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Article

Schindler disease: the molecular lesion in the alpha-N-acetylgalactosaminidase gene that causes an infantile neuroaxonal dystrophy.

The Journal of clinical investigation - 1 Nov 1990

Wang A M, Schindler D, Desnick R

Abstract excerpt

Schindler disease is a recently recognized infantile neuroaxonal dystrophy resulting from the deficient activity of the lysosomal hydrolase, alpha-N-acetylgalctosaminidase (alpha-GalNAc). The recent isolation and expression of the full-length cDNA encoding alpha-GalNAc facilitated the identification of the molecular lesions in the affected brothers from family D, the first cases described with this autosomal...

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Identifiers

PMID: 2243144
DOI: 10.1172/JCI114901
PMCID: PMC296929

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