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

L Chkioua, H El Fissi, Y Amri, C Sahli, F Bouzid… - BMC genomics, 2024‏ - Springer
Background Mucopolysaccharidosis type I is a lysosomal storage disease resulting from a
deficiency in alpha-L-iduronidase (IDUA), which causes the accumulation of partially …

The mutational spectrum of hunter syndrome reveals correlation between biochemical and clinical profiles in Tunisian patients

L Chkioua, O Grissa, N Leban, M Gribaa… - BMC Medical …, 2020‏ - Springer
Abstract Background Mucopolysaccharidosis type II (MPS II) or Hunter syndrome is an X-
linked recessive lysosomal storage disorder resulting from deficient activity of iduronate 2 …

[PDF][PDF] Genetics of Mucopolysaccharidosis Type IV (Morquio Disorder) in Patients from Azerbaijan

AS Aydin, AKA Agha, MS Aftandil, REM Rasul - Òîì 7‏ - dspace.uzhnu.edu.ua
Materials and methods. Material for studies was collected in the specialized children
medical centers in Baku city, Azerbaijan, as well as in the field works in the regions of the …

Molecular Characterization of the IDUA Gene: Identification of a Haplotype associated with the p. P533R Mutation in the Maghreb Population

L Chkioua, H El Fissi, Y Amri, C Saheli, F Bouzid… - 2023‏ - researchsquare.com
Molecular Characterization of the IDUA Gene: Identification of a Haplotype associated with the
p.P533R Mutation in the Maghreb P Page 1 Page 1/20 Molecular Characterization of the …

БЮЛЛЕТЕНЬ НАУКИ И ПРАКТИКИ

СА АЛИЗАДЕ, КА АЛИЕВА… - … НАУКИ И ПРАКТИКИ …, 2022‏ - elibrary.ru
Во время экспедиционных работ по выявлению больных с мукополисахаридозом в
одном из регионов Азербайджанской Республики при клиническом обследовании …

[PDF][PDF] The mutational spectrum of Hunter syndrome reveals correlation between biochemical and clinical pro les in Tunisian patients

O Grissa, N Leban, M Gribaa, H Boudabous, HB Turkia…‏ - scholar.archive.org
Abstract Background: Mucopolysaccharidosis type II (MPS II) or Hunter syndrome is an X-
linked recessive lysosomal storage disorder resulting from de cient activity of iduronate 2 …

[PDF][PDF] Mutational Analysis of Mucopolysaccharidosis in Iranian Patients

SH Saberi, S Farshidi, B Kamalidehghan… - Zahedan Journal of …, 2021‏ - academia.edu
Mucopolysaccharidosis (MPS) is a rare and heterogeneous metabolic disorder with wide
phenotypic distributions throughout the world. This study aimed to determine the genetic …

The mutational spectrum of Hunter syndrome reveals correlation between biochemical and clinical profiles in Tunisian patients

O Grissa, N Leban, M Gribaa, H Boudabous, HB Turkia… - 2020‏ - researchsquare.com
Background: Mucopolysaccharidosis type II (MPS II) or Hunter syndrome is an X-linked
recessive lysosomal storage disorder resulting from deficient activity of iduronate 2-sulfatase …