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4. Variation of urinary excretion of aspartylglucosamine and associated clinical findings in aspartyglucosaminuria. Aula P; Raivio KO; Maury P J Inherit Metab Dis; 1980; 3(4):159-62. PubMed ID: 6787338 [TBL] [Abstract][Full Text] [Related]
5. Aspartylglucosaminuria in a Puerto Rican family: additional features of a panethnic disorder. Chitayat D; Nakagawa S; Marion RW; Sachs GS; Hahm SY; Goldman HS Am J Med Genet; 1988 Nov; 31(3):527-32. PubMed ID: 3228136 [TBL] [Abstract][Full Text] [Related]
6. Bone marrow transplantation in aspartylglucosaminuria--histopathological and MRI study. Autti T; Rapola J; Santavuori P; Raininko R; Renlund M; Liukkonen E; Lauronen L; Wirtavuori K; Hietala M; Saarinen-Pihkala U Neuropediatrics; 1999 Dec; 30(6):283-8. PubMed ID: 10706021 [TBL] [Abstract][Full Text] [Related]
7. Finger clubbing and aspartylglucosamine excretion in a laxative-abusing patient. Malmquist J; Ericsson B; Hultén-Nosslin MB; Jeppsson JO; Ljungberg O Postgrad Med J; 1980 Dec; 56(662):862-4. PubMed ID: 7267500 [TBL] [Abstract][Full Text] [Related]
9. A fluorometric assay for glycosylasparaginase activity and detection of aspartylglycosaminuria. Mononen IT; Kaartinen VM; Williams JC Anal Biochem; 1993 Feb; 208(2):372-4. PubMed ID: 8452235 [TBL] [Abstract][Full Text] [Related]
10. Aspartylglucosaminuria in the United States. Hreidarsson S; Thomas GH; Valle DL; Stevenson RE; Taylor H; McCarty J; Coker SB; Green WR Clin Genet; 1983 Jun; 23(6):427-35. PubMed ID: 6883788 [TBL] [Abstract][Full Text] [Related]
11. Aspartylglucosaminuria: deficiency of aspartylglucosaminidase in cultured fibroblasts of patients and their heterozygous parents. Aula P; Näntö V; Laipio ML; Autio S Clin Genet; 1973; 4(3):297-300. PubMed ID: 4765214 [No Abstract] [Full Text] [Related]
12. [A family with two children diagnosed with aspartylglucosaminuria-case report and literature review]. Liu Y; Zou L; Meng Y; Zhang Y; Shi X; Ju J; Yang G; Hu L; Chen X Zhonghua Er Ke Za Zhi; 2014 Jun; 52(6):455-9. PubMed ID: 25190167 [TBL] [Abstract][Full Text] [Related]
13. Dysmorphic facial features in aspartylglucosaminuria patients and carriers. Arvio MA; Peippo MM; Arvio PJ; Kääriäinen HA Clin Dysmorphol; 2004 Jan; 13(1):11-5. PubMed ID: 15127757 [TBL] [Abstract][Full Text] [Related]
14. Spontaneous storage-like disease in a rabbit. Hill JE; Long PH; Rowland GN; Proctor JE Vet Pathol; 1988 Jan; 25(1):91-2. PubMed ID: 3344572 [No Abstract] [Full Text] [Related]
15. Aspartylglycosaminuria in an Italian family: clinical and biochemical characteristics. Gehler J; Sewell AC; Becker C; Spranger J; Hartmann J J Inherit Metab Dis; 1981; 4(4):229-30. PubMed ID: 6796777 [TBL] [Abstract][Full Text] [Related]
16. A prolidase deficiency in man with iminopeptiduria. Powell GF; Rasco MA; Maniscalco RM Metabolism; 1974 Jun; 23(6):505-13. PubMed ID: 4828441 [No Abstract] [Full Text] [Related]
17. Isolation of the liver N-aspartyl-beta-glucosaminidase in aspartylglucosaminuria. Savolainen H Biochem J; 1976 Mar; 153(3):749-50. PubMed ID: 942387 [TBL] [Abstract][Full Text] [Related]
18. Screening of inherited oligosaccharidurias among mentally retarded patients in northern Finland. Aula P; Renlund M; Raivio KO; Koskela SL J Ment Defic Res; 1986 Dec; 30 ( Pt 4)():365-8. PubMed ID: 3806663 [TBL] [Abstract][Full Text] [Related]
19. Prenatal diagnosis and fetal pathology of aspartylglucosaminuria. Aula P; Rapola J; von Koskull H; Ammälä P Am J Med Genet; 1984 Oct; 19(2):359-67. PubMed ID: 6507482 [TBL] [Abstract][Full Text] [Related]
20. Aspartylglucosaminuria caused by a novel homozygous mutation in the AGA gene was identified by an exome-first approach in a patient from Japan. Yamamoto T; Shimojima K; Matsufuji M; Mashima R; Sakai E; Okuyama T Brain Dev; 2017 May; 39(5):422-425. PubMed ID: 28063748 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]