A clinical study of 77 patients with
mucopolysaccharidosis type II. Acta Paediatr.
Hunter syndrome (
Mucopolysaccharidosis type II) is an inherited lysosomal storage disease that occurs primarily in boys.
In most cases, such a condition in a young child tells doctors something else is at work, and genetic testing revealed a diagnosis that Emily and Steve struggled to pronounce or comprehend at first --
Mucopolysaccharidosis Type II, or Hunter syndrome, a genetic disorder that affects boys almost exclusively.
The impact of Hunter syndrome (
mucopolysaccharidosis type II) on health-related quality of life.
Mucopolysaccharidosis Type II (MPS II, Hunter syndrome, OMIM 309900) is one of the seven types of MPS I, II, III, IV, VI, VII, IX.
Scarpa, "
Mucopolysaccharidosis type II," in GeneReviews, R.
Hunter syndrome (
mucopolysaccharidosis type II (MPS II)) is a lysosomal disease characterized by deficiency of the lysosomal enzyme iduronate-2-sulfatase (I2S).
Mucopolysaccharidosis type II: European recommendations for the diagnosis and multidisciplinary managementofararedisease.OrphanetJRareDis.2011;6:1-18.
Mucopolysaccharidosis type II (MPS II), also known as Hunter syndrome, is a rare lysosomal storage disorder caused by a deficiency of the lysosomal enzyme iduronate 2-sulfatase.
Detection of
mucopolysaccharidosis type II by measurement of iduronate-2-sulfatase in dried blood spots and plasma samples.
Also among the participants were three brothers afflicted with Hunter syndrome (
mucopolysaccharidosis type II) where an enzyme needed to break down complex sugar in the body is either missing or malfunctioning.