Neuroaxonal dystrophy due to lysosomal alpha-N-acetylgalactosaminidase deficiency.
Schindler
D
D
Division of Medical and Molecular Genetics, Mount Sinai School of Medicine, New York, NY 10029.
Bishop
D F
DF
Wolfe
D E
DE
Wang
A M
AM
Egge
H
H
Lemieux
R U
RU
Desnick
R J
RJ
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
D006001:Glycoconjugates; D006596:Hexosaminidases; C482722:NAGA protein, human; D048809:alpha-N-Acetylgalactosaminidase; D000116:Acetylgalactosamine