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https://repositorio.ufba.br/handle/ri/5826
metadata.dc.type: | Artigo de Periódico |
Título : | Detection of metabolic disorders in high-risk patients: a pilot study in Salvador, Bahia |
Otros títulos : | Arq Neuropsiquiatr |
Autor : | Pereira, Maria Betânia Conceição, Gildásio Carvalho da Coelho, Janice C. Wajner, Moacir Giugliani, Roberto |
metadata.dc.creator: | Pereira, Maria Betânia Conceição, Gildásio Carvalho da Coelho, Janice C. Wajner, Moacir Giugliani, Roberto |
Resumen : | The purpose of this pilot-study was to evaluate the applicability of a screening protocol for the detection of inborn errors of metabolism (IEM) in high-risk patients. The protocol was applied in 65 patients referred to the Medical Genetics Laboratory of the University Hospital Professor Edgard Santos due to the suspicion of na IEM. Eight of these patients (12.3%) displayed an abnormal result in the screening protocol. These patients, along with 22 who displayed normal results in the screening protocol but who presented clinical symptoms or signs suggestive of an IEM not detectable by the tests applied, were selected for a further diagnostic investigation. In 5 of these 30 patients (7.7% of the total sample) it was possible to establish the diagnosis of an specific IEM. The results indicate that the designed screening protocol was sucessfully applied, allowing the detection of affected patients in a frequency comparable to that observed in larger studies performed elsewhere. The continuation of this study and the enlargement of the sample will help to delineate the profile of IEM in northeast of Brazil and will allow the identification of a significative number of patients and families, who could benefit from the therapeutic and preventive measures available for these diseases. |
Palabras clave : | Mental deficiency Inborn errors of metabolism Metabolic disorders Amino acid disorders Lysosomal disorders |
Editorial : | Associação Arquivos de Neuro-Psiquiatria Dr. Oswaldo Lange |
URI : | http://www.repositorio.ufba.br/ri/handle/ri/5826 |
Fecha de publicación : | 1997 |
Aparece en las colecciones: | Artigo Publicado em Periódico (Faculdade de Medicina) |
Ficheros en este ítem:
Fichero | Descripción | Tamaño | Formato | |
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Pereira, Maria Betânia.pdf | 406,5 kB | Adobe PDF | Visualizar/Abrir |
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