[Human geneticist from Würzburg discovers a new hereditary disease. Schindler disease: an autosome recessive neuro-axonal dystrophy].
Höhn
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Institut für Humangenetik, Universität Würzburg.
D001369:Axons / Q000473:pathology; D001921:Brain / Q000473:pathology; D001928:Brain Diseases, Metabolic / Q000201:enzymology / Q000235:genetics* / Q000473:pathology; D002869:Chromosome Aberrations / Q000235:genetics* / Q000473:pathology; D025063:Chromosome Disorders; D005808:Genes, Recessive / Q000235:genetics*; D006596:Hexosaminidases / Q000172:deficiency* / Q000235:genetics; D006801:Humans; D007223:Infant; D009474:Neurons / Q000473:pathology; D048809:alpha-N-Acetylgalactosaminidase
D006596:Hexosaminidases; C482722:NAGA protein, human; D048809:alpha-N-Acetylgalactosaminidase
Würzburger Humangenetiker entdeckt neue Erbkrankheit. Schindler disease: eine autosomal rezessive neuroaxonale Dystrophie.