Results 151 to 160 of about 2,105 (164)

RECURRENT THROMBO-EMBOLISM IN A CHILD WITH A CONGENITAL DISORDER OF GLYCOSYLATION (CDG) TYPE IB AND TREATMENT WITH MANNOSE

Pediatric Hematology and Oncology, 2008
W A Kamps
exaly  

Congenital Disorders of Glycosylation (CDG), Neuromuscular Related Diseases

2019
Yoshinao Wada, Tadashi Suzuki, Tamao Endo   +2 more
openaire   +1 more source

A Population-Based Study on Congenital Disorders of Protein N- and Combined with O-Glycosylation Experience in Clinical and Genetic Diagnosis

Journal of Pediatrics, 2017
Celia Medrano, Mercedes Serrano, Belén Pérez   +2 more
exaly  

Congenital disorders of glycosylation (CDG) may be underdiagnosed when mimicking mitochondrial disease

European Journal of Paediatric Neurology, 2001
Mercè Pineda i Marfà, Jaak Jaeken, Amparo Chabás   +2 more
exaly  

Neurological manifestations in PMM2-congenital disorders of glycosylation (PMM2-CDG): Insights into clinico-radiological characteristics, recommendations for follow-up, and future directions

Genetics in Medicine
Anna Ligęzka, Eva Morava, Marc C. Patterson   +2 more
exaly  

Genomic organization of the human phosphomannose isomerase (MPI) gene and mutation analysis in patients with congenital disorders of glycosylation type Ib (CDG-Ib)

Human Mutation, 2000
Els Schollen, Otto P van Diggelen
exaly  

Screening for Congenital Disorders of Glycosylation (CDG)

openaire   +1 more source

Clinical perspectives on congenital disorders of glycosylation (CDG)

Molecular Genetics and Metabolism
openaire   +1 more source

PMM2-CDG (Congenital disorders of glycosylation, type Ia)

2020
openaire   +1 more source

PGM1 CDG a surprising congenital disorder of glycosylation

2013
RYMEN, DAISY, BİDECİ, AYSUN, KASAPKARA, ÇİĞDEM SEHER, HASANOĞLU, ALEV, KÜÇÜKÇONGAR, AYNUR, TÜMER, LEYLA, EZGÜ, FATİH SÜHEYL, JAEKEN, JAAK, MATTHIJS, GERT, DALGIÇ, BUKET   +9 more
openaire   +1 more source