Now showing items 1-10 of 129
Biopsia en los errores innatos del metabolismoBiopsy in inborn errors of metabolism
(Instituto Nacional de Pediatría, 2010)
Detection of metabolic disorders in high-risk patients: a pilot study in Salvador, Bahia
(Associa????o Arquivos de Neuro-Psiquiatria Dr. Oswaldo Lange, 1997)
Evaluation of oxidative stress markers and cardiovascular risk factors in Fabry Disease patients
(Sociedade Brasileira de Genética, 2012-01-01)
Fabry Disease, an X-linked inborn error of metabolism, is characterized by progressive renal insufficiency, with cardio and cerebrovascular involvement. Homocysteine (Hcy) is considered a risk factor for vascular diseases, ...
De la disrupción en el metabolismo del triptófano a la complejidad clínica de la enfermedad de Hartnup
(Universidad Autónoma del Estado de México, 2016)
Inborn errors of metabolism: a clinical overview
(Associação Paulista de Medicina - APM, 1999-11-04)
CONTEXT: Inborn errors of metabolism cause hereditary metabolic diseases (HMD) and classically they result from the lack of activity of one or more specific enzymes or defects in the transportation of proteins. OBJECTIVES: ...
Animal models of intellectual disability: towards a translational approach
(Faculdade de Medicina / USP, 2011-01-01)
Intellectual disability is a prevalent form of cognitive impairment, affecting 2-3% of the general population. It is a daunting societal problem characterized by significant limitations both in intellectual functioning and ...