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Autor:
Gul, Rutaba, Firasat, Sabika, Schubert, Mikkel, Ullah, Asmat, Peña, Elionora, Thuesen, Anne C.B., Hussain, Mulazim, Staeger, Frederik F., Gjesing, Anette P., Albrechtsen, Anders, Hansen, Torben
Publikováno v:
Gul, R, Firasat, S, Schubert, M, Ullah, A, Peña, E, Thuesen, A C B, Hussain, M, Staeger, F F, Gjesing, A P, Albrechtsen, A & Hansen, T 2023, ' Identifying the genetic causes of phenotypically diagnosed Pakistani mucopolysaccharidoses patients by whole genome sequencing ', Frontiers in Genetics, vol. 14, 1128850 . https://doi.org/10.3389/fgene.2023.1128850
Background: Lysosomal storage disorders (LSDs) are a group of inherited metabolic diseases, which encompass more than 50 different subtypes of pathologies. These disorders are caused by defects in lysosomal enzymes, transporters, and other non-lysoso