Results 121 to 130 of about 794 (130)

Long-term follow-up in PMM2-CDG: are we ready to start treatment trials?

Genetics in Medicine, 2019
Gert Matthijs, Eva Morava, Arnaud Bruneel   +2 more
exaly  

Mutations in PMM2 that cause congenital disorders of glycosylation, type Ia (CDG-Ia)

Human Mutation, 2000
Nathalie Seta, Tommy Martinsson
exaly  

A nationwide survey of PMM2-CDG in Italy: high frequency of a mild neurological variant associated with the L32R mutation

Journal of Neurology, 2014
Rita Barone, Maja Di Rocco
exaly  

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

JIMD Reports, 2017
Mari-Anne Vals, Reedik Magi, Katrin Õunap   +2 more
exaly  

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

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  

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

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

2020
openaire   +1 more source

HUMORAL IMMUNE DEFICIENCY IN A PATIENT WITH PHOSPHOMANNOMUTASE DEFICIENCY (PMM2-CDG)

2016
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