Aspartylglucosaminuria: Psychomotor retardation masquerading as a mucopolysaccharidosis
- 31 May 1975
- journal article
- case report
- Published by Elsevier in The Journal of Pediatrics
- Vol. 86 (5) , 713-717
- https://doi.org/10.1016/s0022-3476(75)80355-6
Abstract
No abstract availableKeywords
This publication has 7 references indexed in Scilit:
- Cardiac involvement in Sandhoff's disease: Inborn error of glycosphingolipid metabolismThe American Journal of Cardiology, 1974
- Screening test for aspartylglycosaminuriaThe Journal of Pediatrics, 1974
- Aspartylglucosaminuria: Deficiency of aspartylglucosaminidase in cultured fibroblasts of patients and their heterozygous parentsClinical Genetics, 1973
- Thin-layer chromatographic demonstration of aspartylglycosylamine and a novel acidic carbohydrate in human tissuesJournal of Chromatography A, 1972
- Aspartylglucosaminuria II: biochemical studies on brain, liver, kidney and spleenActa Neuropathologica, 1972
- Enzymatic cleavage of 2-acetamido-1-(β'-l-aspartamido)-1,2-dideoxy-β-d-glucose by human plasma and seminal fluid. Failure to detect the heterozygous state for aspartylgly-cosaminuriaClinica Chimica Acta; International Journal of Clinical Chemistry, 1969
- ASPARTYLGLYCOSAMINURIAThe Lancet, 1968