Buscar
Mostrando ítems 41-50 de 280
Molecular basis of various forms of maple syrup urine disease in chilean patients
(Wiley, 2021)
Background Maple syrup urine disease (MSUD) is an autosomal recessive inherited metabolic disorder caused by the deficient activity of the branched-chain alpha-keto acid dehydrogenase (BCKD) enzymatic complex. BCKD is a ...
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 ...
Doença de Gaucher: uma desordem subdiagnosticada
(Sociedade de Pediatria de São Paulo, 2011-03-01)
OBJECTIVE: Gaucher disease is an inborn error of metabolism, clinically heterogeneous, whose prognosis may vary according to the presentation subtype. CASE DESCRIPTION: Patient at the age of three years and six months with ...
IDENTIFICATION OF INBORN-ERRORS OF GALACTOSE METABOLISM IN PATIENTS WITH CATARACTS - PRELIMINARY-REPORT
(INST NACIONAL NUTRICION, 1981)
IDENTIFICATION OF INBORN-ERRORS OF GALACTOSE METABOLISM IN PATIENTS WITH CATARACTS - PRELIMINARY-REPORT
(INST NACIONAL NUTRICION, 1981)
Plasma excitatory amino acids in autism
(Universidad del Zulia, 2013)
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 ...