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Registro de pacientes con distrofinopatías en Colombia
(Universidad del RosarioMaestría en Ciencias con Énfasis en Genética HumanaFacultad de medicina, 2016)
INTRODUCTION. Duchenne muscular dystrophy is a neuromuscular disease with X-linked recessive inheritance that affects 1 in 3, 500 live births. It is caused by mutations in the DMD gene coding for dystrophin. It is characterized ...
Aumento de transaminasas: una manifestación de distrofia muscular de Duchenne
(Sociedad Chilena de Pediatría, 2012)
Commonly used in clinical practice, glutamic oxalacetic (GOT) and glutamic piruvic (GPT) transaminases are
produced in various body tissues, including striated muscle, so their blood elevation is not due exclusively ...
Analysis of the DMPK gene CTG repeat in healthy Brazilians
(Sociedade Brasileira de Genética, 2019)
Ringo, a Golden Retriever Muscular Dystrophy (GRMD) dog with absent dystrophin but normal strength
(PERGAMON-ELSEVIER SCIENCE LTD, 2008)
Prednisone/prednisolone and deflazacort regimens in the CINRG Duchenne Natural History Study
(Lippincott Williams, 2015-09)
Objective: We aimed to perform an observational study of age at loss of independent ambulation (LoA) and side-effect profiles associated with different glucocorticoid corticosteroid (GC) regimens in Duchenne muscular ...
Muscle impairment in neuromuscular disease using an expiratory/inspiratory pressure ratio
(Respiratory Care, 2023)