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Evaluation of reliability for urine mucopolysaccharidosis screening by dimethylmethylene blue and Berry spot tests
(2004)
Background: The mucopolysaccharidosis (MPS) are a group of inherited metabolic disorders resulting from the deficiency of the enzyme responsible for intralysosomal catabolism of glycosaminoglycans (GAGs). GAGs are progressively ...
Mucopolysaccharidosis type II: identification of 30 novel mutations among Latin American patients
(Elsevier, 2014)
In this study, 103 unrelated South-American patients with mucopolysaccharidosis type II (MPS II) were investigated aiming at the identification of iduronate-2-sulfatase (IDS) disease causing mutations and the possibility ...
Laronidase for treating mucopolysaccharidosis type I
(Funpec-editora, 2007-01-01)
Mucopolysaccharidoses are a group of inherited metabolic diseases caused by the absence or deficiency of the lysosomal enzymes that are needed for breaking down glycosaminoglycans (GAGs). Over time, GAGs collect in cells, ...
Mucopolysaccharidosis type II: Identification of 30 novel mutations among Latin American patients
(Elsevier, 2014)
In this study, 103 unrelated South-American patients with mucopolysaccharidosis type II (MPS II) were investigated aiming at the identification of iduronate-2-sulfatase (IDS) disease causing mutations and the possibility ...
Mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome) in the pre-Columbian culture of Colombia.
(2015-02-10)
Mucopolysaccharidosis type VI or Maroteaux Lamy syndrome is an autosomal recessive lysosomal storage disorder resulting from a deficiency of arylsulfatase B, the clinical features include short stature, hepatosplenomegaly, ...