title: Neuroaxonal dystrophy due to lysosomal alpha-N-acetylgalactosaminidase deficiency.
authors.affiliation: Division of Medical and Molecular Genetics, Mount Sinai School of Medicine, New York, NY 10029.
authors.forename: D
authors.initials: D
authors.lastname: Schindler
authors.forename: D F
authors.initials: DF
authors.lastname: Bishop
authors.forename: D E
authors.initials: DE
authors.lastname: Wolfe
authors.forename: A M
authors.initials: AM
authors.lastname: Wang
authors.forename: H
authors.initials: H
authors.lastname: Egge
authors.forename: R U
authors.initials: RU
authors.lastname: Lemieux
authors.forename: R J
authors.initials: RJ
authors.lastname: Desnick
mesh_terms: D000116:Acetylgalactosamine / Q000378:metabolism; D001369:Axons / Q000473:pathology; D001927:Brain Diseases / Q000235:genetics* / Q000473:pathology; D002675:Child, Preschool; D006001:Glycoconjugates / Q000032:analysis; D006596:Hexosaminidases / Q000172:deficiency* / Q000276:immunology; D006801:Humans; D015151:Immunoblotting; D008247:Lysosomes / Q000201:enzymology; D008297:Male; D048809:alpha-N-Acetylgalactosaminidase
chemical_list: D006001:Glycoconjugates; D006596:Hexosaminidases; C482722:NAGA protein, human; D048809:alpha-N-Acetylgalactosaminidase; D000116:Acetylgalactosamine