Very long‐chain acyl‐CoA dehydrogenase deficiency in a Swedish cohort: Clinical symptoms, newborn screening, enzyme activity, and genetics

Very long‐chain acyl‐CoA dehydrogenase deficiency (VLCADD) is a recessive disorder of fatty acid beta‐oxidation with variable phenotype. Patients may present during the neonatal period with lethal multi‐organ failure or during adulthood with a myopathic phenotype. VLCADD is included in the Swedish n...

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Detalles Bibliográficos
Autores principales: Olsson, David, Barbaro, Michela, Haglind, Charlotte, Halldin, Maria, Lajic, Svetlana, Tucci, Sara, Zetterström, Rolf H., Nordenström, Anna
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2022
Materias:
Research Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8898720/
https://www.ncbi.nlm.nih.gov/pubmed/35281659
http://dx.doi.org/10.1002/jmd2.12268

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8898720/
https://www.ncbi.nlm.nih.gov/pubmed/35281659
http://dx.doi.org/10.1002/jmd2.12268

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