Search

Your search keyword '"Mucopolysaccharidosis III psychology"' showing total 2 results
Start Over Descriptor "Mucopolysaccharidosis III psychology" Publisher wiley-liss
2 results on '"Mucopolysaccharidosis III psychology"'

2. Intrafamilial variability in Hurler syndrome and Sanfilippo syndrome type A: implications for evaluation of new therapies.

Author

McDowell GA, Cowan TM, Blitzer MG, and Greene CL

Subjects
Adolescent, Child, Child Behavior Disorders genetics, Child, Preschool, Developmental Disabilities genetics, Female, Humans, Intellectual Disability genetics, Male, Mucopolysaccharidosis I psychology, Mucopolysaccharidosis I therapy, Mucopolysaccharidosis III psychology, Mucopolysaccharidosis III therapy, Phenotype, Prognosis, Mucopolysaccharidosis I genetics, Mucopolysaccharidosis III genetics
Abstract

Intrafamilial variability has not been reported previously in Hurler syndrome or Sanfilippo syndrome type A. We describe two families in which sibs with comparable deficiencies of alpha-iduronidase (Hurler) or sulfamidase (Sanfilippo type A) activities in vitro nonetheless have divergence in clinical severity and disease progression. These cases underscore the need for caution in counseling as well as the limitations of using sibs as controls in evaluating the outcome of treatment.

Published
1993
Full Text
View/download PDF

Catalog

Books, media, physical & digital resources
See catalog results