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Desenvolvimento e Implantação de ferramenta digital facilitadora do tratamento de pacientes brasileiros com Fenilcetonúria - PKU
(Universidade Estadual Paulista (Unesp), 2021-11-05)
A Fenilcetonúria (PKU) é um erro inato do metabolismo de aminoácidos que resulta de mutações do gene que codifica a produção da enzima fenilalanina hidroxilase, responsável pelo catabolismo da fenilalanina (Phe). Sua ...
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 ...
Búsqueda de afecciones genéticas como etiología de déficit intelectual en individuos que asisten a escuelas de educación especial
(SOC MEDICA SANTIAGO, 2008-12)
Mental retardation or intellectual disability affects 2%
of the general population, but in 60% to 70% of cases the real cause of this retardation is not known.
An early etiologic diagnosis of intellectual disability can ...
Neuroimaging Evolution in a Patient With Type 1 Glutaric Aciduria in Treatment Since 7 Months of Age
Introduction: Glutaric aciduria type 1 is a leukodystrophy. The MRI features can be characteristic and help to establish an early diagnosis. Objectives: A clinical and IRM correlation is performed chronologically after the ...
Acidemia Metilmalónica: presentación de un caso y revisión de la literatura científica
(Universidad Militar Nueva Granada, 2014)