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Article

Schindler disease: an inherited neuroaxonal dystrophy due to alpha-N-acetylgalactosaminidase deficiency.

Journal of inherited metabolic disease - 1 Jan 1990

Desnick R J, Wang A M

Abstract excerpt

The clinical, pathological and biochemical features of a neuroaxonal dystrophy resulting from the deficient activity of lysosomal alpha-N-acetylgalactosaminidase are described. This neurodegenerative disorder was recognized in two brothers who had the typical clinical manifestations and neuropathological lesions observed in patients with Seitelberger disease, the infantile form of neuroaxonal dystrophy. Axonal...

Topics

Axons
Carbohydrate Sequence
Hexosaminidases
Humans
Molecular Sequence Data
Mutation
Neuromuscular Diseases
Pedigree
alpha-N-Acetylgalactosaminidase

Source

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 2122121
DOI: 10.1007/BF01799512

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-2122121-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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