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 mutations in the other five patients, including two new mutations (S160C and E193X). The newly identified patient is...
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