Literature DB >> 7707699

Unreliable verification of prenatal diagnosis of Canavan disease: aspartoacylase activity in deficient and normal fetal skin fibroblasts.

M O Rolland1, G Mandon, A Bernard, M T Zabot, M Mathieu.   

Abstract

Entities:  

Mesh：

Substances：

Year:  1994        PMID： 7707699     DOI： 10.1007/bf00712018

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


× No keyword cloud information.
  3 in total

1.  N-acetylaspartic aciduria due to aspartoacylase deficiency--a new aetiology of childhood leukodystrophy.

Authors:  L Hagenfeldt; I Bollgren; N Venizelos
Journal:  J Inherit Metab Dis       Date:  1987       Impact factor: 4.982

2.  Reliable prenatal diagnosis of Canavan disease (aspartoacylase deficiency): comparison of enzymatic and metabolite analysis.

Authors:  M J Bennett; K M Gibson; W G Sherwood; P Divry; M O Rolland; O N Elpeleg; P Rinaldo; C Jakobs
Journal:  J Inherit Metab Dis       Date:  1993       Impact factor: 4.982

Review 3.  Canavan disease: biochemical and molecular studies.

Authors:  R Matalon; R Kaul; K Michals
Journal:  J Inherit Metab Dis       Date:  1993       Impact factor: 4.982
  3 in total
  3 in total

1.  Prenatal diagnosis of Canavan disease--problems and dilemmas.

Authors:  G T Besley; O N Elpeleg; A Shaag; N J Manning; C Jakobs; J H Walter
Journal:  J Inherit Metab Dis       Date:  1999-05       Impact factor: 4.982

2.  The spectrum of mutations of the aspartoacylase gene in Canavan disease in non-Jewish patients.

Authors:  O N Elpeleg; A Shaag
Journal:  J Inherit Metab Dis       Date:  1999-06       Impact factor: 4.982

3.  The molecular basis of canavan (aspartoacylase deficiency) disease in European non-Jewish patients.

Authors:  A Shaag; Y Anikster; E Christensen; J Z Glustein; A Fois; H Michelakakis; F Nigro; E Pronicka; A Ribes; M T Zabot
Journal:  Am J Hum Genet       Date:  1995-09       Impact factor: 11.025
  3 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.