Abstract
In a series of cases collected in most parts of the world, Sanfilippo disease type A is more frequent than type B. Skin biopsies were obtained from Greek patients suspected for Sanfilippo disease and cultured fibroblasts were assayed for both N‐acetyl‐a‐glucosaminidase and sulfami‐dase activity. Eleven patients with Sanfilippo disease were identified. Ten of them were type B and one type A. The 10 patients with type B came from East‐Central Greece and the neighboring areas of Thessaly and Macedonia. Both parents of the type A patient were from the Greek ethnic community of Turkey. It remains unknown whether or not the higher frequency of type B than type A appears only in Greece or if it occurs in other Mediterranean countries as well.
Original language | English (US) |
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Pages (from-to) | 129-132 |
Number of pages | 4 |
Journal | Clinical Genetics |
Volume | 29 |
Issue number | 2 |
DOIs | |
State | Published - Feb 1986 |
Externally published | Yes |
Keywords
- Genetic epidemiology
- N‐acetyl‐α‐D‐glucosaminidase
- Sanfilippo disease
- mucopolysaccharidoses
- sulfamidase
ASJC Scopus subject areas
- Genetics
- Genetics(clinical)