Results 131 to 140 of about 5,529 (148)

Exploring Secondary Biotinidase Deficiency and Biotin Supplementation in PMM2-CDG

Neuropediatrics
Abstract The congenital disorders of glycosylation (CDG) encompass >190 multiorgan disorders with predominantly neurodevelopmental phenotypes with no causative treatment available. The glycoprotein biotinidase (BTD) provides biotin, an essential cofactor for carboxylases in ubiquitous metabolic pathways.
Nastassja Himmelreich, Sven F. Garbade, Jürgen G. Okun, Simone Hengst, Virginia Geiger, Rita Barone, Saskia B. Wortmann, Christian Thiel   +7 more
openaire   +2 more sources

Pharmacological Chaperoning: A Potential Treatment for PMM2-CDG.

Human mutation, 2018
The congenital disorder of glycosylation (CDG) due to phosphomannomutase 2 deficiency (PMM2-CDG), the most common N-glycosylation disorder, is a multisystem disease for which no effective treatment is available. The recent functional characterization of disease-causing mutations described in patients with PMM2-CDG led to the idea of a therapeutic ...
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

Phosphomannomutase deficiency (PMM2-CDG)

Phosphomannomutase deficiency (PMM2-CDG) is the most frequent congenital disorder of glycosylation. The cerebellum is nearly always affected in PMM2-CDG patients, a cerebellar atrophy progression is observed, and cerebellar dysfunction is their main daily functional limitation. Different therapeutic agents are under development, and clinical evaluation
Serrano, Mercedes||, De Diego, Victor, Muchart, Jordi, Cuadras, Daniel||, Felipe-Rucián, Ana||, Macaya Ruiz, Alfons||, Velázquez-Fragua, Ramón, Poo, M. Pilar, Fons, Carmen||, O'Callaghan, Maria del Mar||, García-Cazorla, Angels||, Boix, Cristina, Robles, Bernabé, Carratalá, Francisco, Girós, Marisa, Briones, Paz, Gort, Laura||, Artuch, R.||, Pérez-Cerdá, Celia, Jaeken, Jaak, Pérez, Belén||, Pérez-Dueñas, Belén||   +21 more
openaire   +1 more source

PMM2‐CDG and sensorineural hearing loss

Journal of Inherited Metabolic Disease, 2017
Matthijs, Gert, Kasapkara, Cigdem Seher, Baris, ZEREN, Kilic, Mustafa, Yuksel, Deniz, Keldermans, Lies, Jaeken, Jaak   +6 more
openaire   +2 more sources

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

The Effects of PMM2-CDG-Causing Mutations on the Folding, Activity, and Stability of the PMM2 Protein

Human Mutation, 2015
Celia Pérez-Cerdá, Alejandra Gamez, Belén Pérez   +2 more
exaly  

Pharmacological Chaperoning: A Potential Treatment for PMM2-CDG

Human Mutation, 2017
Celia Pérez-Cerdá, Alejandra Gamez, Belén Pérez   +2 more
exaly  

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

Human Mutation, 2000
Nathalie Seta, Tommy Martinsson, Els Schollen   +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  

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Frontiers in Genetics, 2020
Hana Hansíková, Petr Jabandziev, Petra Kleiblova   +2 more
exaly