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Diagnóstico y seguimiento de 23 niños con acidurias orgánicas
(Sociedad Médica de Santiago, 2002)
Dificuldades no diagnostico e manejo da acidemia metilmalônica - relato de caso sugestivoDifficulties in diagnosis and treatment of methylmalonic aciduria - suggestive case report
(Sociedade de Pediatria do Estado do Rio de Janeiro, 2015)
Spondylocostal Dysostosis Associated with Methylmalonic Aciduria
(MARY ANN LIEBERT INC, 2009)
Spondylocostal dysostosis (SCD) is a genetic disorder characterized by vertebral segmentation and formation defects associated with changes of the ribs. Autosomal dominant and recessive modes of inheritance have been ...
Identification of novel L2HGDH gene mutations and update of the pathological spectrum
(NATURE PUBLISHING GROUP, 2010)
L-2-hydroxyglutaric aciduria (L-2-HGA, MIM 236792) is a neurometabolic disorder caused by the toxic accumulation of high concentration of L-2-hydroxyglutaric acid in plasma and cerebrospinal fluid. Distinct mutations on ...
Acidemia propiónica neonatal con deterioro neurológico, rechazo al alimento y emesis reporte de caso y revisión de la literatura
(Sociedad de Cirugía de Bogotá, Hospital de San José y Fundación Universitaria de Ciencias de la Salud, 2012-12-01)
Acidemia Metilmalónica: presentación de un caso y revisión de la literatura científica
(Universidad Militar Nueva Granada, 2014)
Avaliação e adequação de receitas com restrição proteica, postadas em redes sociais para pacientes com erros inatos do metabolismo
(Universidade Federal de São Paulo, 2022)
Os Erros Inatos do Metabolismo (EIM) causam as doenças metabólicas hereditárias (DMH) que resultam da falta de atividade de uma ou mais enzima ou defeito no transporte de proteínas. As doenças de interesse neste estudo são ...