Results 161 to 164 of about 1,300 (164)

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

2020
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

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

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