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Contribución de la genética molecular al diagnóstico de enfermedades monogénicas [PDF]
Baiget Bastús, Monserrat
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Padua Days on Muscle and Mobility Medicine, March 25-29, 2025, Hotel Petrarca, Euganean Thermae, Italy: Program and Abstracts. [PDF]
Ravara B +14 more
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Cardiovascular Computed Tomography and Magnetic Resonance Imaging Guideline of the Brazilian Society of Cardiology and the Brazilian College of Radiology - 2024. [PDF]
Magalhães TA +72 more
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Editorial: Distrofia muscular de Duchenne
Alberto Velez van Meerbeke
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Distrofia Muscular de Duchenne: relato de caso
Revista Científica da Faculdade de Medicina de Campos, 2011Introdução: A Distrofia Muscular de Duchenne é a doençaneuromuscular hereditária progressiva mais comum nas duasprimeiras décadas de vida com manifestações clínicas geralmentevistas a partir do segundo ano. É uma doença ligada ao cromossomoX que afeta predominantemente meninos cursando com hipotoniamuscular e fraqueza muscular precoces.
Fernanda Mendonça Moraes +2 more
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Puesta al día en distrofia muscular de Duchenne
Medicina de Familia. SEMERGEN, 2021Duchenne muscular dystrophy, DMD*(ICD-9-C: 359.1; ICD-10-ES: G71.01, ORPHA: 98896) is a dystrophic type, autosomal recessive myopathy linked to the X chromosome, low incidence 1/3300, with full penetrance and multi-organ involvement (neuro-muscular, respiratory, digestive and metabolic). It has great clinical variability.
F. Leiva-Cepas +2 more
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