Glycine encephalopathy (nonketotic hyperglycinaemia): Review and update
- 1 May 2004
- journal article
- review article
- Published by Wiley in Journal of Inherited Metabolic Disease
- Vol. 27 (3) , 417-422
- https://doi.org/10.1023/b:boli.0000031222.38328.59
Abstract
Summary: This article summarizes data and issues covered in the workshop on Glycine Encephalopathy using headings that cover important topics in our present knowledge of this disease. Presenters were: Dr Ada Hamosh (Baltimore); Dr Johan L. K. Van Hove (Leuven); Dr Christine Vianey‐Saban (Lyon); Dr Shigeo Kure (Sendai); Dr A. Ichinohe (Sendai); Jennifer Toone (Vancouver); Dr Stanley Korman (Jerusalem).Keywords
This publication has 8 references indexed in Scilit:
- Concerns regarding transience and heterozygosity in neonatal hyperglycenemiaAnnals of Neurology, 2003
- Transient nonketotic hyperglycinemia: two case reports and literature reviewPediatric Neurology, 2003
- Heterozygous GLDC and GCSH gene mutations in transient neonatal hyperglycinemiaAnnals of Neurology, 2002
- Biochemical and Molecular Investigations of Patients with Nonketotic HyperglycinemiaMolecular Genetics and Metabolism, 2000
- Non-concordance of CVS and liver glycine cleavage enzyme in three families with non-ketotic hyperglycinaemia (NKH) leading to false negative prenatal diagnosesPrenatal Diagnosis, 2000
- Prognostic clues and outcome of early treatment of nonketotic hyperglycinemiaPediatric Neurology, 1996
- Non‐ketotic hyperglycinaemia: Molecular lesion, diagnosis and pathophysiologyJournal of Inherited Metabolic Disease, 1993
- Defective glycine cleavage system in nonketotic hyperglycinemia. Occurrence of a less active glycine decarboxylase and an abnormal aminomethyl carrier protein.Journal of Clinical Investigation, 1981