Alpha-locus hexosaminidase genetic compound with juvenile gangliosidosis phenotype: clinical, genetic, and biochemical studies.

A 3-year-old boy developed progressive neurological deterioration in his third year, characterized by dementia, ataxia, myoclonic jerks, and bilateral macular cherry-red spots. Hexosaminidase A (HEX A) was partially decreased in the patient's serum, leukocytes, and cultured skin fibroblasts. He...

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Detaylı Bibliyografya
Asıl Yazarlar: Johnson, W G, Cohen, C S, Miranda, A F, Waran, S P, Chutorian, A M
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: 1980
Konular:
Research Article
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC1686138/
https://ncbi.nlm.nih.gov/pubmed/6772023
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