Article
Human alpha-N-acetylgalactosaminidase (alpha-NAGA) deficiency: new mutations and the paradox between genotype and phenotype.
Journal of medical genetics - 1 Jun 1996
Keulemans J L, Reuser A J, Kroos M A, Willemsen R, Hermans M M, van den Ouweland A M, de Jong J G, Wevers R A, Renier W O, Schindler D, Coll M J, Chabas A, Sakuraba H, Suzuki Y, van Diggelen O P
Abstract excerpt
Up to now eight patients with alpha-NAGA deficiency have been described. This includes the newly identified patient reported here who died unexpectedly aged 1 1/2 years of hypoxia during convulsions; necropsy was not performed. Three patients have been genotyped previously and here we report the...
Topics
- Animals
- Cells, Cultured
- Child
- Child, Preschool
- Female
- Genotype
- Hexosaminidases
- Humans
- Infant
- Male
- Mutation
- Pedigree
- Phenotype
- Rabbits
- Skin