Carrier detection for sanfilippo A syndrome

R. Matalon, M. Deanching, R. Marback, K. Michals

Research output: Contribution to journalArticle

9 Scopus citations

Abstract

In Sanfillipo A families, sulphamidase activities in leukocytes and cultured fibroblasts determined at 55°C distinguish between heterozygote-carriers, normal individuals and the homozygotes.

Original languageEnglish (US)
Pages (from-to)158-160
Number of pages3
JournalJournal of Inherited Metabolic Disease
Volume11
Issue number2
DOIs
StatePublished - Jun 1 1988
Externally publishedYes

    Fingerprint

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this