Mucopolysaccharidosis-Plus Syndrome: Report on a Polish Patient with a Novel VPS33A Variant with Comparison with Other Described Patients

Eleven patients from Yakutia with a new lysosomal disease assumed then as mucopolysaccharidosis-plus syndrome (MPS-PS) were reported by Gurinova et al. in 2014. Up to now, a total number of 39 patients have been reported; in all of them, the c.1492C>T (p.Arg498Trp) variant of the VPS33A gene was...

Descripción completa

Detalles Bibliográficos
Autores principales: Lipiński, Patryk, Szczałuba, Krzysztof, Buda, Piotr, Zakharova, Ekaterina Y., Baydakova, Galina, Ługowska, Agnieszka, Różdzyńska-Świątkowska, Agnieszka, Cyske, Zuzanna, Węgrzyn, Grzegorz, Pollak, Agnieszka, Płoski, Rafał, Tylki-Szymańska, Anna
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9570340/
https://www.ncbi.nlm.nih.gov/pubmed/36232726
http://dx.doi.org/10.3390/ijms231911424

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9570340/
https://www.ncbi.nlm.nih.gov/pubmed/36232726
http://dx.doi.org/10.3390/ijms231911424

Ejemplares similares