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Potential diagnostic assay for cystinuria by capillary electrophoresis coupled to mass spectrometry
(Sociedade Brasileira de Química, 2013-04-01)
Cystinuria is an autosomal recessive genetic disorder characterized by abnormal intestinal and renal tubular transport of L-cystine as well as of L-lysine, L-arginine and L-ornithine. This leads to excessive urinary excretion ...
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 ...
Estudo de funções tubulares em pacientes com tubulopatias congênitas
(Universidade Federal de São Paulo (UNIFESP), 1997)
Estudamos 32 criancas com tubulopatias congenitas, 16 com sindrome de Fanconi, 7 com sindrome de Bartter e 9 com acidose tubular renal distal. Avaliamos os dados de historia e exame fisico, por ocasiao do diagnostico e ...
Aspectos clínicos da fenilcetonúria em serviço de referência em triagem neonatal da Bahia
(2005)
OBJETIVOS: descrever as características clínicas dos pacientes com hiperfenilalaninemia acompanhados no Serviço de Referência em Triagem Neonatal (SRTN) do estado da Bahia.
MÉTODOS: estudo descritivo transversal, tendo ...
Presenting signs and patient co-variables in Gaucher disease: outcome of the Gaucher Earlier Diagnosis Consensus (GED-C) Delphi initiative
(Wiley Blackwell Publishing, Inc, 2019-05)
Background: Gaucher disease (GD) presents with a range of signs and symptoms. Physicians can fail to recognise the early stages of GD owing to a lack of disease awareness, which can lead to significant diagnostic delays ...
Problems in implementing newborn screening in Costa Rica
(1987)
In Costa Rica, concern for public education early in this century, together with specific public health actions in the early 1970's, have resulted in fairly good control of infectious and nutritional diseases. As a ...
Problems in implementing newborn screening in Costa Rica
(1987)
In Costa Rica, concern for public education early in this century, together with specific public health actions in the early 1970's, have resulted in fairly good control of infectious and nutritional diseases. As a ...
Aspectos neuropsicológicos e comportamentais associados à Doença de Gaucher tipo 1: relato de uma série de casos
(Universidade Federal de São Paulo (UNIFESP), 2015-09-18)
Gaucher disease type I - (DG) is an inborn error of metabolism (IEM), incidenting the group of lysosomal diseases (DL), which is caused by mutation in the gene of acid beta-glucosidase (GBA) which determines disability of ...