Expert consensus on screening, diagnosis and treatment of multiple carboxylase deficiency.

Division of Biochemistry and Metabolism, Medical Genetics Branch, Chinese Medical Association; Division of Genetics and Metabolism, Child Diseases and Health Care Branch, Chinese Association for Maternal and Child Health; Division of Genetics and Metabolism, Rare Diseases Committee of Beijing Medical Association

Division of Biochemistry and Metabolism, Medical Genetics Branch, Chinese Medical Association; Division of Genetics and Metabolism, Child Diseases and Health Care Branch, Chinese Association for Maternal and Child Health; Division of Genetics and Metabolism, Rare Diseases Committee of Beijing Medical Association.

Zhejiang Da Xue Xue Bao Yi Xue Ban ; 51(1): 129-135, 2022 02 25.

Article en En | MEDLINE | ID: mdl-35576117

Asunto(s)

Deficiencia de Biotinidasa; Ligasas de Carbono-Nitrógeno; Deficiencia de Holocarboxilasa Sintetasa; Deficiencia Múltiple de Carboxilasa; Biotina/metabolismo; Biotina/uso terapéutico; Deficiencia de Biotinidasa/tratamiento farmacológico; Deficiencia de Biotinidasa/terapia; Ligasas de Carbono-Nitrógeno/genética; Ligasas de Carbono-Nitrógeno/metabolismo; Consenso; Deficiencia de Holocarboxilasa Sintetasa/tratamiento farmacológico; Deficiencia de Holocarboxilasa Sintetasa/genética; Humanos; Recién Nacido; Deficiencia Múltiple de Carboxilasa/tratamiento farmacológico; Tamizaje Neonatal

Palabras clave

Biotinidase deficiency; Diagnosis and treatment; Expert consensus; Holocarboxylase synthetase deficiency; Multiple carboxylase deficiency; Neonatal screening

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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Deficiencia Múltiple de Carboxilasa / Ligasas de Carbono-Nitrógeno / Deficiencia de Biotinidasa / Deficiencia de Holocarboxilasa Sintetasa Tipo de estudio: Diagnostic_studies / Guideline / Screening_studies Límite: Humans / Newborn Idioma: En Revista: Zhejiang Da Xue Xue Bao Yi Xue Ban Asunto de la revista: MEDICINA Año: 2022 Tipo del documento: Article

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