Results 171 to 179 of about 7,542 (179)

Cutis laxa with frontoparietal cortical malformation: A novel type of congenital disorder of glycosylation

European Journal of Paediatric Neurology, 2008
Yoshiaki Saito, Tohru Okanishi, Mazumi Miura   +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  

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, Cao Li
exaly  

Congenital Disorders of Glycosylation

2005
openaire   +1 more source

Congenital Disorders in Glycosylation

2005
openaire   +1 more source

Glycosylation, Congenital Disorders of

2012
openaire   +1 more source

A novel SSR4 variant associated with congenital disorder of glycosylation: a case report and related analysis

Frontiers in Genetics
Wenqiang Sun, Sun Wenqiang, Zhu Xueping   +2 more
exaly  

Glycosylation, Congenital Disorders of

2004
openaire   +1 more source

Glycoproteomics of congenital disorders of glycosylation and secondary glycosylation disorders

2007
BARONE, RITA MARIA ELISA, L. STURIALE, A. MESSINA, A. PALMIGIANO, D. GAROZZO   +4 more
openaire   +2 more sources