Clinical and Molecular Characterization of Patients with Mucopolysaccharidosis Type I in an Algerian Series

Abstract

Mucopolysaccharidoses (MPS's) represent a subgroup of lysosomal storage diseases related to a deficiency of enzymes that catalyze glycosaminoglycans degradation. Mucopolysaccharidosis type I (MPS I) is a rare autosomal recessive disorder caused by a deficiency of α-l-iduronidase encoded by the IDUA gene. Partially degraded heparan sulfate and dermatan… (More)
DOI: 10.3390/ijms17050743

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@inproceedings{Tebani2016ClinicalAM, title={Clinical and Molecular Characterization of Patients with Mucopolysaccharidosis Type I in an Algerian Series}, author={Abdellah Tebani and Lahouaria Zanoutene-Cheriet and Zoubir Adjtoutah and L{\'e}naig Abily-Donval and Carole G Brasse-Lagnel and Annie Laqu{\'e}rriere and St{\'e}phane Marret and Abla Chalabi Benabdellah and Soumeya Bekri}, booktitle={International journal of molecular sciences}, year={2016} }