Results 151 to 160 of about 1,755 (160)

Carbohydrate-deficient glycoprotein syndrome type 1A: expression and characterisation of wild type and mutant PMM2 in E. coli

European Journal of Human Genetics, 1999
S Kjaergaard, Skovby Flemming, Schwartz Marianne   +2 more
exaly  

Pharmacological Chaperoning: A Potential Treatment for PMM2-CDG

Human Mutation, 2017
Alejandra Gámez, Maria Belén Pérez Gonzalez, Jarl Underhaug   +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  

Pharmacological Chaperoning: A Potential Treatment for PMM2-CDG

Human Mutation, 2016
Patricia Yuste-Checa, Sandra Brasil, Alejandra Gámez, Jarl Underhaug, Lourdes R Desviat, Magdalena Ugarte, Celia Pérez-Cerdá, Aurora Martinez, Belén Pérez   +8 more
openaire   +1 more source

Proteomic analysis of platelet N-glycoproteins in PMM2-CDG patients

Thrombosis Research, 2014
Me De La Morena-Barrio, Vicente V, Kathleen Freson   +2 more
exaly  

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  

Status of PMm2

2009
openaire   +1 more source

Transcriptomic analysis identifies dysregulated pathways and therapeutic targets in PMM2-CDG

Biochimica Et Biophysica Acta - Molecular Basis of Disease
JOSÉ Córdoba-Caballero, Mercedes Serrano, Alejandra Gámez   +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