Results 161 to 170 of about 7,542 (179)
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Congenital disorder of glycosylation (CDG)-Ih patient with a severe hepato-intestinal phenotype and evolving central nervous system pathology

Journal of Pediatrics, 2005
Hudson Freeze   +2 more
exaly  

Glycosylation, Congenital Disorders of

2013
B.G. Ng, H.H. Freeze
openaire   +1 more source

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 Freeze   +2 more
exaly  

Congenital Disorders of Glycosylation

2014
Jaak Jaeken, Lambert van den Heuvel
openaire   +1 more source

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

FEBS Letters, 2001
Jaak Jaeken, W Van Dijk
exaly  

Congenital Disorders in Glycosylation

2011
openaire   +1 more source

Identification of a frequent variant inALG6, the cause of Congenital Disorder of Glycosylation-Ic

Human Mutation, 2003
Hudson Freeze, Pui-Yan Kwok
exaly  

Congenital Disorders of Glycosylation

Nastassja Himmelreich   +4 more
openaire   +1 more source

Congenital disorder of glycosylation type Ia presenting as early-onset cerebellar ataxia in an adult

Movement Disorders, 2006
John O'Sullivan
exaly  

Glycosylation, Congenital Disorders of

2009
David J. Timson   +99 more
openaire   +1 more source
glycosylation
congenital disorders of glycosylation
3. good health
humans
female
male
cdg
child
genetics
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