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

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...

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Detalles Bibliográficos
Autores principales: Tebani, Abdellah, Zanoutene-Cheriet, Lahouaria, Adjtoutah, Zoubir, Abily-Donval, Lenaig, Brasse-Lagnel, Carole, Laquerrière, Annie, Marret, Stephane, Chalabi Benabdellah, Abla, Bekri, Soumeya
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2016
Materias:
Communication
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4881565/
https://www.ncbi.nlm.nih.gov/pubmed/27196898
http://dx.doi.org/10.3390/ijms17050743

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