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Results: 13

1.

Oligosaccharide analysis in urine by maldi-tof mass spectrometry for the diagnosis of lysosomal storage diseases.

Xia B, Asif G, Arthur L, Pervaiz MA, Li X, Liu R, Cummings RD, He M.

Clin Chem. 2013 Sep;59(9):1357-68. doi: 10.1373/clinchem.2012.201053. Epub 2013 May 15.

PMID:
23676310
[PubMed - indexed for MEDLINE]
2.

Determination of sialylated and neutral oligosaccharides in urine by mass spectrometry.

Clements PR.

Curr Protoc Hum Genet. 2012 Jan;Chapter 17:Unit17.10. doi: 10.1002/0471142905.hg1710s72.

PMID:
22241656
[PubMed - indexed for MEDLINE]
3.

Sleep-related hypermotor seizures in aspartylglucosaminuria: a case report.

Ambrosetto G, Santucci M.

Epilepsia. 2009 Jun;50(6):1638-40. doi: 10.1111/j.1528-1167.2008.01991.x. Epub 2009 Jan 21.

PMID:
19175389
[PubMed - indexed for MEDLINE]
4.

Structural basis of aspartylglucosaminuria.

Saito S, Ohno K, Sugawara K, Suzuki T, Togawa T, Sakuraba H.

Biochem Biophys Res Commun. 2008 Dec 26;377(4):1168-72. doi: 10.1016/j.bbrc.2008.10.142. Epub 2008 Nov 4.

PMID:
18992224
[PubMed - indexed for MEDLINE]
5.

Bilateral pulvinar signal intensity decrease on T2-weighted images in patients with aspartylglucosaminuria.

Autti T, Lönnqvist T, Joensuu R.

Acta Radiol. 2008 Jul;49(6):687-92. doi: 10.1080/02841850802065000.

PMID:
18568562
[PubMed - indexed for MEDLINE]
6.

Decreased T2 signal in the thalami may be a sign of lysosomal storage disease.

Autti T, Joensuu R, Aberg L.

Neuroradiology. 2007 Jul;49(7):571-8. Epub 2007 Mar 3. Review.

PMID:
17334752
[PubMed - indexed for MEDLINE]
7.

Sleep disturbances in aspartylglucosaminuria (AGU): a questionnaire study.

Lindblom N, Kivinen S, Heiskala H, Laakso ML, Kaski M.

J Inherit Metab Dis. 2006 Oct;29(5):637-46. Epub 2006 Aug 30.

PMID:
16944277
[PubMed - indexed for MEDLINE]
8.

Allogeneic hematopoietic stem cell transplantation for inherited disorders: experience in a single center.

Ringdén O, Remberger M, Svahn BM, Barkholt L, Mattsson J, Aschan J, Le Blanc K, Gustafsson B, Hassan Z, Omazic B, Svenberg P, Solders G, von Döbeln U, Winiarski J, Ljungman P, Malm G.

Transplantation. 2006 Mar 15;81(5):718-25.

PMID:
16534474
[PubMed - indexed for MEDLINE]
9.

Use of nonviral promoters in adenovirus-mediated gene therapy: reduction of lysosomal storage in the aspartylglucosaminuria mouse.

Virta S, Rapola J, Jalanko A, Laine M.

J Gene Med. 2006 Jun;8(6):699-706.

PMID:
16518877
[PubMed - indexed for MEDLINE]
10.

Reduction in head size in patients with aspartylglucosaminuria.

Arvio M, Arvio P, Hurmerinta K, Pirinen S, Sillanpää M.

Acta Neurol Scand. 2005 Nov;112(5):335-7.

PMID:
16218917
[PubMed - indexed for MEDLINE]
11.

Determination of oligosaccharides and glycolipids in amniotic fluid by electrospray ionisation tandem mass spectrometry: in utero indicators of lysosomal storage diseases.

Ramsay SL, Maire I, Bindloss C, Fuller M, Whitfield PD, Piraud M, Hopwood JJ, Meikle PJ.

Mol Genet Metab. 2004 Nov;83(3):231-8.

PMID:
15542394
[PubMed - indexed for MEDLINE]
12.

Allogeneic stem cell transplantation for the treatment of lysosomal and peroxisomal metabolic diseases.

Krivit W.

Springer Semin Immunopathol. 2004 Nov;26(1-2):119-32. Epub 2004 Sep 25. Review.

PMID:
15452666
[PubMed - indexed for MEDLINE]
13.

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
[PubMed - indexed for MEDLINE]

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