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Nonketotic Hyperglycinemia

Published:2012-04-24 Issue:2 Volume:28 Page:251-254
ISSN:0883-0738
Container-title:Journal of Child Neurology
language:en
Short-container-title:J Child Neurol

Author:

Veríssimo Carla¹,Garcia Paula²,Simões Marta¹,Robalo Conceição²,Henriques Raquel³,Diogo Luísa²,Grazina Manuela¹⁴

Affiliation:

1. Centro de Neurociências e Biologia Celular, Universidade de Coimbra, Laboratório de Bioquímica Genética, Coimbra, Portugal

2. Unidade de Doenças Metabólicas, Hospital Pediátrico, Centro Hospitalar e Universitário de Coimbra, EPE, Coimbra, Portugal

3. UCIRN-Maternidade Daniel de Matos, Centro Hospitalar e Universitário de Coimbra, EPE, Coimbra, Portugal

4. Faculdade de Medicina, Universidade de Coimbra, Azinhaga de Santa Comba, Coimbra, Portugal

Publisher

SAGE Publications

Subject

Clinical Neurology,Pediatrics, Perinatology, and Child Health

Link

http://journals.sagepub.com/doi/pdf/10.1177/0883073812441063

Reference17 articles.

1. Glycine cleavage system: reaction mechanism, physiological significance, and hyperglycinemia

2. Nonketotic hyperglycinemia A genetic study of 13 Finnish families

3. Incidence of Inborn Errors of Metabolism in British Columbia, 1969–1996

4. Mild glycine encephalopathy (NKH) in a large kindred due to a silent exonic GLDC splice mutation

Cited by 17 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. Epilepsy of Infancy with Migrating Focal Seizures in a Patient with Nonketotic Hyperglycinemia;Annals of Child Neurology;2023-04-01

2. Clinical, Laboratory, and Short-Term Outcomes in Neonatal Nonketotic Hyperglycinemia;Iranian Journal of Pediatrics;2021-09-30

3. Genotypic and phenotypic features in Turkish patients with classic nonketotic hyperglycinemia;Metabolic Brain Disease;2021-04-01

4. Síndrome de opsoclonus mioclonus como manifestación de una hiperglicinemia no cetósica: reporte de caso y revisión de la literatura;Neurología Argentina;2021-04

5. Nonketotic Hyperglycinemia in Tunisia. Report upon a Series of 69 Patients;Neuropediatrics;2020-08-20

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