Schindler disease

Schind·ler dis·ease

(shind'ler),
an autosomal recessive disorder with deficient activity of α-N-acetylgalactosaminidase resulting in accumulation of glycoproteins and other substrates that are deposited in terminal axons, primarily in gray matter.
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The possibility of detecting Schindler disease (OMIM #609241) and [beta] -mannosidosis (OMIM #248510), a condition known to remain undetected by TLC analysis (3), has not been explored yet.
From art to science: oligosaccharide analysis by MALDI-TOF mass spectrometry finally replaces 1-dimensional thin-layer chromatography
[alpha]-N-Acetylgalactosaminidase deficiency: Schindler disease. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds.
Improved matrix-assisted laser desorption/ionization time-of-flight mass spectrometric method for identification of amino acid O-glycosides in patients with [alpha]-N-Acetylgalactosaminidase deficiency

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