Literature DB >> 7807948

Prenatal diagnosis of non-ketotic hyperglycinaemia: experience in 50 at-risk pregnancies.

J R Toone1, D A Applegarth, H L Levy.   

Abstract

Entities:  

Mesh：

Substances：

Year:  1994        PMID： 7807948     DOI： 10.1007/bf00711825

Source DB:  PubMed          Journal:  J Inherit Metab Dis        ISSN： 0141-8955            Impact factor:   4.982


× No keyword cloud information.
  4 in total

1.  Prenatal diagnosis of nonketotic hyperglycinemia: enzymatic analysis of the glycine cleavage system in chorionic villi.

Authors:  K Hayasaka; K Tada; N Fueki; J Aikawa
Journal:  J Pediatr       Date:  1990-03       Impact factor: 4.406

2.  Non-ketotic hyperglycinaemia: glycine/serine ratio in amniotic fluid--an unreliable method for prenatal diagnosis.

Authors:  M J Garcia-Muñoz; J Belloque; B Merinero; C Pérez-Cerdá; P Sanz; M Ugarte
Journal:  Prenat Diagn       Date:  1989-07       Impact factor: 3.050

3.  Prenatal diagnosis of nonketotic hyperglycinemia.

Authors:  J M García-Castro; C M Isales-Forsythe; H L Levy; V E Shih; C R Laó-Vélez; M D González-Ríos; L C Reyes de Torres
Journal:  N Engl J Med       Date:  1982-01-14       Impact factor: 91.245

4.  Prenatal diagnosis of non-ketotic hyperglycinaemia.

Authors:  J R Toone; D A Applegarth; H L Levy
Journal:  J Inherit Metab Dis       Date:  1992       Impact factor: 4.982
  4 in total
  2 in total

1.  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

2.  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
  2 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.