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Results: 11

Related Articles by Review for PubMed (Select 1703489)

1.

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.

2.
3.

Aspartylglycosaminuria: biochemistry and molecular biology.

Aronson NN Jr.

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

4.

[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
5.

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

Ikonen E, Peltonen L.

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

PMID:
1301945
6.

Novel mutation (Gly280Ala) in the ATP-binding domain of glycerol kinase causes severe hyperglycerolemia.

Wibmer T, Otto J, Parhofer KG, Otto C.

Exp Clin Endocrinol Diabetes. 2005 Jul;113(7):396-403. Review.

PMID:
16025401
7.

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
8.

Progressive nature of aspartylglucosaminuria.

Arvio P, Arvio M.

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

PMID:
12022293
9.

[Disorders of glycoprotein degradation].

Yoshida K, Yanagisawa N.

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

PMID:
8577045
10.
11.

[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
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