## Communicated by Jürgen Horst Mucopolysaccharidosis type IIIA (MPS IIIA or Sanfilippo A disease) is a storage disorder caused by deficiency of the lysosomal enzyme sulfamidase. Mutation screening, using SSCP/heteroduplex analyses on cDNA and genomic DNA fragments, was performed in a group of 42
An adult Sanfilippo type A patient with homozygous mutation R206P in the sulfamidase gene
✍ Scribed by Orazio Gabrielli; Giovanni V. Coppa; Stefano Bruni; Guglielmo R.D. Villani; Gianfranco Pontarelli; Paola Di Natale
- Publisher
- John Wiley and Sons
- Year
- 2005
- Tongue
- English
- Weight
- 134 KB
- Volume
- 133A
- Category
- Article
- ISSN
- 1552-4825
No coin nor oath required. For personal study only.
📜 SIMILAR VOLUMES
We report two novel homozygous mutations in the myophosphorylase gene (PYGM) in a patient with McArdle´s disease. A C-to-T transition that changed an arginine to tryptophan at codon 193 (R193W) in exon 5, and a deletion of two adenine base pairs in exon 20 at codon 794/795 (794/795 delAA) were ident
Several different mutations in the glycogen-debranching enzyme gene AGL have been found in patients with glycogen storage disease type III (GSD III) to date, but no missense mutations have been reported for GSD III, only nonsense, splicing, and deletion/insertion lesions. Here we describe a novel G1
The molecular basis of a patient with 5␣reductase deficiency was investigated in this study. This disease is a rare form of male pseudohermaphroditism with virilization during puberty. The child was raised as a girl, but had a male gender identity early in life. The diagnosis was set at the age of 1