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Results: 1 to 20 of 21

1.

Lysosomal disorders associated with leukoencephalopathy.

Renaud DL.

Semin Neurol. 2012 Feb;32(1):51-4. doi: 10.1055/s-0032-1306386. Epub 2012 Mar 15. Review.

PMID:
22422206
2.

Molecular and cellular basis of lysosomal transmembrane protein dysfunction.

Ruivo R, Anne C, Sagné C, Gasnier B.

Biochim Biophys Acta. 2009 Apr;1793(4):636-49. doi: 10.1016/j.bbamcr.2008.12.008. Epub 2008 Dec 24. Review.

3.

Glycosphingolipid disorders of the brain.

Boomkamp SD, Butters TD.

Subcell Biochem. 2008;49:441-67. doi: 10.1007/978-1-4020-8831-5_17. Review.

PMID:
18751922
4.

Molecular physiology and pathophysiology of lysosomal membrane transporters.

Sagné C, Gasnier B.

J Inherit Metab Dis. 2008 Apr;31(2):258-66. doi: 10.1007/s10545-008-0879-9. Epub 2008 Apr 15. Review.

PMID:
18425435
5.

The inborn errors of sialic acid metabolism and their laboratory investigation.

Gopaul KP, Crook MA.

Clin Lab. 2006;52(3-4):155-69. Review.

PMID:
16584062
6.

Disorders of free sialic acid.

Suwannarat P.

Mol Genet Metab. 2005 Jun;85(2):85-7. Review. No abstract available.

PMID:
15973781
7.

Sialic acid storage disease and related disorders.

Strehle EM.

Genet Test. 2003 Summer;7(2):113-21. Review.

PMID:
12885332
8.

At the acidic edge: emerging functions for lysosomal membrane proteins.

Eskelinen EL, Tanaka Y, Saftig P.

Trends Cell Biol. 2003 Mar;13(3):137-45. Review.

PMID:
12628346
9.

Biosynthesis of lysosomal proteinases in health and disease.

Mach L.

Biol Chem. 2002 May;383(5):751-6. Review.

PMID:
12108539
10.

[Sialic acid storage disease].

Ohno K.

Ryoikibetsu Shokogun Shirizu. 2000;(29 Pt 4):482-3. Review. Japanese. No abstract available.

PMID:
11032001
11.

Hydrops fetalis: lysosomal storage disorders in extremis.

Stone DL, Sidransky E.

Adv Pediatr. 1999;46:409-40. Review.

PMID:
10645471
12.

Occurrence of sialic acids in healthy humans and different disorders.

Sillanaukee P, Pönniö M, Jääskeläinen IP.

Eur J Clin Invest. 1999 May;29(5):413-25. Review.

PMID:
10354198
13.

Clinical spectrum of infantile free sialic acid storage disease.

Lemyre E, Russo P, Melançon SB, Gagné R, Potier M, Lambert M.

Am J Med Genet. 1999 Feb 19;82(5):385-91. Review.

PMID:
10069709
14.

Gangliosides and autoimmune diabetes.

Misasi R, Dionisi S, Farilla L, Carabba B, Lenti L, Di Mario U, Dotta F.

Diabetes Metab Rev. 1997 Sep;13(3):163-79. Review.

PMID:
9307889
15.

[Lysosomal membrane transport disorders--cystinosis and sialic acid storage disorders (Salla disease, ISSD)].

Yano T, Ohno K.

Nihon Rinsho. 1995 Dec;53(12):3068-71. Review. Japanese.

PMID:
8577060
16.

Infantile sialic acid storage disease: a rare cause of cytoplasmic vacuolation in pediatric patients.

Hale LP, van de Ven CJ, Wenger DA, Bradford WD, Kahler SG.

Pediatr Pathol Lab Med. 1995 May-Jun;15(3):443-53. Review.

PMID:
8597831
17.

[Strategies for the diagnosis of lysosomal storage diseases: symptoms, methods and samples].

Paschke E, Stöckler S.

Wien Klin Wochenschr. 1992;104(21):658-64. Review. German.

PMID:
1475970
18.

Sialic acid storage disorders: observations on clinical and biochemical variation.

Mancini GM, Verheijen FW, Beerens CE, Renlund M, Aula P.

Dev Neurosci. 1991;13(4-5):327-30. Review.

PMID:
1817039
19.

Disorders of glycoprotein degradation.

Cantz M, Ulrich-Bott B.

J Inherit Metab Dis. 1990;13(4):523-37. Review.

PMID:
2122119
20.

Infantile sialic acid storage disease associated with renal disease.

Pueschel SM, O'Shea PA, Alroy J, Ambler MW, Dangond F, Daniel PF, Kolodny EH.

Pediatr Neurol. 1988 Jul-Aug;4(4):207-12. Review.

PMID:
3072006
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