Defining diagnostic cutoffs in neurological patients for serum very long chain fatty acids (VLCFA) in genetically confirmed X-Adrenoleukodystrophy

X-linked Adrenoleukodystrophy (X-ALD) is caused by mutations in the ABCD1 gene resulting in the accumulation of very long chain fatty acids (VLCFA). X-ALD is the most common peroxisomal disorder with adult patients (male and female) presenting with progressive spastic paraparesis with bladder distur...

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Detalles Bibliográficos
Autores principales: Rattay, Tim W., Rautenberg, Maren, Söhn, Anne S., Hengel, Holger, Traschütz, Andreas, Röben, Benjamin, Hayer, Stefanie N., Schüle, Rebecca, Wiethoff, Sarah, Zeltner, Lena, Haack, Tobias B., Cegan, Alexander, Schöls, Ludger, Schleicher, Erwin, Peter, Andreas
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2020
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7494896/
https://www.ncbi.nlm.nih.gov/pubmed/32934269
http://dx.doi.org/10.1038/s41598-020-71248-8

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7494896/
https://www.ncbi.nlm.nih.gov/pubmed/32934269
http://dx.doi.org/10.1038/s41598-020-71248-8

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