[Recent advances in inborn errors of metabolism]. / Recentes avanços em erros inatos do metabolismo.
Arq Neuropsiquiatr
; 45(2): 177-87, 1987 Jun.
Article
en Pt
| MEDLINE
| ID: mdl-3322240
Four aspects of advances in inborn errors of metabolism (IEM) are analysed: 1) concerning the general comprehension of the pathogenesis, genic localization and genetic heterogeneity; 2) clinical aspects, with description of new variants of known IEM or new IEM; 3) laboratory diagnostic tests presently used in our country: dosage of some genetic markers (arylsulfatases, hexosaminidases, beta-glycosidase; beta-galactosidase and sphingomyelinase), newborn populational screening (for hyperphenylalaninemia, and hypothyroidism), heterozygote detection (for Tay-Sachs disease) and also some prenatal diagnosis; 4) therapeutic aspects presenting substitutive treatment, special diets, plasmapheresis and leukapheresis. The first results of 4 cases of mucopolysaccharidosis treated with the last technic are presented.
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Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Errores Innatos del Metabolismo
Tipo de estudio:
Diagnostic_studies
Límite:
Humans
Idioma:
Pt
Revista:
Arq Neuropsiquiatr
Año:
1987
Tipo del documento:
Article
Pais de publicación:
Alemania