Clinical characteristics of primary carnitine deficiency: A structured review using a case-by-case approach.

Crefcoeur, Loek L; Visser, Gepke; Ferdinandusse, Sacha; Wijburg, Frits A; Langeveld, Mirjam; Sjouke, Barbara

Crefcoeur, Loek L; Visser, Gepke; Ferdinandusse, Sacha; Wijburg, Frits A; Langeveld, Mirjam; Sjouke, Barbara.

Afiliación

Crefcoeur LL; Department of Metabolic Diseases, Wilhelmina Children's Hospital, University Medical Center Utrecht, Utrecht, The Netherlands.
Visser G; Laboratory Genetic Metabolic Diseases, Amsterdam UMC location Academic Medical Center, University of Amsterdam, Amsterdam Gastroenterology and Metabolism, Amsterdam, The Netherlands.
Ferdinandusse S; Department of Metabolic Diseases, Wilhelmina Children's Hospital, University Medical Center Utrecht, Utrecht, The Netherlands.
Wijburg FA; Laboratory Genetic Metabolic Diseases, Amsterdam UMC location Academic Medical Center, University of Amsterdam, Amsterdam Gastroenterology and Metabolism, Amsterdam, The Netherlands.
Langeveld M; Laboratory Genetic Metabolic Diseases, Amsterdam UMC location Academic Medical Center, University of Amsterdam, Amsterdam Gastroenterology and Metabolism, Amsterdam, The Netherlands.
Sjouke B; Emma's Children's Hospital, Amsterdam UMC location Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.

J Inherit Metab Dis ; 45(3): 386-405, 2022 05.

Article en En | MEDLINE | ID: mdl-34997761

Asunto(s)

Cardiomiopatías; Hiperamonemia; Enfermedades Musculares; Cardiomiopatías/complicaciones; Cardiomiopatías/diagnóstico; Cardiomiopatías/genética; Carnitina/deficiencia; Carnitina/metabolismo; Preescolar; Humanos; Hiperamonemia/complicaciones; Hiperamonemia/diagnóstico; Hiperamonemia/genética; Recién Nacido; Enfermedades Musculares/complicaciones; Enfermedades Musculares/diagnóstico; Enfermedades Musculares/genética; Tamizaje Neonatal/métodos; Miembro 5 de la Familia 22 de Transportadores de Solutos/genética

Palabras clave

carnitine; clinical characteristics; organic cation transporter novel 2; phenotyping; primary carnitine deficiency; screening

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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Hiperamonemia / Enfermedades Musculares / Cardiomiopatías Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Child, preschool / Humans / Newborn Idioma: En Revista: J Inherit Metab Dis Año: 2022 Tipo del documento: Article País de afiliación: Países Bajos

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