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Items: 1 to 20 of 168

1.

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.

2.

Origin of Finnish mutations causing aspartylglucosaminuria.

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

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

3.
4.

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
5.

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

Ikonen E, Peltonen L.

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

PMID:
1301945
6.

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
7.

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.

8.

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.

9.

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.

10.

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
11.

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
12.
13.

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
15.

A simple and rapid PCR based method for AGU(Fin) determination.

Nilssen O, Tollersrud OK, Borud O, Tranebjaerg L.

Hum Mol Genet. 1993 Apr;2(4):484. No abstract available.

PMID:
8504311
16.
17.

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
18.

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
19.

Aspartylglycosaminuria: biochemistry and molecular biology.

Aronson NN Jr.

Biochim Biophys Acta. 1999 Oct 8;1455(2-3):139-54. Review.

20.

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