Author:
Yamamoto Toshiyuki,Shimojima Keiko,Matsufuji Mayumi,Mashima Ryuichi,Sakai Eri,Okuyama Torayuki
Subject
Clinical Neurology,Developmental Neuroscience,General Medicine,Pediatrics, Perinatology, and Child Health
Reference12 articles.
1. Large quantities of 2-acetamido-1-(beta-l-aspartamido)-1,2-dideoxyglucose in the urine of mentally retarded siblings;Jenner;Biochem J,1967
2. Characterization of the mutation responsible for aspartylglucosaminuria in three Finnish patients. Amino acid substitution Cys163––Ser abolishes the activity of lysosomal glycosylasparaginase and its conversion into subunits;Fisher;J Biol Chem,1991
3. Aspartylglucosaminuria: cDNA encoding human aspartylglucosaminidase and the missense mutation causing the disease;Ikonen;EMBO J,1991
4. Convenient and quantitative determination of the frequency of a mutant allele using solid-phase minisequencing: application to aspartylglucosaminuria in Finland;Syvanen;Genomics,1992
5. Two Japanese cases with aspartylglycosaminuria: clinical and morphological features;Yoshida;Clin Genet,1991
Cited by
4 articles.
订阅此论文施引文献
订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献