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Items: 1 to 20 of 101

1.

Two Japanese cases with aspartylglycosaminuria: clinical and morphological features.

Yoshida K, Ikeda S, Yanagisawa N, Yamauchi T, Tsuji S, Hirabayashi Y.

Clin Genet. 1991 Oct;40(4):318-25.

PMID:
1756604
2.

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.

PMID:
6796777
3.

Clinical and biochemical delineation of aspartyl-glycosaminuria as observed in two members of an Italian family.

Gehler J, Sewell AC, Becker C, Hartmann J, Spranger J.

Helv Paediatr Acta. 1981;36(2):179-89.

PMID:
6788730
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.

Angiokeratoma corporis diffusum in a Spanish patient with aspartylglucosaminuria.

Vargas-Díez E, Chabás A, Coll MJ, Sánchez-Pérez J, García-Díez A, Fernández-Herrera JM.

Br J Dermatol. 2002 Oct;147(4):760-4. Review.

PMID:
12366426
6.

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.

PMID:
6883788
7.
8.

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
9.

Aspartylglycosaminuria: an inborn error of glycoprotein catabolism.

Maury CP.

J Inherit Metab Dis. 1982;5(4):192-6. Review.

PMID:
6820440
10.

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.

11.

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
12.

Aspartylglycosaminuria in Northern Norway in eight patients: clinical heterogeneity and variations with the diet.

Borud O, Strömme JH, Lie SO, Torp KH.

J Inherit Metab Dis. 1978;1(3):95-7.

PMID:
116085
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
14.

Metabolism of collagen in aspartylglycosaminuria: urinary excretion of hydroxyproline.

Näntö-Salonen K, Autio S, Härö E, Kivimäki T, Koskela SL, Näntö V, Penttinen R.

J Inherit Metab Dis. 1984;7(3):117-21.

PMID:
6438393
15.

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.

16.

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

Ikonen E, Peltonen L.

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

PMID:
1301945
17.

Ultrastructural findings of rectal and skin biopsies in adult GM1-gangliosidosis.

Ikeda S, Ushiyama M, Nakano T, Kikkawa T, Kondo K, Yanagisawa N.

Acta Pathol Jpn. 1986 Dec;36(12):1823-31.

PMID:
3103376
18.

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
19.

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.

PMID:
3228136
20.

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