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Items: 6

1.

Early initiation of enzyme replacement therapy improves metabolic correction in the brain tissue of aspartylglycosaminuria mice.

Dunder U, Valtonen P, Kelo E, Mononen I.

J Inherit Metab Dis. 2010 Oct;33(5):611-7. doi: 10.1007/s10545-010-9158-7. Epub 2010 Jul 6.

PMID:
20607610
2.

Glycosylasparaginase activity requires the alpha-carboxyl group, but not the alpha-amino group, on N(4)-(2-Acetamido-2-deoxy-beta-D-glucopyranosyl)-L-asparagine.

Risley JM, Huang DH, Kaylor JJ, Malik JJ, Xia YQ, York WM.

Arch Biochem Biophys. 2001 Jul 15;391(2):165-70.

PMID:
11437347
3.

Wide scope prenatal diagnosis at Kuopio University Hospital 1997-1998: integration of gene tests and fetal karyotyping.

Kallinen J, Marin K, Heinonen S, Mannermaa A, Palotie A, Ryynänen M.

BJOG. 2001 May;108(5):505-9.

4.

A population-based study on the causes of mild and severe mental retardation.

Matilainen R, Airaksinen E, Mononen T, Launiala K, Kääriäinen R.

Acta Paediatr. 1995 Mar;84(3):261-6.

PMID:
7780246
5.

Aspartylglycosaminuria in a non-Finnish patient caused by a donor splice mutation in the glycoasparaginase gene.

Mononen I, Heisterkamp N, Kaartinen V, Mononen T, Williams JC, Groffen J.

J Biol Chem. 1992 Feb 15;267(5):3196-9.

6.

High prevalence of aspartylglycosaminuria among school-age children in eastern Finland.

Mononen T, Mononen I, Matilainen R, Airaksinen E.

Hum Genet. 1991 Jul;87(3):266-8.

PMID:
1864600

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