Article
Mucopolysaccharidosis-Plus Syndrome: Report on a Polish Patient with a Novel VPS33A Variant with Comparison with Other Described Patients.
International journal of molecular sciences - 28 Sept 2022
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
Abstract excerpt
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 detected. Here, we describe the first Polish MPS-PS patient with a novel homozygous c.599G>C (p.Arg200Pro) VPS33A...
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