Sanfilippo disease in Greece

N. G. Beratis, S. L. Sklower, L. Wilbur, Reuben Matalon

Research output: Contribution to journalArticle

13 Citations (Scopus)

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 sulfamidase 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 communities 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 languageEnglish (US)
Pages (from-to)129-132
Number of pages4
JournalClinical Genetics
Volume29
Issue number2
StatePublished - 1986
Externally publishedYes

Fingerprint

Greece
Hexosaminidases
Turkey
Fibroblasts
Parents
Biopsy
Skin

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this

Beratis, N. G., Sklower, S. L., Wilbur, L., & Matalon, R. (1986). Sanfilippo disease in Greece. Clinical Genetics, 29(2), 129-132.

Sanfilippo disease in Greece. / Beratis, N. G.; Sklower, S. L.; Wilbur, L.; Matalon, Reuben.

In: Clinical Genetics, Vol. 29, No. 2, 1986, p. 129-132.

Research output: Contribution to journalArticle

Beratis, NG, Sklower, SL, Wilbur, L & Matalon, R 1986, 'Sanfilippo disease in Greece', Clinical Genetics, vol. 29, no. 2, pp. 129-132.
Beratis NG, Sklower SL, Wilbur L, Matalon R. Sanfilippo disease in Greece. Clinical Genetics. 1986;29(2):129-132.
Beratis, N. G. ; Sklower, S. L. ; Wilbur, L. ; Matalon, Reuben. / Sanfilippo disease in Greece. In: Clinical Genetics. 1986 ; Vol. 29, No. 2. pp. 129-132.
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