Carrier detection for sanfilippo A syndrome

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

Research output: Contribution to journalArticle

9 Citations (Scopus)

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 1988
Externally publishedYes

Fingerprint

Mucopolysaccharidosis III
Homozygote
Heterozygote
Leukocytes
Fibroblasts
N-sulfoglucosamine sulfohydrolase

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics
  • Endocrinology

Cite this

Carrier detection for sanfilippo A syndrome. / Matalon, Reuben; Deanching, M.; Marback, R.; Michals, K.

In: Journal of Inherited Metabolic Disease, Vol. 11, No. 2, 06.1988, p. 158-160.

Research output: Contribution to journalArticle

Matalon, Reuben ; Deanching, M. ; Marback, R. ; Michals, K. / Carrier detection for sanfilippo A syndrome. In: Journal of Inherited Metabolic Disease. 1988 ; Vol. 11, No. 2. pp. 158-160.
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