Results 141 to 148 of about 5,529 (148)

The Prevalence of PMM2-CDG in Estonia Based on Population Carrier Frequencies and Diagnosed Patients

JIMD Reports, 2017
Mari-Anne Vals, Reedik Mägi, Katrin Õunap   +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  

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

2020
openaire   +1 more source

A survey on Italian Patients with PMM2-CDG

2013
BARONE, RITA MARIA ELISA, Carrozzi M, Cosentini D, Dionisi Vici C, Di Rocco M, Garozzo D, Lilliu F, Spada M, Sturiale L, FIUMARA, Agata   +9 more
openaire   +1 more source

Suspected central adrenal insufficiency in a patient with PMM2-CDG

Endocrine Abstracts
Odum Sofie-Louise Feentved, Sabine Gronborg, Main Katharina M., Marianne Klose   +3 more
openaire   +1 more source

AAV9-based gene replacement augments PMM2 expression and improves glycosylation in primary fibroblasts of patients with phosphomannomutase 2 deficiency (PMM2-CDG)

Molecular Genetics and Metabolism Reports
exaly  

Functional characterization of PMM2-CDG patient-derived iPSCs

Büttner, Falk F. R., Thiesler, Christina Theda, Hoffmann, Dirk, Cajic, Samanta, Hennig, René   +4 more
openaire   +1 more source

Clinical and Molecular Characterization of 11 Turkish Patients with PMM2-CDG

2019
YILDIZ, YILMAZ, ARSLAN, MUTLUAY, DURSUN, ALİ, TOKATLI, AYŞEGÜL, COŞKUN, TURGAY, SİVRİ, HATİCE SERAP, KASAPKARA, ÇİĞDEM SEHER   +6 more
openaire   +1 more source