Lysosomal alpha-N-acetylgalactosaminidase deficiency: a new inherited metabolic disease. 1987

O P van Diggelen, and D Schindler, and W J Kleijer, and J M Huijmans, and H Galjaard, and H U Linden, and J Peter-Katalinic, and H Egge, and U Dabrowski, and M Cantz

UI MeSH Term Description Entries
D008297 Male Males
D002239 Carbohydrate Metabolism, Inborn Errors Dysfunctions of CARBOHYDRATE METABOLISM resulting from inborn genetic mutations that are inherited or acquired in utero. Carbohydrate Metabolism, Inborn Error
D002675 Child, Preschool A child between the ages of 2 and 5. Children, Preschool,Preschool Child,Preschool Children
D006596 Hexosaminidases Enzymes that catalyze the hydrolysis of N-acylhexosamine residues in N-acylhexosamides. Hexosaminidases also act on GLUCOSIDES; GALACTOSIDES; and several OLIGOSACCHARIDES. Galactosaminidases,Hexosaminidase,Galactosaminidase,Glucosaminidase,Glucosaminidases
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D048809 alpha-N-Acetylgalactosaminidase A hexosaminidase with specificity for terminal non-reducing N-acetyl-D-galactosamine residues in N-acetyl-alpha-D-galactosaminides. alpha-N-Acetyl-D-galactosaminidase,N-Acetyl-alpha-D-Galactosaminidase,alpha-D-N-Acetyl-Galactosaminyloligosaccharidase,alpha-D-N-Acetylgalactosaminyloligosaccharidase,alpha-Galactosidase B,endo-N-Acetyl-alpha-D-Galactosamidase,endo-alpha-N-Acetylgalactosaminidase,N Acetyl alpha D Galactosaminidase,alpha D N Acetyl Galactosaminyloligosaccharidase,alpha D N Acetylgalactosaminyloligosaccharidase,alpha Galactosidase B,alpha N Acetyl D galactosaminidase,alpha N Acetylgalactosaminidase,endo N Acetyl alpha D Galactosamidase,endo alpha N Acetylgalactosaminidase

Related Publications

O P van Diggelen, and D Schindler, and W J Kleijer, and J M Huijmans, and H Galjaard, and H U Linden, and J Peter-Katalinic, and H Egge, and U Dabrowski, and M Cantz
June 1989, The New England journal of medicine,
O P van Diggelen, and D Schindler, and W J Kleijer, and J M Huijmans, and H Galjaard, and H U Linden, and J Peter-Katalinic, and H Egge, and U Dabrowski, and M Cantz
January 1990, Journal of inherited metabolic disease,
O P van Diggelen, and D Schindler, and W J Kleijer, and J M Huijmans, and H Galjaard, and H U Linden, and J Peter-Katalinic, and H Egge, and U Dabrowski, and M Cantz
January 1998, Ryoikibetsu shokogun shirizu,
O P van Diggelen, and D Schindler, and W J Kleijer, and J M Huijmans, and H Galjaard, and H U Linden, and J Peter-Katalinic, and H Egge, and U Dabrowski, and M Cantz
October 1999, Biochimica et biophysica acta,
O P van Diggelen, and D Schindler, and W J Kleijer, and J M Huijmans, and H Galjaard, and H U Linden, and J Peter-Katalinic, and H Egge, and U Dabrowski, and M Cantz
August 1991, The Journal of clinical investigation,
O P van Diggelen, and D Schindler, and W J Kleijer, and J M Huijmans, and H Galjaard, and H U Linden, and J Peter-Katalinic, and H Egge, and U Dabrowski, and M Cantz
May 2002, Journal of dermatological science,
O P van Diggelen, and D Schindler, and W J Kleijer, and J M Huijmans, and H Galjaard, and H U Linden, and J Peter-Katalinic, and H Egge, and U Dabrowski, and M Cantz
September 1995, Journal of the neurological sciences,
O P van Diggelen, and D Schindler, and W J Kleijer, and J M Huijmans, and H Galjaard, and H U Linden, and J Peter-Katalinic, and H Egge, and U Dabrowski, and M Cantz
February 2007, Journal of inherited metabolic disease,
O P van Diggelen, and D Schindler, and W J Kleijer, and J M Huijmans, and H Galjaard, and H U Linden, and J Peter-Katalinic, and H Egge, and U Dabrowski, and M Cantz
January 2004, Journal of human genetics,
O P van Diggelen, and D Schindler, and W J Kleijer, and J M Huijmans, and H Galjaard, and H U Linden, and J Peter-Katalinic, and H Egge, and U Dabrowski, and M Cantz
March 1996, Clinica chimica acta; international journal of clinical chemistry,
Copied contents to your clipboard!