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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Publicat a:Sci Rep
Autors principals: 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
Format: Artigo
Idioma:Inglês
Publicat: Nature Publishing Group UK 2020
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Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC7494896/
https://ncbi.nlm.nih.gov/pubmed/32934269
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41598-020-71248-8
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