Bi‐allelic VPS16 variants limit HOPS/CORVET levels and cause a mucopolysaccharidosis‐like disease

Lysosomal storage diseases, including mucopolysaccharidoses, result from genetic defects that impair lysosomal catabolism. Here, we describe two patients from two independent families presenting with progressive psychomotor regression, delayed myelination, brain atrophy, neutropenia, skeletal abnorm...

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Detalles Bibliográficos
Autores principales: Sofou, Kalliopi, Meier, Kolja, Sanderson, Leslie E, Kaminski, Debora, Montoliu‐Gaya, Laia, Samuelsson, Emma, Blomqvist, Maria, Agholme, Lotta, Gärtner, Jutta, Mühlhausen, Chris, Darin, Niklas, Barakat, Tahsin Stefan, Schlotawa, Lars, van Ham, Tjakko, Asin Cayuela, Jorge, Sterky, Fredrik H
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2021
Materias:
Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8103096/
https://www.ncbi.nlm.nih.gov/pubmed/33938619
http://dx.doi.org/10.15252/emmm.202013376

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8103096/
https://www.ncbi.nlm.nih.gov/pubmed/33938619
http://dx.doi.org/10.15252/emmm.202013376

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