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4. Bilateral pulvinar signal intensity decrease on T2-weighted images in patients with aspartylglucosaminuria. Autti T; Lönnqvist T; Joensuu R Acta Radiol; 2008 Jul; 49(6):687-92. PubMed ID: 18568562 [TBL] [Abstract][Full Text] [Related]
5. Aspartylglucosaminuria in a Canadian family. Gordon BA; Rupar CA; Rip JW; Haust MD; Coulter-Mackie MB; Scott E; Hinton GG Clin Invest Med; 1998 Jun; 21(3):114-23. PubMed ID: 9627765 [TBL] [Abstract][Full Text] [Related]
6. Identification of a novel mutation causing aspartylglucosaminuria reveals a mutation hotspot region in the aspartylglucosaminidase gene. Isoniemi A; Hietala M; Aula P; Jalanko A; Peltonen L Hum Mutat; 1995; 5(4):318-26. PubMed ID: 7627186 [TBL] [Abstract][Full Text] [Related]
9. Two novel mutations in a Canadian family with aspartylglucosaminuria and early outcome post bone marrow transplantation. Laitinen A; Hietala M; Haworth JC; Schroeder ML; Seargeant LE; Greenberg CR; Aula P Clin Genet; 1997 Mar; 51(3):174-8. PubMed ID: 9137882 [TBL] [Abstract][Full Text] [Related]
10. Dissection of the molecular pathology of aspartylglucosaminuria provides the basis for DNA diagnostics and future therapeutic interventions. Ikonen E; Syvänen AC; Peltonen L Scand J Clin Lab Invest Suppl; 1993; 213():19-27. PubMed ID: 8322015 [TBL] [Abstract][Full Text] [Related]
11. Mice with an aspartylglucosaminuria mutation similar to humans replicate the pathophysiology in patients. Jalanko A; Tenhunen K; McKinney CE; LaMarca ME; Rapola J; Autti T; Joensuu R; Manninen T; Sipilä I; Ikonen S; Riekkinen P; Ginns EI; Peltonen L Hum Mol Genet; 1998 Feb; 7(2):265-72. PubMed ID: 9425233 [TBL] [Abstract][Full Text] [Related]
12. Characteristic dental arches and occlusion in patients with aspartylglucosaminuria. Arvio P; Arvio M; Pirinen S J Craniofac Genet Dev Biol; 1997; 17(3):133-40. PubMed ID: 9338856 [TBL] [Abstract][Full Text] [Related]
13. 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]
14. Origin of Finnish mutations causing aspartylglucosaminuria. Valkonen S; Hietala M; Savontaus ML; Aula P Hereditas; 1999; 131(3):191-5. PubMed ID: 10783529 [TBL] [Abstract][Full Text] [Related]
16. Aspartylglucosaminuria in northern Norway: a molecular and genealogical study. Tollersrud OK; Nilssen O; Tranebjaerg L; Borud O J Med Genet; 1994 May; 31(5):360-3. PubMed ID: 8064811 [TBL] [Abstract][Full Text] [Related]
17. Correction of peripheral lysosomal accumulation in mice with aspartylglucosaminuria by bone marrow transplantation. Laine M; Richter J; Fahlman C; Rapola J; Renlund M; Peltonen L; Karlsson S; Jalanko A Exp Hematol; 1999 Sep; 27(9):1467-74. PubMed ID: 10480438 [TBL] [Abstract][Full Text] [Related]
18. Spectrum of mutations in aspartylglucosaminuria. Ikonen E; Aula P; Grön K; Tollersrud O; Halila R; Manninen T; Syvänen AC; Peltonen L Proc Natl Acad Sci U S A; 1991 Dec; 88(24):11222-6. PubMed ID: 1722323 [TBL] [Abstract][Full Text] [Related]
19. Progressive neurodegeneration in aspartylglycosaminuria mice. Gonzalez-Gomez I; Mononen I; Heisterkamp N; Groffen J; Kaartinen V Am J Pathol; 1998 Oct; 153(4):1293-300. PubMed ID: 9777961 [TBL] [Abstract][Full Text] [Related]
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