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

doi:10.1002/ajmg.1320470732

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Article

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

American journal of medical genetics - 15 Nov 1993

McDowell G A, Cowan T M, Blitzer M G, Greene C L

Abstract excerpt

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...

Topics

Adolescent
Child
Child Behavior Disorders
Child, Preschool
Developmental Disabilities
Female
Humans
Intellectual Disability
Male
Mucopolysaccharidosis I
Mucopolysaccharidosis III

Phenotype

Prognosis

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