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Molecular analysis of homocystinuria in Brazilian patients
(Elsevier B.V., 2005-12-01)
Background: Cystathionine beta-synthase (CBS) deficiency is the most common cause of homocystinuria. However, no data are available concerning the molecular basis of this disease in Brazilian populations.Methods: We studied ...
Trombose venosa cerebral e homocistinúria: relato de caso
(Academia Brasileira de Neurologia - ABNEURO, 2001-09-01)
Homocystinuria presenting as cerebral venous thrombosis is not usual. We report on a 13-year-old boy who was admitted to the hospital due to severe headache, nausea, vomiting and fever (38ºC). The patient was Marfan like ...
Diagnosis and management of classica homocystinuria in Brazil: a summary of 72 late-diagnosed patients
(Latin American Society Inborn Errors and Neonatal ScreeningInstituto Genética para TodosBrasilSLEIMPNIGPT, 2019)
Spectrum of MMACHC mutations in Italian and Portuguese patients with combined methylmalonic aciduria and homocystinuria, cblC type
(ACADEMIC PRESS INC ELSEVIER SCIENCE, 2008)
Methylmalonic aciduria (MMA) and homocystinuria, cblC type (MIM 277400) is the most frequent inborn error of vitamin B-12. The recent identification of the disease gene, MMACHC, has permitted preliminary genotype-phenotype ...
Homocystinuria, Case ReportHomocistinuria, reporte de un casoHomocistinúria, relato de um caso
(Universidad Militar Nueva Granada, 2020)
The mutation Ala677->Val in the methylene tetrahydrofolate reductase gene: A risk factor for arterial disease and venous thrombosis
(F K Schattauer Verlag GmbhStuttgartAlemanha, 1997)
Estatus de la concentración de homocisteína y de algunos componentes de la fibrinolisis : eslabón trombogénico en la homocistinuria clásica
(Universidad de Antioquia, Facultad de MedicinaMedellín, Colombia, 2022)
Homocystinuria, Case ReportHomocistinuria, reporte de un casoHomocistinúria, relato de um caso
(Universidad Militar Nueva Granada, 2020)
Homocistinuria : casos diagnosticados en Colombia
(Asociación Colombiana de NeurologíaGrupo Académico de Epidemiología ClínicaGrupo de Investigación Clínica en Enfermedades del Niño y del Adolescente - PediacienciasBogotá, Colombia, 2021)