Caricamento...
Infantile Type Sandhoff Disease with Striking Brain MRI Findings and a Novel Mutation
BACKGROUND: Sandhoff disease is an autosomal recessive disorder caused by β-hexosaminidase deficiency in which the ganglioside GM2 and other glycolipids accumulate intracellularly within lysosomes. This process results in progressive motor neuron manifestations, death from respiratory failure and in...
Salvato in:
| Pubblicato in: | Pol J Radiol |
|---|---|
| Autori principali: | , , , , |
| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
International Scientific Literature, Inc.
2016
|
| Soggetti: | |
| Accesso online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4780271/ https://ncbi.nlm.nih.gov/pubmed/26985245 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.12659/PJR.895911 |
| Tags: |
Aggiungi Tag
Nessun Tag, puoi essere il primo ad aggiungerne! !
|