Compound heterozygosity for metachromatic leukodystrophy and arylsulfatase A pseudodeficiency alleles is not associated with progressive neurological disease

Several allelic mutations at the arylsulfatase A (ASA) locus cause substantial deficiencies of this lysosomal enzyme. Depending on the genetically determined degree of the deficiency, the clinical outcome may be very different—either metachromatic leukodystrophy (MLD), a lethal lysosomal storage dis...

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Detaylı Bibliyografya
Asıl Yazarlar: Penzien, J. M., Kappler, J., Herschkowitz, N., Schuknecht, B., Leinekugel, P., Propping, P., Tønnesen, T., Lou, H., Moser, H., Zierz, S., Conzelmann, E., Gieselmann, V.
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: 1993
Konular:
Original Articles
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC1682149/
https://ncbi.nlm.nih.gov/pubmed/8095368
Etiketler: Etiketle
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