| 释义 |
DictionarySeesyndromeSanfilippo's syndrome
Sanfilippo's syndrome [san-fil´ĭ-pōz] a form of mucopolysaccharidosis, transmitted as an autosomal recessive trait, resembling hurler's syndrome, except that most of the somatic and skeletal changes are less severe. It occurs in two clinically indistinguishable types: type A, due to deficiency of heparan sulfate sulfamidase, and type B, due to deficiency of N-acetyl-α-d-glucosaminidase. (See Atlas 1, Part F). |