Biochemical and Genetic Analysis of Seven Korean Individuals With Suspected Metachromatic Leukodystrophy

Metachromatic leukodystrophy (MLD) is an autosomal recessive disease caused by a deficiency in arylsulfatase A (ARSA). However, decreased ARSA activity is also observed in pseudodeficiency (PD). To distinguish between MLD and PD, we performed gene mutation and sulfatide analyses by using dried blood...

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Enregistré dans:
Détails bibliographiques
Publié dans:Ann Lab Med
Auteurs principaux: Han, Minje, Jun, Sun-Hee, Lee, Yun-Jin, Eun, Baik-Lin, Lee, Seung Jun, Seong, Moon-Woo, Park, Sung Sup, Song, Sang Hoon, Park, Hyung-Doo, Song, Junghan
Format: Artigo
Langue:Inglês
Publié: The Korean Society for Laboratory Medicine 2015
Sujets:
Brief Communication
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC4446587/
https://ncbi.nlm.nih.gov/pubmed/26131420
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3343/alm.2015.35.4.458
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