Diagnosis and management of symptomatic profound biotinidase deficiency in a tertiary care center in Lebanon.

Sayegh, Lea Nicole; Daher, Rose T; Bassyouni, Amina; Karam, Pascale E

Sayegh, Lea Nicole; Daher, Rose T; Bassyouni, Amina; Karam, Pascale E.

Afiliação

Sayegh LN; Faculty of Medicine, American University of Beirut, Beirut, Lebanon.
Daher RT; Department of Pathology and Laboratory Medicine, American University of Beirut Medical Center, Beirut, Lebanon.
Bassyouni A; Inherited Metabolic Diseases Program, Department of Pediatrics and Adolescent Medicine, American University of Beirut Medical Center, Beirut, Lebanon.
Karam PE; Inherited Metabolic Diseases Program, Department of Pediatrics and Adolescent Medicine, American University of Beirut Medical Center, Beirut, Lebanon. Electronic address: pk06@aub.edu.lb.

Clin Biochem ; 86: 52-55, 2020 Dec.

Article em En | MEDLINE | ID: mdl-32997973

Assuntos

Deficiência de Biotinidase/diagnóstico; Deficiência de Biotinidase/tratamento farmacológico; Centros de Atenção Terciária; Adolescente; Biotina/uso terapêutico; Deficiência de Biotinidase/genética; Deficiência de Biotinidase/metabolismo; Criança; Pré-Escolar; Estudos de Associação Genética; Humanos; Lactente; Líbano; Masculino; Estudos Retrospectivos

Palavras-chave

Biotinidase deficiency; C5OH; Hearing loss; Newborn screening

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Diagnostic_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Adolescent / Child / Child, preschool / Humans / Infant / Male País/Região como assunto: Asia Idioma: En Ano de publicação: 2020 Tipo de documento: Article

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