Alpha-N-acetylgalactosaminidase deficiency with mild clinical manifestations and difficult biochemical diagnosis
- 30 September 1994
- journal article
- case report
- Published by Elsevier in The Journal of Pediatrics
- Vol. 125 (3) , 385-391
- https://doi.org/10.1016/s0022-3476(05)83281-0
Abstract
No abstract availableKeywords
This publication has 14 references indexed in Scilit:
- Lysosomal alpha-N-acetylgalactosaminidase deficiency, the enzymatic defect in angiokeratoma corporis diffusum with glycopeptiduria.Journal of Clinical Investigation, 1991
- Biosynthesis of human α-N-acetylgalactosaminidase: Defective phosphorylation and maturation in infantile α-NAGA deficiencyBiochemical and Biophysical Research Communications, 1991
- Schindler disease: the molecular lesion in the alpha-N-acetylgalactosaminidase gene that causes an infantile neuroaxonal dystrophy.Journal of Clinical Investigation, 1990
- Schindler disease: An inherited neuroaxonal dystrophy due to α‐N‐acetylgalactosaminidase deficiencyJournal of Inherited Metabolic Disease, 1990
- Neuroaxonal Dystrophy Due to Lysosomal α-N-Acetylgalactosaminidase DeficiencyNew England Journal of Medicine, 1989
- NOVEL LYSOSOMAL GLYCOAMINOACID STORAGE DISEASE WITH ANGIOKERATOMA CORPORIS DIFFUSUMThe Lancet, 1989
- Isolation and Structural Characterization of Sialic Acid-Containing Glycopeptides of the O-GlycosidicType from the Urine of Two Patients with an Hereditary Deliciency in α-N-Acetylgalactosaminidase ActivityBiological Chemistry Hoppe-Seyler, 1989
- α-N-acetylgalactosaminidase deficiency, a new lysosomal storage disorderJournal of Inherited Metabolic Disease, 1988
- LYSOSOMAL α-N-ACETYLGALACTOSAMINIDASE DEFICIENCY: A NEW INHERITED METABOLIC DISEASEThe Lancet, 1987
- Further characterization of two forms of N-acetyl-α-galactosaminidase from human liverBiochimica et Biophysica Acta (BBA) - Enzymology, 1978