Genotypic and phenotypic features in Turkish patients with classic nonketotic hyperglycinemia-Reference-Cited by-同舟云学术

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Genotypic and phenotypic features in Turkish patients with classic nonketotic hyperglycinemia

Published:2021-04-01 Issue:6 Volume:36 Page:1213-1222
ISSN:0885-7490
Container-title:Metabolic Brain Disease
language:en
Short-container-title:Metab Brain Dis

Author:

Bayrak Harun,Yıldız Yılmaz,Olgaç Asburçe,Kasapkara Çiğdem Seher,Küçükcongar Aynur,Zenciroğlu Ayşegül,Yüksel Deniz,Ceylaner Serdar,Kılıç Mustafa

Publisher

Springer Science and Business Media LLC

Subject

Cellular and Molecular Neuroscience,Neurology (clinical),Biochemistry

Link

https://link.springer.com/content/pdf/10.1007/s11011-021-00718-3.pdf

Reference42 articles.

1. Aburahma S, Khassawneh M, Griebel M, Sharp G, Gibson J (2011) Pitfalls in measuring cerebrospinal fluid glycine levels in infants with encephalopathy. J Child Neurol 26:703–706. https://doi.org/10.1177/0883073810389041

2. Applegarth DA, Toone JR (2004) Glycine encephalopathy (nonketotic hyperglycinaemia): review and update. J Inherit Metab Dis 27:417–422. https://doi.org/10.1023/b:boli.0000031222.38328.59

3. Applegarth DA, Toone JR (2006) Glycine encephalopathy (nonketotic hyperglycinemia): comments and speculations. Am J Med Genet A 140:186–188. https://doi.org/10.1002/ajmg.a.31030

4. Applegarth DA, Toone JR, Lowry RB (2000) Incidence of inborn errors of metabolism in British Columbia, 1969–1996. Pediatrics 105:e10. https://doi.org/10.1542/peds.105.1.e10

5. Azize NA, Ngah WZ, Othman Z, Ngah WZ, Othman Z, Desa N, Chin BC et al (2014) Mutation analysis of glycine decarboxylase, aminomethyltransferase and glycine cleavage system protein-H genes in 13 unrelated families with glycine encephalopathy. J Hum Genet 59:593–597. https://doi.org/10.1038/jhg.2014.69

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

2. Hereditary Amino Acid Metabolism Disorders and Urea Cycle Disorders: to Practicing Physician;Current Pediatrics;2024-01-12

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. gldc Is Essential for Renal Progenitor Patterning during Kidney Development;Biomedicines;2022-12-12

5. Nonketotic Hyperglycinemia: Insight into Current Therapies;Journal of Clinical Medicine;2022-05-27

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