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L. Gabis, P. Parton, P. Roche, N. Lenn, A. Tudorica, Wei Huang (2001)
In Vivo 1H Magnetic Resonance Spectroscopic Measurement of Brain Glycine Levels in Nonketotic HyperglycinemiaJournal of Neuroimaging, 11
Virginie Vervoort, K. Holden, Kennedy Ukadike, J. Collins, R. Saul, A. Srivastava (2004)
POMGnT1 gene alterations in a family with neurological abnormalitiesAnnals of Neurology, 56
S. Kure, K. Kojima, Takayuki Kudo, K. Kanno, Y. Aoki, Yoichi Suzuki, T. Shinka, Y. Sakata, K. Narisawa, Y. Matsubara (2001)
Chromosomal localization, structure, single-nucleotide polymorphisms, and expression of the human H-protein gene of the glycine cleavage system (GCSH), a candidate gene for nonketotic hyperglycinemiaJournal of Human Genetics, 46
S. Kure, K. Narisawa, K. Tada (1991)
Structural and expression analyses of normal and mutant mRNA encoding glycine decarboxylase: three-base deletion in mRNA causes nonketotic hyperglycinemia.Biochemical and biophysical research communications, 174 3
A. Hamosh, J. Hove (2003)
Concerns regarding transience and heterozygosity in neonatal hyperglycenemiaAnnals of Neurology, 53
S. Kure, K. Kojima, A. Ichinohe, T. Maeda, R. Kalmanchey, G. Fekete, Suzan Berg, J. Filiano, Y. Aoki, Yoichi Suzuki, T. Izumi, Y. Matsubara (2002)
Heterozygous GLDC and GCSH gene mutations in transient neonatal hyperglycinemiaAnnals of Neurology, 52
(2003)
Prognosis in nonketotic hyperglycinemia
J. Toone, D. Applegarth, M. Coulter-Mackie, E. James (2000)
Biochemical and molecular investigations of patients with nonketotic hyperglycinemia.Molecular genetics and metabolism, 70 2
D. Aliefendioglu, A. Aslan, T. Coşkun, A. Dursun, F. Cakmak, M. Kesimer (2003)
Transient nonketotic hyperglycinemia: two case reports and literature review.Pediatric neurology, 28 2
Avihu Boneh, Yaron Degani, Michael Harari (1996)
Prognostic clues and outcome of early treatment of nonketotic hyperglycinemia.Pediatric neurology, 15 2
R. Schutgens (1995)
The metabolic and molecular bases of inherited disease, seventh edition—3-volume set Edited by Charles R. Scriver, Arthur L. Beaudet, William S. Sly, and David Valle. New York, McGraw-Hill, 1995, $285.84 (xxxvi + 4605 pages and 93-page index), ISBN 0-07909-826-6Trends in Endocrinology & Metabolism, 6
C. Choi, H. Lee, J. Yoon (2001)
Localized Proton MR Spectroscopic Detection of Nonketotic Hyperglycinemia in an InfantKorean Journal of Radiology, 2
Huisman (2002)
858Eur Radiol, 12
Korman (2002)
712Dev Med Child Neurol, 44
Van Hove (2003)
71J Inherit Metab Dis, 26
Huisman Huisman, Thiel Thiel, Steinmann Steinmann (2002)
Proton magnetic resonance spectroscopy of the brain of a neonate with nonketotic hyperglycinemia: in vivo‐in vitro (ex vivo) correlationEur Radiol, 12
S. Korman, A. Gutman (2002)
Pitfalls in the diagnosis of glycine encephalopathy (non-ketotic hyperglycinemia).Developmental medicine and child neurology, 44 10
P. Slater, S. McConnell, S. D'Souza, A. Barson (1993)
Postnatal changes in N‐methyl‐D‐aspartate receptor binding and stimulation by glutamate and glycine of [3H]‐MK‐801 binding in human temporal cortexBritish Journal of Pharmacology, 108
(2003)
Natural history of glycine encephalopathy in 65 patients
Hamosh (2001)
2065
S. Kure, M. Takayanagi, K. Narisawa, K. Tada, J. Leisti (1992)
Identification of a common mutation in Finnish patients with nonketotic hyperglycinemia.The Journal of clinical investigation, 90 1
Hoover-Fong (2003)
64J Inherit Metab Dis, 26
Three of four nonketotic hyperglycinemia patients homozygous for a novel GLDC mutation (A802V) were treated by assisted respiration and/or sodium benzoate with or without ketamine and had transient neonatal or absent symptoms and normal developmental outcome, despite persisting biochemical evidence of nonketotic hyperglycinemia. This exceptional outcome may be related to the high residual activity of the mutant protein (32% of wild type) and therapeutic intervention during a critical period of heightened brain exposure and sensitivity to glycine. Ann Neurol 2004;56:139–143
Annals of Neurology – Wiley
Published: Jul 1, 2004
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