Results 151 to 160 of about 2,044 (163)

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

exaly  

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, Maria Belén Pérez Gonzalez   +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 Patterson   +2 more
exaly  

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

European Journal of Paediatric Neurology, 2001
Jaak Jaeken, Mercè Pineda, Paz Briones   +2 more
exaly  

Clinical features in adults with congenital disorders of glycosylation type Ia (CDG‐Ia)

American Journal of Medical Genetics, Part C: Seminars in Medical Genetics, 2007
exaly  

Clinical perspectives on congenital disorders of glycosylation (CDG)

Molecular Genetics and Metabolism
openaire   +1 more source

Screening for Congenital Disorders of Glycosylation (CDG)

openaire   +1 more source

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

2020
openaire   +1 more source

Hair changes in congenital disorders of glycosylation (CDG)

2003
M. SILENGO, VALENZISE, Mariella, S. PAGLIARDINI, M. SPADA   +3 more
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