Literature DB >> 10234618

Carbohydrate-deficient glycoprotein syndrome type 2.

H Engelhardt1, M Staudt, A Hässler, U Holzbach, P Freisinger, I Krägeloh-Mann.   

Abstract

Entities:  

Mesh：

Year:  1999        PMID： 10234618     DOI： 10.1023/a:1005422610091

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


× No keyword cloud information.
  4 in total

1.  A new variant of the carbohydrate deficient glycoproteins syndrome.

Authors:  V T Ramaekers; H Stibler; J Kint; J Jaeken
Journal:  J Inherit Metab Dis       Date:  1991       Impact factor: 4.982

2.  Carbohydrate-deficient glycoprotein syndrome type II.

Authors:  J Jaeken; P De Cock; H Stibler; C Van Geet; J Kint; V Ramaekers; H Carchon
Journal:  J Inherit Metab Dis       Date:  1993       Impact factor: 4.982

3.  Mutations in the MGAT2 gene controlling complex N-glycan synthesis cause carbohydrate-deficient glycoprotein syndrome type II, an autosomal recessive disease with defective brain development.

Authors:  J Tan; J Dunn; J Jaeken; H Schachter
Journal:  Am J Hum Genet       Date:  1996-10       Impact factor: 11.025

4.  Carbohydrate deficient glycoprotein syndrome type II: a deficiency in Golgi localised N-acetyl-glucosaminyltransferase II.

Authors:  J Jaeken; H Schachter; H Carchon; P De Cock; B Coddeville; G Spik
Journal:  Arch Dis Child       Date:  1994-08       Impact factor: 3.791
  4 in total
  2 in total

1.  Genotypes and phenotypes of patients in the UK with carbohydrate-deficient glycoprotein syndrome type 1.

Authors:  F Imtiaz; V Worthington; M Champion; C Beesley; J Charlwood; P Clayton; G Keir; N Mian; B Winchester
Journal:  J Inherit Metab Dis       Date:  2000-03       Impact factor: 4.982

Review 2.  Mouse models for congenital disorders of glycosylation.

Authors:  Christian Thiel; Christian Körner
Journal:  J Inherit Metab Dis       Date:  2011-02-24       Impact factor: 4.982
  2 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.