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Items: 18

1.

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
2.
3.

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

Ikonen E, Peltonen L.

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

PMID:
1301945
4.

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
5.

Aspartylglycosaminuria: biochemistry and molecular biology.

Aronson NN Jr.

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

6.

Aspartylglucosaminuria (AGU): protein and gene structure of normal and mutated aspartylglucosaminidase.

Halila R, Ikonen E, Tollersrud O, Syvänen AC, Enomaa N, Peltonen L.

Biochem Med Metab Biol. 1993 Aug;50(1):1-8. Review. No abstract available.

PMID:
8373629
7.

[Aspartylglucosaminuria].

Yamaguchi S.

Ryoikibetsu Shokogun Shirizu. 1998;(19 Pt 2):466-8. Review. Japanese. No abstract available.

PMID:
9645112
8.

Progressive nature of aspartylglucosaminuria.

Arvio P, Arvio M.

Acta Paediatr. 2002;91(3):255-7. Review.

PMID:
12022293
9.

Aspartylglycosaminuria: an inborn error of glycoprotein catabolism.

Maury CP.

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

PMID:
6820440
10.

[A family with two children diagnosed with aspartylglucosaminuria-case report and literature review].

Liu Y, Zou L, Meng Y, Zhang Y, Shi X, Ju J, Yang G, Hu L, Chen X.

Zhonghua Er Ke Za Zhi. 2014 Jun;52(6):455-9. Review. Chinese.

PMID:
25190167
11.
12.

[Disorders of glycoprotein degradation].

Yoshida K, Yanagisawa N.

Nihon Rinsho. 1995 Dec;53(12):2973-81. Review. Japanese.

PMID:
8577045
13.

Molecular background of the Finnish disease heritage.

Peltonen L.

Ann Med. 1997 Dec;29(6):553-6. Review.

PMID:
9562523
14.

[Molecular genetics of aspartylglucosaminuria].

Palotie L, Ikonen E, Syvänen AC, Halila R, Enomaa N, Heiskanen T, Grön K, Aula P.

Duodecim. 1991;107(23-24):1916-25. Review. Finnish. No abstract available.

PMID:
1366100
15.

Autosomal recessive cornea plana. A clinical and genetic study of 78 cases in Finland.

Forsius H, Damsten M, Eriksson AW, Fellman J, Lindh S, Tahvanainen E.

Acta Ophthalmol Scand. 1998 Apr;76(2):196-203. Review.

16.

The molecular genetic basis and diagnosis of familial hypercholesterolemia in Denmark.

Jensen HK.

Dan Med Bull. 2002 Nov;49(4):318-45. Review.

PMID:
12553167
17.

Prevention of lysosomal storage disorders in Israel.

Bach G, Zeigler M, Zlotogora J.

Mol Genet Metab. 2007 Apr;90(4):353-7. Epub 2006 Dec 18. Review.

PMID:
17178249
18.

[Aspartylglucosaminuria: a point mutation as a cause of mental defect].

Ikonen E, Palotie L.

Duodecim. 1994;110(7):667-73. Review. Finnish. No abstract available.

PMID:
8542821
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