Short-container-title:JIMD Reports

Author:

Tramontana Timothy F.¹^ORCID,Wilson Theodore E.¹,Hainline Bryan E.¹

Affiliation:

1. Department of Medical and Molecular Genetics Indiana University School of Medicine Indianapolis Indiana USA

Publisher

Wiley

Subject

Biochemistry, Genetics and Molecular Biology (miscellaneous),Endocrinology, Diabetes and Metabolism,Internal Medicine

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/jmd2.12208

Reference12 articles.

1. Nonketotic hyperglycinemia: Atypical clinical and biochemical manifestations

2. Hyperglycinuria and hyperglycinemia in two siblings with mild developmental delays;Frazier DM;Am J Dis Child,1978

3. Biochemical and molecular predictors for prognosis in nonketotic hyperglycinemia

4. Comprehensive mutation analysis ofGLDC,AMT, andGCSHin nonketotic hyperglycinemia

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1. 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

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