Abstract Mucopolysaccharidosis type I (MPS I) is an autosomal recessive lysosomal storage disorder caused by a genetic defect in alpha-L-iduronidase (IDUA) which is involved in the degradation of dermatan and heparan sulfates. The disease has severe and milder phenotypic subtypes. The aim of this study was the detection of mutations in the IDUA gene from 12 additional MPS I patients with various clinical phenotypes (severe, 8 cases; intermediate, 3 cases; mild, 1 case). Patients and methods In this study, the IDUA mutations in eight unrelated Tunisian families were performed by amplifying and sequencing the IDUA exons and intron-exon jonctions. Results Five IDUA mutations were detected: one is the L578Q, a novel mutation found, in milder pa...
Mutational analysis of the IDUA gene was performed in a cohort of 102 European patients with mucopol...
Mucopolysaccharidosis type I (MPS I) was a group of rare autosomal recessive disorder caused by the ...
Mutational analysis of the IDUA gene was performed in a cohort of 102 European patients with mucopol...
The mucopolysaccharidoses (MPS) are a group of lysosomal storage diseases, presenting with a progres...
Mucopolysaccharidoses (MPS’s) represent a subgroup of lysosomal storage diseases related to a defici...
Mucopolysaccharidosis type I (MPS-I) is an autosomal recessive disease caused by mutations in the al...
In this study we have investigated a group of 29 Brazilian patients, who had been diagnosed with the...
Abstract Background The mucopolysaccharidosis type I (MPS I) is a lysosomal storage disease resultin...
In this study we have investigated a group of 29 Brazilian patients, who had been diagnosed with the...
Mucopolysaccharidosis type I (MPS I) is an autosomal recessive lysosomal storage disorder caused by ...
BACKGROUND: Mucopolysaccharidoses type III (MPS III) are a group of autosomal recessive lysosomal s...
Mucopolysaccharidosis type I (MPSI) is a rare autosomal recessive disorder caused by mutations in th...
There are 11 different enzymes involved in the stepwise degradation of glycosaminoglycans (GAGs). ...
Mucopolysaccharidosis type I (MPS I) is an autosomal recessive storage disorder that result as a con...
Abstract Mucopolysaccharidosis type I (MPS I) was a group of rare autosomal recessive disorder cause...
Mutational analysis of the IDUA gene was performed in a cohort of 102 European patients with mucopol...
Mucopolysaccharidosis type I (MPS I) was a group of rare autosomal recessive disorder caused by the ...
Mutational analysis of the IDUA gene was performed in a cohort of 102 European patients with mucopol...
The mucopolysaccharidoses (MPS) are a group of lysosomal storage diseases, presenting with a progres...
Mucopolysaccharidoses (MPS’s) represent a subgroup of lysosomal storage diseases related to a defici...
Mucopolysaccharidosis type I (MPS-I) is an autosomal recessive disease caused by mutations in the al...
In this study we have investigated a group of 29 Brazilian patients, who had been diagnosed with the...
Abstract Background The mucopolysaccharidosis type I (MPS I) is a lysosomal storage disease resultin...
In this study we have investigated a group of 29 Brazilian patients, who had been diagnosed with the...
Mucopolysaccharidosis type I (MPS I) is an autosomal recessive lysosomal storage disorder caused by ...
BACKGROUND: Mucopolysaccharidoses type III (MPS III) are a group of autosomal recessive lysosomal s...
Mucopolysaccharidosis type I (MPSI) is a rare autosomal recessive disorder caused by mutations in th...
There are 11 different enzymes involved in the stepwise degradation of glycosaminoglycans (GAGs). ...
Mucopolysaccharidosis type I (MPS I) is an autosomal recessive storage disorder that result as a con...
Abstract Mucopolysaccharidosis type I (MPS I) was a group of rare autosomal recessive disorder cause...
Mutational analysis of the IDUA gene was performed in a cohort of 102 European patients with mucopol...
Mucopolysaccharidosis type I (MPS I) was a group of rare autosomal recessive disorder caused by the ...
Mutational analysis of the IDUA gene was performed in a cohort of 102 European patients with mucopol...