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Article

Adult-onset MLD: a gene mutation with isolated polyneuropathy.

Neurology - 10 Oct 2000

Felice K J, Gomez Lira M, Natowicz M, Grunnet M L, Tsongalis G J, Sima A A, Kaplan R F

Abstract excerpt

A 22-year-old man presented with recurrent ulnar mononeuropathies and diffusely slow nerve conduction velocities. Arylsulfatase A (ASA) activity from leukocytes and fibroblasts was reduced, and urinary sulfatides were increased. Sural nerve biopsy revealed a reduction in myelinated fibers and Schwann cell inclusions. Results of studies of CNS integrity, including cranial MRI, evoked potentials, and...

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Source

Identifiers

PMID: 11061266
DOI: 10.1212/wnl.55.7.1036

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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