How guideline development has informed clinical research for organic acidurias (et vice versa).

Forny, Patrick; Hörster, Friederike; Baumgartner, Matthias R; Kölker, Stefan; Boy, Nikolas

Forny, Patrick; Hörster, Friederike; Baumgartner, Matthias R; Kölker, Stefan; Boy, Nikolas.

Afiliación

Forny P; Division of Metabolism and Children's Research Center, University Children's Hospital, University of Zurich, Zurich, Switzerland.
Hörster F; Department of Cell Biology and Physiology, Washington University School of Medicine, St. Louis, Missouri, USA.
Baumgartner MR; Division of Neuropaediatrics and Metabolic Medicine, Department of General Paediatrics, Centre for Child and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany.
Kölker S; Division of Metabolism and Children's Research Center, University Children's Hospital, University of Zurich, Zurich, Switzerland.
Boy N; Division of Neuropaediatrics and Metabolic Medicine, Department of General Paediatrics, Centre for Child and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany.

J Inherit Metab Dis ; 46(3): 520-535, 2023 05.

Article en En | MEDLINE | ID: mdl-36591944

Asunto(s)

Errores Innatos del Metabolismo de los Aminoácidos; Encefalopatías Metabólicas; Enfermedades Metabólicas; Acidemia Propiónica; Recién Nacido; Humanos; Errores Innatos del Metabolismo de los Aminoácidos/diagnóstico; Errores Innatos del Metabolismo de los Aminoácidos/terapia; Errores Innatos del Metabolismo de los Aminoácidos/metabolismo; Encefalopatías Metabólicas/diagnóstico; Acidemia Propiónica/diagnóstico

Palabras clave

glutaric aciduria type 1; guidelines; intoxication-type-inherited metabolic diseases; methylmalonic aciduria; organic aciduria; propionic aciduria; treatment

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Texto completo: 1 Base de datos: MEDLINE Asunto principal: Encefalopatías Metabólicas / Acidemia Propiónica / Errores Innatos del Metabolismo de los Aminoácidos / Enfermedades Metabólicas Tipo de estudio: Diagnostic_studies / Guideline / Observational_studies / Prognostic_studies Límite: Humans / Newborn Idioma: En Revista: J Inherit Metab Dis Año: 2023 Tipo del documento: Article País de afiliación: Suiza

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