Caricamento...
Dysarthria and Stutter as Presenting Symptoms of Late‐Onset Tay‐Sachs Disease in Three Siblings
Late‐onset Tay‐Sachs disease (LOTS) is a rare autosomal‐recessive genetic disorder caused by insufficient activity of the lysosomal enzyme, beta‐hexosaminidase A, resulting in intracellular accumulation of gangliosides in the central nervous system. Clinical manifestations can include unsteadiness i...
Salvato in:
| Pubblicato in: | Mov Disord Clin Pract |
|---|---|
| Autori principali: | , , |
| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
John Wiley and Sons Inc.
2015
|
| Soggetti: | |
| Accesso online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6178690/ https://ncbi.nlm.nih.gov/pubmed/30363497 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mdc3.12194 |
| Tags: |
Aggiungi Tag
Nessun Tag, puoi essere il primo ad aggiungerne! !
|