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Akademický článek

Mucopolysaccharidosis type I: founder effect of the p.P533R mutation in North Africa

Autor: Latifa Chkioua, Houda El Fissi, Yessine Amri, Chayma Sahli, Fadoua Bouzid, Hela Boudabous, Neji Tbib, Salima Ferchichi, Taieb Massoud, Najat Alif, Sandrine Laradi, Hassen Ben Abdennebi

Publikováno v: BMC Genomics, Vol 25, Iss 1, Pp 1-9 (2024)

Abstract Background Mucopolysaccharidosis type I is a lysosomal storage disease resulting from a deficiency in alpha-L-iduronidase (IDUA), which causes the accumulation of partially degraded dermatan sulfate and heparan sulfate. This retrospective st

Externí odkaz: https://doaj.org/article/15bce9b578064770b9c19476d24d775b

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Akademický článek

Quantification of glycosaminoglycans using harmine extract from Peganum harmala L. in mucopolysaccharidoses researches

Autor: Houda El Fissi, Fadoua Bouzid, Ikram Achqra, Mohammed Said Sebbar, Fouad Msanda, Mohamed Amine Serghini, Najat Alif

Publikováno v: Biomedical and Biotechnology Research Journal, Vol 8, Iss 1, Pp 124-128 (2024)

Background: Harmine is used in the quantification of glycosaminoglycans (GAGs) for the research on mucopolysaccharidoses (MPSs). Although this product is commercially available, researchers may consider preparing it under laboratory conditions when i

Externí odkaz: https://doaj.org/article/1ba0b5bad1494c7fb20e55183d06e858

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