Results 101 to 110 of about 2,410 (179)

Metabolomics characterization of PMM2-CDG patients' fibroblasts

, 2019
Metabolomics characterization of PMM2-CDG patients' fibroblasts-Short Term Mobility 2019 @ Centro de Diagnóstico de Enfermedades Moleculares, Facultad de Ciencias, Universidad Autónoma de Madrid.
G Andreotti
core  

Mapping the diagnostic odyssey of congenital disorders of glycosylation (CDG): insights from the community

Orphanet Journal of Rare Diseases
Background Congenital disorders of glycosylation (CDG) are a group of rare metabolic diseases with heterogeneous presentations, leading to substantial diagnostic challenges, which are poorly understood.
Pedro Granjo, Carlota Pascoal, Diana Gallego, Rita Francisco, Jaak Jaeken, Tristen Moors, Andrew C. Edmondson, Kristin A. Kantautas, Mercedes Serrano, Paula A. Videira, Vanessa dos Reis Ferreira   +10 more
doaj   +1 more source

Subnano time to digital converter implemented in PARISROC for PMm2 R&D program

, 2010
International audiencePARISROC is a complete read out chip, in a BiCMOS SiGe 0.35μm technology from AustriaMicroSystems, for photomultipliers array. It allows triggerless acquisition for next generation neutrino experiments and is part of a R&D program ...
A El Berni, F Dulucq, El Berni, A., Yun Ky, B., B Yun Ky, E Wanlin, C de La Taille, G Martin-Chassard, Drouet, S., Martin-Chassard, G., Conforti Di Lorenzo, S., de La Taille, C., Dulucq, F., S Conforti Di Lorenzo, S Drouet, Wanlin, E.   +15 more
core   +1 more source

PMM2-CDG [PDF]

, 2020
openaire   +1 more source

Modeling human PMM2-CDG in medaka to understand systemic effects of hypoglycosylation on development

Congenital disorders of glycosylation (CDG) are a group of rare metabolic diseases caused by mutations in the enzymes involved in glycosylation. To date, no conclusive pathogenic mechanism is linked to the disease and there are only limited therapeutic ...
Pakari, Kaisa
core   +1 more source

Phosphomannomutase deficiency (PMM2-CDG) : ataxia and cerebellar assessment

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 ...
Gort, Laura, Pérez, Belén, Fons, Carmen, Felipe, Ana, García-Cazorla, Angels, O'Callaghan, M. Mar, Macaya Ruiz, Alfons, Artuch, Rafael, Cuadras, Daniel, Jaeken, Jaak, Pérez-Cerdá, Celia, de Diego, Víctor, Briones, Paz, Girós, Marisa, Hospital Universitari Vall d'Hebron. Secció de Neurologia Pediàtrica, Velázquez, Ramón, Muchart, Jordi, Poo, M. Pilar, Pérez-Dueñas, Belén, Boix, Cristina, Universitat Autònoma de Barcelona, Robles, Bernabé, Serrano, Mercedes, Carratalá, Francisco   +23 more
core  

Integrated glycoproteomics reveals site-specific N-glycosylation defects in phosphomannomutase two congenital disorder of glycosylation. [PDF]

J Biol Chem
Nilsson J, Mirgorodskaya E, Wallem CS, Noborn F, Eklund EA, Larson G, Blomqvist M.   +6 more
europepmc   +1 more source

Recurrent fetal truncus arteriosus associated with PMM2‐CDG

JIMD Reports, 2021
Filipa Malheiro, Manuela Silva, Carlos Macedo, Carla Ramalho   +3 more
openaire   +3 more sources

Bisphenol A exposure in myasthenia gravis: Potential targets and mechanisms revealed by network toxicology and molecular dynamics. [PDF]

PLoS One
Wu S, Wu Y, Zhang L, Zhu J.
europepmc   +1 more source

Establishing an auxin-inducible GFP nanobody-based acute protein knockdown system to mimic hypomorphic mutations during early medaka embryogenesis. [PDF]

Biol Open
Pakari K, Jakab S, Rasch J, Salvador ES, Wittbrodt B, Thiel C, Wittbrodt J, Thumberger T.   +7 more
europepmc   +2 more sources