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Articles 1 registres trobats  
1.
2 p, 436.6 KB Mutational spectrum and phenotypic variability of VCP-related neurological disease in the UK / Figueroa Bonaparte, Sebastián (Institut d'Investigació Biomèdica Sant Pau) ; Hudson, J (The John Walton Muscular Dystrophy Research Centre and MRC Centre for Neuromuscular Diseases, Institute of Genetic Medicine, Newcastle University) ; Barresi, R (Rare Diseases Advisory Group Service for Neuromuscular Diseases, Muscle Immunoanalysis Unit, Dental Hospital) ; Polvikoski, T (Institute of Neuroscience, Newcastle University) ; Williams, T (Royal Victoria Infirmary) ; Töpf, A (The John Walton Muscular Dystrophy Research Centre and MRC Centre for Neuromuscular Diseases, Institute of Genetic Medicine, Newcastle University) ; Harris, E (The John Walton Research Centre and MRC Centre for Neuromuscular Diseases, Institute of Genetic Medicine, Newcastle University) ; Hilton-Jones, D (John Radcliffe Hospital) ; Petty, R (Southern General Hospital) ; Willis, T A (The Robert Jones and Agnes Hunt Orthopaedic Hospital) ; Longman, C (Southern General Hospital) ; Dougan, C F (The Walton Centre for Neurology and Neurosurgery) ; Parton, M J (UCL MRC Centre for Neuromuscular Disease, Institute of Neurology and National Hospital for Neurology and Neurosurgery) ; Hanna, M G (MRC Centre for Neuromuscular Disease and National Hospital for Neurology and Neurosurgery) ; Quinlivan, R (UCL MRC Centre for Neuromuscular Disease, Institute of Neurology and National Hospital for Neurology and Neurosurgery) ; Farrugia, M E (Southern General Hospital) ; Guglieri, M (The John Walton Muscular Dystrophy Research Centre and MRC Centre for Neuromuscular Diseases, Institute of Genetic Medicine, Newcastle University) ; Bushby, K (The John Walton Muscular Dystrophy Research Centre and MRC Centre for Neuromuscular Diseases, Institute of Genetic Medicine, Newcastle University) ; Straub, V (The John Walton Muscular Dystrophy Research Centre and MRC Centre for Neuromuscular Diseases, Institute of Genetic Medicine, Newcastle University) ; Lochmüller, H (The John Walton Muscular Dystrophy Research Centre and MRC Centre for Neuromuscular Diseases, Institute of Genetic Medicine, Newcastle University) ; Evangelista, T (The John Walton Muscular Dystrophy Research Centre and MRC Centre for Neuromuscular Diseases, Institute of Genetic Medicine, Newcastle University)
2015 - 10.1136/jnnp-2015-310362
Journal of Neurology, Neurosurgery, and Psychiatry, Vol. 87 (june 2015) , p. 680-681  

Documents de recerca 1 registres trobats  
1.
225 p, 4.8 MB Estudio prospectivo clínico y radiológico de la enfermedad de Pompe del adulto / Figueroa Bonaparte, Sebastián Ariel, autor. ; Diaz Manera, Jorge Alberto, supervisor acadèmic. ; Illa Sendra, Isabel, supervisor acadèmic. ; Universitat Autònoma de Barcelona. Departament de Medicina.
La terapia de reemplazo enzimático (TRE) ha demostrado ser efectiva para la enfermedad de Pompe del adulto (EPA). El descubrimiento de biomarcadores útiles para la monitorización de la progresión de la enfermedad es uno de los tópicos de investigación prioritarios en esta enfermedad. [...]
Enzyme replacement therapy has shown to be effective for late onset Pompe disease (LOPD). The discovery of biomarkers useful for monitoring disease progression is one of the priority research topics in Pompe disease. [...]

[Barcelona] : Universitat Autònoma de Barcelona, 2019.  

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