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Items: 1 to 20 of 134

1.

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
4.

Aspartylglucosaminuria among Palestinian Arabs.

Zlotogora J, Ben-Neriah Z, Abu-Libdeh BY, Sury V, Zeigler M.

J Inherit Metab Dis. 1997 Nov;20(6):799-802.

PMID:
9427148
5.

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
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Aspartylglucosaminuria: cDNA encoding human aspartylglucosaminidase and the missense mutation causing the disease.

Ikonen E, Baumann M, Grön K, Syvänen AC, Enomaa N, Halila R, Aula P, Peltonen L.

EMBO J. 1991 Jan;10(1):51-8.

9.

Molecular pathogenesis of a disease: structural consequences of aspartylglucosaminuria mutations.

Saarela J, Laine M, Oinonen C, von Schantz C, Jalanko A, Rouvinen J, Peltonen L.

Hum Mol Genet. 2001 Apr 15;10(9):983-95.

PMID:
11309371
10.

In vitro mutagenesis helps to unravel the biological consequences of aspartylglucosaminuria mutation.

Ikonen E, Enomaa N, Ulmanen I, Peltonen L.

Genomics. 1991 Sep;11(1):206-11.

PMID:
1765378
11.

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.

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

Ikonen E, Peltonen L.

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

PMID:
1301945
15.

Characterization of three alleles causing aspartylglycosaminuria: two from a British family and one from an American patient.

Park H, Vettese MB, Fensom AH, Fisher KJ, Aronson NN Jr.

Biochem J. 1993 Mar 15;290 ( Pt 3):735-41.

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.

17.

Origin of Finnish mutations causing aspartylglucosaminuria.

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

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

18.

Finnish-type aspartylglucosaminuria detected by oligonucleotide ligation assay.

Delahunty CM, Ankener W, Brainerd S, Nickerson DA, Mononen IT.

Clin Chem. 1995 Jan;41(1):59-61.

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20.

A novel aspartylglucosaminuria mutation affects translocation of aspartylglucosaminidase.

Saarela J, von Schantz C, Peltonen L, Jalanko A.

Hum Mutat. 2004 Oct;24(4):350-1.

PMID:
15365992

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