Literature DB >> 10728197

Carbohydrate-deficient glycoconjugate (CDG) syndromes: a new chapter of neuropaediatrics.

J Jaeken1, P Casaer.   

Abstract

Entities:  

Mesh：

Substances：

Year:  1997        PMID： 10728197     DOI： 10.1016/s1090-3798(97)80064-5

Source DB:  PubMed          Journal:  Eur J Paediatr Neurol        ISSN： 1090-3798            Impact factor:   3.140


× No keyword cloud information.
  3 in total

1.  Carbohydrate-deficient glycoprotein syndromes: the Italian experience.

Authors:  M Di Rocco; R Barone; A Adami; A Burlina; M Carrozzi; C Dionisi-Vici; R Gatti; P Iannetti; R Parini; U Raucci; M Roccella; M Spada; A Fiumara
Journal:  J Inherit Metab Dis       Date:  2000-06       Impact factor: 4.982

2.  Transferrin protein variant mimicking carbohydrate-deficient glycoprotein syndrome in trisomy 7 mosaicism.

Authors:  C Knopf; R Rod; J Jaeken; M Berant; E Van Schaftingen; J P Fryns; R Brill-Zamir; R Gershoni-Baruch; S Lischinsky; H Mandel
Journal:  J Inherit Metab Dis       Date:  2000-06       Impact factor: 4.982

3.  Lack of homozygotes for the most frequent disease allele in carbohydrate-deficient glycoprotein syndrome type 1A.

Authors:  G Matthijs; E Schollen; E Van Schaftingen; J J Cassiman; J Jaeken
Journal:  Am J Hum Genet       Date:  1998-03       Impact factor: 11.025
  3 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.