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Article

DNA-based diagnosis of arylsulfatase A deficiencies as a supplement to enzyme assay: a case in point.

Clinical biochemistry - 1 Feb 1997

Coulter-Mackie M B, Applegarth D A, Toone J, Vallance H

Abstract excerpt

OBJECTIVE: To identify the molecular basis of arylsulfatase A deficiency in a family at risk for metachromatic leukodystrophy (MLD) and determine the genetic risk in the offspring. METHODS: Mutations in the arylsulfatase A gene were identified by PCR amplification and restriction enzyme digestion. Individuals had previously been tested for arylsulfatase A activity. RESULTS: Assays of arylsulfatase A activity had...

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PMID: 9056111
DOI: 10.1016/s0009-9120(96)00124-5

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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DNA-based diagnosis of arylsulfatase A deficiencies as a supplement to enzyme assay: a case in point.PMID 9056111Read ↗

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An assay for the rapid detection of the arylsulfatase A pseudodeficiency allele facilitates diagnosis and genetic counseling for metachromatic leukodystrophy.Semantic proximity Read ↗

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Discrimination between metachromatic leukodystrophy and pseudo-deficiency of arylsulfatase A by restriction digest of amplified gene fragments.Semantic proximity Read ↗

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