Results 171 to 179 of about 2,410 (179)

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
María Eugenia de la Morena Barrio, Vicente Vicente, Kathleen Freson   +2 more
exaly  

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  

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
Mercedes Serrano, Alejandra Gamez, Pedro Seoane-Zonjic   +2 more
exaly  

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  

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

Multiorgan involvement and genetic spectrum of 20 Chinese patients with PMM2-CDG

Molecular Genetics and Metabolism
exaly