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Juvenile GM2 gangliosidosis (AMB variant): inability to activate hexosaminidase A by activator protein.

Two sibling from a consanguineous Puerto Rican marriage were found to have a juvenile-onset type of lipidosis first noted at age 2 1/2 by expressing difficulties with motor function and developmental delay. They continued to deteriorate, showing muscle atrophy, spasticity, and loss of speech, and de...

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Hlavní autoři: Inui, K, Grebner, E E, Jackson, L G, Wenger, D A
Médium: Artigo
Jazyk:Inglês
Vydáno: 1983
Témata:
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC1685728/
https://ncbi.nlm.nih.gov/pubmed/6224417
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