Article
Concomitant occurrence of mucopolysaccharidosis IIIB and Glanzmann's thrombasthenia. Further evidence of a hyperactive alpha-N-acetylglucosaminidase-producing allele.
Clinical genetics - 1 May 1992
Pande H, Chester A, Lie H, Thorsby E, Stormorken H
Abstract excerpt
A daughter of first cousins had two extremely rare, recessive disorders: thrombasthenia (Glanzmann's disease, glycoprotein IIb/IIIa deficiency) and mucopolysaccharidosis IIIB, (Sanfilippo B syndrome, alpha-N-acetylglucosaminidase (NAG) deficiency). Normal alpha-N-acetylglucosaminidase activity wa...
Topics
- Acetylglucosaminidase
- Alleles
- Consanguinity
- Female
- Humans
- Infant, Newborn
- Mucopolysaccharidosis III
- Pedigree
- Thrombasthenia