Two Novel GLDC Mutations in a Neonate with Nonketotic Hyperglycinemia-Reference-Cited by-同舟云学术

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Two Novel GLDC Mutations in a Neonate with Nonketotic Hyperglycinemia

Published:2016-06-15 Issue:03 Volume:05 Page:174-180
ISSN:2146-4596
Container-title:Journal of Pediatric Genetics
language:en
Short-container-title:J Pediatr Genet

Author:

Balasubramaniam Shanti¹,Dryland Philippa²,Love Jennifer²,Kava Maina³,Love Donald²,Prosser Debra²,Nickerson Sarah²

Affiliation:

1. Metabolic Unit, Department of Rheumatology/Metabolic Medicine, Princess Margaret Hospital, Perth, WA, Australia

2. Diagnostic Genetics, LabPLUS, Auckland City Hospital, Auckland, New Zealand

3. School of Paediatrics and Child Health, University of Western Australia, WA, Australia

Publisher

Georg Thieme Verlag KG

Subject

Genetics(clinical),Pediatrics, Perinatology, and Child Health

Link

http://www.thieme-connect.de/products/ejournals/pdf/10.1055/s-0036-1584358.pdf

Cited by 5 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. 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

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

3. Outcome of Nonketotic Hyperglycinemia in Lebanon: 14-Year Retrospective Review;Neuropediatrics;2019-06-06

4. Ketogenic diet, a potentially valuable therapeutic option for the management of refractory epilepsy in classical neonatal nonketotic hyperglycinemia: a case report;European Journal of Clinical Nutrition;2018-08-14

5. Epilepsy genetics: Current knowledge, applications, and future directions;Clinical Genetics;2018-08-02

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