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Items: 1 to 20 of 169

1.

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.

PMID:
9627765
2.

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.

PMID:
9137882
3.
4.

Overgrowth of oral mucosa and facial skin, a novel feature of aspartylglucosaminuria.

Arvio P, Arvio M, Kero M, Pirinen S, Lukinmaa PL.

J Med Genet. 1999 May;36(5):398-404.

5.

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 Jr, Ginns EI, Peltonen L.

Hum Mol Genet. 1998 Feb;7(2):265-72.

PMID:
9425233
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8.

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.

PMID:
6507482
9.

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.

10.

Liquid-chromatographic detection of aspartylglycosaminuria.

Mononen T, Parviainen M, Penttilä I, Mononen I.

Clin Chem. 1986 Mar;32(3):501-2.

11.

Reduction in head size in patients with aspartylglucosaminuria.

Arvio M, Arvio P, Hurmerinta K, Pirinen S, Sillanpää M.

Acta Neurol Scand. 2005 Nov;112(5):335-7.

PMID:
16218917
12.

Origin of Finnish mutations causing aspartylglucosaminuria.

Valkonen S, Hietala M, Savontaus ML, Aula P.

Hereditas. 1999;131(3):191-5.

13.

Mutations causing aspartylglucosaminuria (AGU): a lysosomal accumulation disease.

Ikonen E, Peltonen L.

Hum Mutat. 1992;1(5):361-5. Review.

PMID:
1301945
14.

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.

PMID:
10480438
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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 15;88(24):11222-6.

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Convenient and quantitative determination of the frequency of a mutant allele using solid-phase minisequencing: application to aspartylglucosaminuria in Finland.

Syvänen AC, Ikonen E, Manninen T, Bengtström M, Söderlund H, Aula P, Peltonen L.

Genomics. 1992 Mar;12(3):590-5.

PMID:
1559710

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