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.

Afiliación

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 en En | MEDLINE | ID: mdl-32997973

Asunto(s)

Deficiencia de Biotinidasa/diagnóstico; Deficiencia de Biotinidasa/tratamiento farmacológico; Centros de Atención Terciaria; Adolescente; Biotina/uso terapéutico; Deficiencia de Biotinidasa/genética; Deficiencia de Biotinidasa/metabolismo; Niño; Preescolar; Estudios de Asociación Genética; Humanos; Lactante; Líbano; Masculino; Estudios Retrospectivos

Palabras clave

Biotinidase deficiency; C5OH; Hearing loss; Newborn screening

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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Deficiencia de Biotinidasa / Centros de Atención Terciaria Tipo de estudio: Diagnostic_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Límite: Adolescent / Child / Child, preschool / Humans / Infant / Male País/Región como asunto: Asia Idioma: En Revista: Clin Biochem Año: 2020 Tipo del documento: Article País de afiliación: Líbano

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