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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...
Αποθηκεύτηκε σε:
| Τόπος έκδοσης: | Ann Lab Med |
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| Κύριοι συγγραφείς: | , , , , , , , , , |
| Μορφή: | Artigo |
| Γλώσσα: | Inglês |
| Έκδοση: |
The Korean Society for Laboratory Medicine
2015
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| Θέματα: | |
| Διαθέσιμο Online: | 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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