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Literature DB >> 28302195

[Clinical and molecular genetic characteristics of nonketotic hyperglycinemia].

Hai-Feng Li¹.

Abstract

Entities: Disease

Mesh：

Year: 2017 PMID： 28302195 PMCID： PMC7390138

Source DB: PubMed Journal: Zhongguo Dang Dai Er Ke Za Zhi ISSN： 1008-8830

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27 in total

1. Benzoate treatment and the glycine index in nonketotic hyperglycinaemia.

Authors: J L K Van Hove; K Vande Kerckhove; J B Hennermann; V Mahieu; P Declercq; S Mertens; M De Becker; P S Kishnani; J Jaeken
Journal: J Inherit Metab Dis Date: 2005 Impact factor: 4.982

2. Variant non ketotic hyperglycinemia is caused by mutations in LIAS, BOLA3 and the novel gene GLRX5.

Authors: Peter R Baker; Marisa W Friederich; Michael A Swanson; Tamim Shaikh; Kaustuv Bhattacharya; Gunter H Scharer; Joseph Aicher; Geralyn Creadon-Swindell; Elizabeth Geiger; Kenneth N MacLean; Wang-Tso Lee; Charu Deshpande; Mary-Louise Freckmann; Ling-Yu Shih; Melissa Wasserstein; Malene B Rasmussen; Allan M Lund; Peter Procopis; Jessie M Cameron; Brian H Robinson; Garry K Brown; Ruth M Brown; Alison G Compton; Carol L Dieckmann; Renata Collard; Curtis R Coughlin; Elaine Spector; Michael F Wempe; Johan L K Van Hove
Journal: Brain Date: 2013-12-11 Impact factor: 13.501

[Clinical and molecular genetic characteristics of nonketotic hyperglycinemia].

1. Benzoate treatment and the glycine index in nonketotic hyperglycinaemia.

2. Variant non ketotic hyperglycinemia is caused by mutations in LIAS, BOLA3 and the novel gene GLRX5.

3. A known and a novel mutation in the glycine decarboxylase gene in a newborn with classic nonketotic hyperglycinemia.

4. Natural history of nonketotic hyperglycinemia in 65 patients.

5. Nonketotic Hyperglycinemia of Infants in Taiwan.

6. Genomic deletion within GLDC is a major cause of non-ketotic hyperglycinaemia.

7. Late-onset nonketotic hyperglycinemia with leukodystrophy and an unusual clinical course.

8. The effectiveness of benzoate in the management of seizures in nonketotic hyperglycinemia.

9. Nonketotic hyperglycinemia: treatment with NMDA antagonist and consideration of neuropathogenesis.

10. Nonketotic hyperglycinemia: atypical clinical and biochemical manifestations.