Macro-AST: misleading finding in an adolescent with MCAD-deficiency

BACKGROUND: MCAD-deficiency is the most common inborn error of fatty acid oxidation now included in many newborn screening programms using MS/MS. During prolonged catabolic episodes, patients may suffer from metabolic decompensation with dysfunction of liver, skeletal- and heart muscle as well as br...

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Detalles Bibliográficos
Autores principales: Das, Anibh M, Drache, Sabine, Janzen, Nils, Franke, Andreas
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2012
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3503801/
https://www.ncbi.nlm.nih.gov/pubmed/22935320
http://dx.doi.org/10.1186/1471-230X-12-119

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3503801/
https://www.ncbi.nlm.nih.gov/pubmed/22935320
http://dx.doi.org/10.1186/1471-230X-12-119

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