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Schindler disease

Pronunciation: shind'ler

Definition: an autosomal recessive disorder with deficient activity of a-N-acetylgalactosaminidase resulting in accumulation of glycoproteins and other substrates that are deposited in terminal axons, primarily in gray matter.

Further information

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© Copyright 2018 Wolters Kluwer. All Rights Reserved. Review date: Sep 19, 2016.