A Case of Biotinidase Deficiency Presenting as Quadriparesis.
Artigo
em Inglês
| IMSEAR
| ID: sea-182886
ABSTRACT
Biotinidase deficiency is a rare disorder with a wide-spectrum of neurological, dermatological, and immunological dysfunction. Identification of this disorder is important as it is easily treatable and the patients show dramatic response to therapy, besides the fact that it can prove fatal if not diagnosed. We report a case of biotinidase deficiency who presented with quadriparesis, highlighting all these issues.
Texto completo:
DisponíveL
Índice:
IMSEAR (Sudeste Asiático)
Idioma:
Inglês
Ano de publicação:
2013
Tipo de documento:
Artigo
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