Results 121 to 130 of about 7,768 (132)

Severe transient myocardial ischaemia caused by hypertrophic cardiomyopathy in a patient with congenital disorder of glycosylation type Ia

European Journal of Pediatrics, 2002
Hans Gerd Kehl, Thorsten Marquardt, Erik Harms   +2 more
exaly  

Expanding the phenotype of phosphomannomutase-2 gene congenital disorder of glycosylation: Cervical dystonia

Journal of the Neurological Sciences, 2017
Marcelo Merello, Lucía Ameghino, Malco Rossi   +2 more
exaly  

Increased fucosylation and reduced branching of serum glycoprotein N-glycans in all known subtypes of congenital disorder of glycosylation I.

Glycobiology, 2003
Gert Matthijs, Jaak Jaeken, Nico Callewaert   +2 more
exaly  

Risk assessment of acute vascular events in congenital disorder of glycosylation type Ia

Molecular Genetics and Metabolism, 2008
Francis Brunelle, Nathalie Seta, Nathalie Boddaert   +2 more
exaly  

Congenital disorder of glycosylation (CDG)-Ih patient with a severe hepato-intestinal phenotype and evolving central nervous system pathology

Journal of Pediatrics, 2005
Hudson H. Freeze, Fernando Scaglia, Liangwu Sun   +2 more
exaly  

SRD5A3-CDG: Expanding the phenotype of a congenital disorder of glycosylation with emphasis on adult onset features

American Journal of Medical Genetics, Part A, 2016
Hudson H. Freeze, Martin Kircher, Matthew T Pastore   +2 more
exaly  

Increased α3-fucosylation of α1-acid glycoprotein in patients with congenital disorder of glycosylation type IA (CDG-Ia)

FEBS Letters, 2001
Jaak Jaeken, Bert van Het Hof, Willem van Dijk   +2 more
exaly  

Congenital disorder of glycosylation type 1T with a novel truncated homozygous mutation in PGM1 gene and literature review

Neuromuscular Disorders, 2019
wotu Tian, Sheng-Di Chen, Li Cao
exaly  

SLC35A2-related congenital disorder of glycosylation: Defining the phenotype

European Journal of Paediatric Neurology, 2018
Gaetan Lesca, Mohnish Suri, Ann-Charlotte Thuresson   +2 more
exaly  

Complex phenotypes in ALG12-congenital disorder of glycosylation (ALG12-CDG): Case series and review of the literature

Molecular Genetics and Metabolism, 2019
Eva Morava, Shawn Tahata
exaly