All submissions of the EM system will be redirected to Online Manuscript Submission System. Authors are requested to submit articles directly to Online Manuscript Submission System of respective journal.

Mucopolysaccharidosis I

Human Genetics   Research Article

Clinical features of Mexican patients with Mucopolysaccharidosis type I

Authors: A. Alonzo-Rojo, J.E. Garc�­a-Ortiz, M. Ortiz-Aranda, M.P. Gallegos-Arreola and L.E. Figuera-Villanueva

Mucopolysaccharidosis type I (MPS-I) is an autosomal recessive lysosomal storage disorder caused by a deficiency or absence of α-l-iduronidase, which is involved in the catabolism of glycosaminoglycans (GAGs). This deficiency leads to the accumulation of GAGs in several organs. Given the wide spectrum of the disease, MPS.. Read More»

Genet. Mol. Res. 16(3):
gmr16032602
DOI:
10.4238/gmr16032602