ABSTRACT
Facial and somatic features and dysostosis multiplex of a mucopolysaccharidosis; ichthyosis; neurologic features of a late infantile metachromatic leukodystrophy; mucopolysacchariduria; defective activity of arylsulfatase A, B, and C, steroid sulfatase and the mucopolysaccharide sulfatases, including iduronate sulfatase, heparan-N-sulfatase, N-acetylgalactosamine-6-sulfatase, and N-acetylglucosamine-6-sulfatase; and defective post-translational enzymatic change of sulfatase cysteine-69 to aminopropionic acid.
