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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: ...
Investigação diagnóstica de erros inatos do metabolismo em um hospital universitário
(Sociedade Brasileira de Patologia ClínicaSociedade Brasileira de PatologiaSociedade Brasileira de Citopatologia, 2007-06-01)
OBJETIVOS: Estabelecer a freqüência de erros inatos do metabolismo (EIMs) em uma amostra de pacientes com hipótese diagnóstica de EIM proveniente do Hospital das Clínicas da Faculdade de Medicina de Botucatu da Universidade ...
Prevalence of obstructive sleep apnea in patients with mucopolysaccharidosis types I, II, and VI in a reference center
(Springer, 2014-12-01)
Mucopolysaccharidosis (MPS) encompasses a group of rare lysosomal storage disorders that are associated with the accumulation of glycosaminoglycans in organs and tissues. Respiratory disorders occur in all MPS types. in ...
Steatosis of indeterminate cause in a pediatric group: is it a primary mitochondrial hepatopathy?
(Associação Paulista de Medicina (APM), 2011-01-01)
CONTEXTO E OBJETIVO: em crianças, a esteatose hepática pode se relacionar a erros inatos do metabolismo (EIMs) ou à doença hepática gordurosa não-alcoólica (DHGNA). O objetivo deste estudo foi avaliar e caracterizar esteatose ...
Clinical and biochemical study of 28 patients with mucopolysaccharidosis type VI
(Blackwell Munksgaard, 2004-09-01)
This paper presents data collected by a Brazilian center in a multinational multicenter observational study of patients with mucopolysaccharidosis type VI (MPS VI), aiming at determining the epidemiological, clinical, and ...
Enzyme replacement therapy for Anderson-Fabry disease.
(2013-04-03)
Anderson-Fabry disease is an X-linked defect of glycosphingolipid metabolism. Progressive renal insufficiency is a major source of morbidity, additional complications result from cardio- and cerebro-vascular involvement. ...
Diagnosis of Smith-Lemli-Opitz syndrome by ultraviolet spectrophotometry
(Associação Brasileira de Divulgação Científica (ABRADIC), 2003-10-01)
Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive disorder due to an inborn error of cholesterol metabolism, characterized by congenital malformations, dysmorphism of multiple organs, mental retardation and delayed ...
Serum Albumin Is an Independent Predictor of Clinical Outcomes in Critically Ill Children
(Lippincott Williams & Wilkins, 2016)
Objectives: Serum albumin is a strong biomarker of disease severity and prognosis in adult patients. In contrast, its value as predictor of outcome in critically ill children has not been established. We aimed to determine ...
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 ...