Literature DB >> 1309867

Enzymatic diagnosis of nonketotic hyperglycinemia with lymphoblasts.

S Kure1, K Narisawa, K Tada.   

Abstract

We developed a new enzymatic assay for the glycine cleavage system that used Epstein-Barr virus-transformed lymphoblasts instead of liver biopsy specimens. Patients with nonketotic hyperglycinemia from a deficiency of P-protein could be clearly distinguished from control subjects by activities in their lymphoblasts, suggesting the clinical usefulness of this method.

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Year:  1992        PMID： 1309867     DOI： 10.1016/s0022-3476(05)80610-9

Source DB:  PubMed          Journal:  J Pediatr        ISSN： 0022-3476            Impact factor:   4.406


  10 in total

1.  Pulmonary hypertension associated with nonketotic hyperglycinaemia.

Authors:  S Cataltepe; L J van Marter; H Kozakewich; D L Wessel; P J Lee; H L Levy
Journal:  J Inherit Metab Dis       Date:  2000-03       Impact factor: 4.982

2.  A single nucleotide substitution that abolishes the initiator methionine codon of the GLDC gene is prevalent among patients with glycine encephalopathy in Jerusalem.

Authors:  Avihu Boneh; Stanley H Korman; Kenichi Sato; Junko Kanno; Yoichi Matsubara; Israela Lerer; Ziva Ben-Neriah; Shigeo Kure
Journal:  J Hum Genet       Date:  2005-04-29       Impact factor: 3.172

3.  Identification of a common mutation in Finnish patients with nonketotic hyperglycinemia.

Authors:  S Kure; M Takayanagi; K Narisawa; K Tada; J Leisti
Journal:  J Clin Invest       Date:  1992-07       Impact factor: 14.808

4.  Diagnosis and treatment of neurotransmitter disorders.

Authors:  Phillip L Pearl; Thomas R Hartka; Jacob Taylor
Journal:  Curr Treat Options Neurol       Date:  2006-11       Impact factor: 3.598

5.  Genetic heterogeneity of the GLDC gene in 28 unrelated patients with glycine encephalopathy.

Authors:  C Conter; M O Rolland; D Cheillan; V Bonnet; I Maire; R Froissart
Journal:  J Inherit Metab Dis       Date:  2006-02       Impact factor: 4.982

6.  Non-ketotic hyperglycinaemia presenting as pachygyria.

Authors:  J M Fletcher; A M Bye; V Nayanar; B Wilcken
Journal:  J Inherit Metab Dis       Date:  1995       Impact factor: 4.982

7.  Glycine turnover and decarboxylation rate quantified in healthy men and women using primed, constant infusions of [1,2-(13)C2]glycine and [(2)H3]leucine.

Authors:  Yvonne Lamers; Jerry Williamson; Lesa R Gilbert; Peter W Stacpoole; Jesse F Gregory
Journal:  J Nutr       Date:  2007-12       Impact factor: 4.798

Review 8.  Non-ketotic hyperglycinaemia: molecular lesion, diagnosis and pathophysiology.

Authors:  K Tada; S Kure
Journal:  J Inherit Metab Dis       Date:  1993       Impact factor: 4.982

9.  Mutations in genes encoding the glycine cleavage system predispose to neural tube defects in mice and humans.

Authors:  Ayumi Narisawa; Shoko Komatsuzaki; Atsuo Kikuchi; Tetsuya Niihori; Yoko Aoki; Kazuko Fujiwara; Mitsuyo Tanemura; Akira Hata; Yoichi Suzuki; Caroline L Relton; James Grinham; Kit-Yi Leung; Darren Partridge; Alexis Robinson; Victoria Stone; Peter Gustavsson; Philip Stanier; Andrew J Copp; Nicholas D E Greene; Teiji Tominaga; Yoichi Matsubara; Shigeo Kure
Journal:  Hum Mol Genet       Date:  2011-12-13       Impact factor: 6.150

10.  Biochemical and molecular predictors for prognosis in nonketotic hyperglycinemia.

Authors:  Michael A Swanson; Curtis R Coughlin; Gunter H Scharer; Heather J Szerlong; Kendra J Bjoraker; Elaine B Spector; Geralyn Creadon-Swindell; Vincent Mahieu; Gert Matthijs; Julia B Hennermann; Derek A Applegarth; Jennifer R Toone; Suhong Tong; Kristina Williams; Johan L K Van Hove
Journal:  Ann Neurol       Date:  2015-08-10       Impact factor: 10.422
  10 in total

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