Results 111 to 120 of about 794 (130)

Thyroid function in PMM2-CDG: Diagnostic approach and proposed management

Molecular Genetics and Metabolism, 2012
Glycoproteins are essential in the production, transport, storage and regulation of thyroid hormones. Altered glycosylation has a potential impact on thyroid function. Abnormal thyroid function tests have been described in patients with congenital disorders of glycosylation.
Mohamed, M., Theodore, M., Claahsen-van der Grinten, H.L., van Herwaarden, A.E., van Herwaarden, A.E., Huijben, K., van Dongen, L., Kouwenberg, D., Lefeber, D.J., Lefeber, D.J., Wevers, R.A., Wevers, R.A., Wevers, R.A., Morava, E., Morava, E.   +14 more
openaire   +3 more sources

From gestalt to gene: early predictive dysmorphic features of PMM2-CDG

Journal of Medical Genetics, 2018
Introduction Phosphomannomutase-2 deficiency (PMM2-CDG) is associated with a recognisable facial pattern. There are no early severity predictors for this disorder and no phenotype–genotype correlation. We performed a detailed dysmorphology evaluation to describe facial gestalt and its changes over time, to train ...
Antonio Martinez-Monseny, Daniel Cuadras, Mercè Bolasell, Jordi Muchart, César Arjona, Mar Borregan, Adi Algrabli, Raquel Montero, Rafael Artuch, Ramón Velázquez-Fragua, Alfons Macaya, Celia Pérez-Cerdá, Belén Pérez-Dueñas, Belén Pérez, Mercedes Serrano   +14 more
openaire   +3 more sources

Clinical Assessment of Dysarthria in Children with Cerebellar Syndrome Associated with PMM2-CDG

Neuropediatrics, 2018
Phosphomannomutase deficiency (PMM2-CDG) causes a cerebellar syndrome that has been evaluated using the International Cooperative Ataxia Rating Scale (ICARS). However, no particular dysarthria tests have been used. Speech ICARS subscore subjectively assesses fluency and clarity of speech with two items.
Itzep D, Martínez-Monseny AF, Bolasell M, Cuadras D, Velázquez-Fragua R, Gutierrez-Solana LG, Macaya A, Pérez-Dueñas B, Serrano M   +8 more
openaire   +3 more sources

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
Çiğdem Seher Kasapkara, Zeren Barış, Mustafa Kılıç, Deniz Yüksel, Lies Keldermans, Gert Matthijs, Jaak Jaeken   +6 more
openaire   +1 more source

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
Alejandra Gámez, Maria Belén Pérez Gonzalez   +1 more
exaly  

Pharmacological Chaperoning: A Potential Treatment for PMM2-CDG

Human Mutation, 2017
Alejandra Gámez, Maria Belén Pérez Gonzalez, Jarl Underhaug   +2 more
exaly