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Results 1 - 5 of 5 for Multiple sulfatase deficiency
  1. Multiple sulfatase deficiency is a condition that mainly affects the brain, skin, and skeleton. Because the signs and symptoms of multiple sulfatase deficiency ...
  2. ... the SUMF1 gene have been found to cause multiple sulfatase deficiency. This condition is apparent at birth or early ... skeletal abnormalities. Most SUMF1 gene mutations that cause multiple sulfatase deficiency change single amino acids in the FGE enzyme. ...
  3. ... their sons. Hunter syndrome I2S deficiency Iduronate 2-sulfatase deficiency MPS II Genetic Testing Registry: Mucopolysaccharidosis, MPS-II ...
  4. ... symptoms of metachromatic leukodystrophy. This condition, called pseudoarylsulfatase ... cerebroside 3-sulfatase Cerebroside-3-sulfate 3-sulfohydrolase Cerebroside-Sulfatase MLD ...
  5. ... arylsulfatase B (also known as N-acetylgalactosamine-4-sulfatase), which is involved in the breakdown of large ... clinical implications of mutations in N-acetylgalactosamine-4-sulfatase. Hum Mutat. 2001 Oct;18(4):282-95. ...