Sulfatide Analysis by Mass Spectrometry for Screening of Metachromatic Leukodystrophy in Dried Blood and Urine Samples

BACKGROUND: Metachromatic leukodystrophy (MLD) is an autosomal recessive disorder caused by deficiency in arylsulfatase A activity, leading to accumulation of sulfatide substrates. Diagnostic and monitoring procedures include demonstration of reduced arylsulfatase A activity in peripheral blood leuk...

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Gorde:
Xehetasun bibliografikoak
Argitaratua izan da:Clin Chem
Egile Nagusiak: Spacil, Zdenek, Kumar, Arun Babu, Liao, Hsuan-Chieh, Auray-Blais, Christiane, Stark, Samantha, Suhr, Teryn R., Scott, C. Ronald, Turecek, Frantisek, Gelb, Michael H.
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: 2015
Gaiak:
Article
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC4737087/
https://ncbi.nlm.nih.gov/pubmed/26585924
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1373/clinchem.2015.245159
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