[Recent advances in inborn errors of metabolism].

Abstract:

: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.

journal_name

Arq Neuropsiquiatr

authors

Diament AJ

doi

10.1590/s0004-282x1987000200011

subject

Has Abstract

pub_date

1987-06-01 00:00:00

pages

177-87

issue

2

eissn

0004-282X

issn

1678-4227

journal_volume

45

pub_type

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  • [Sacral agenesis associated with a teratoma].

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    authors: Borges AC,Festugato RR,de Cerqueira JC,de Souza MR

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  • [Meningomyeloradiculitis caused by Schistosoma mansoni. Research protocol and report of 21 cases].

    abstract::Twenty one cases of schistosomal meningomyeloradiculopathy due to Schistosoma mansoni are reported. This result was attained after a 4- year research period based on a "Clinical and Laboratory Investigation Protocol" applied on 212 patients in Itabuna, a city of Southeast region of Bahia state in the Northeast of Braz...

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  • [Ventriculoperitoneal shunt infections in children and adolescents with hydrocephalus].

    abstract:OBJECTIVE:To determine frequency, etiology, site and clinical and laboratory findings of ventriculoperitoneal shunt (VPS) infections in children and adolescents with hydrocephalus managed in Hospital Governador João Alves Filho, Aracaju SE, Brazil. METHOD:A non-controlled prospective observational study comprising 50 ...

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    更新日期:2007-03-01 00:00:00

  • Neurological evaluation of neonates with intraventricular and periventricular hemorrhage.

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  • Clinical and epidemiological profile of patients diagnosed with multiple sclerosis in João Pessoa, Paraíba, Brazil.

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  • [Behavior problems in patients with dementia. The impact on the career life].

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    pub_type: 历史文章,杂志文章

    doi:10.1590/s0004-282x2011000400028

    authors: Gomes Mda M

    更新日期:2011-06-01 00:00:00