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Items: 1 to 20 of 48

1.

Prevalence of lysosomal storage disorders.

Meikle PJ, Hopwood JJ, Clague AE, Carey WF.

JAMA. 1999 Jan 20;281(3):249-54.

PMID:
9918480
2.

Lysosomal storage disorders and Parkinson's disease: Gaucher disease and beyond.

Shachar T, Lo Bianco C, Recchia A, Wiessner C, Raas-Rothschild A, Futerman AH.

Mov Disord. 2011 Aug 1;26(9):1593-604. doi: 10.1002/mds.23774. Epub 2011 May 26. Review.

PMID:
21618611
3.

[Lysosomal storage diseases].

Manger B.

Z Rheumatol. 2010 Aug;69(6):527-38. doi: 10.1007/s00393-010-0627-z. Review. German.

PMID:
20532791
4.

Enzyme reconstitution/replacement therapy for lysosomal storage diseases.

Burrow TA, Hopkin RJ, Leslie ND, Tinkle BT, Grabowski GA.

Curr Opin Pediatr. 2007 Dec;19(6):628-35. Review.

PMID:
18025928
5.

Lysosomal storage disorders: emerging therapeutic options require early diagnosis.

Meikle PJ, Hopwood JJ.

Eur J Pediatr. 2003 Dec;162 Suppl 1:S34-7. Epub 2003 Nov 11. Review.

PMID:
14610674
6.

Hydrops fetalis: lysosomal storage disorders in extremis.

Stone DL, Sidransky E.

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

PMID:
10645471
7.

Lysosomal storage disorders in the newborn.

Staretz-Chacham O, Lang TC, LaMarca ME, Krasnewich D, Sidransky E.

Pediatrics. 2009 Apr;123(4):1191-207. doi: 10.1542/peds.2008-0635. Review.

8.

Lysosomal storage disorders: molecular basis and laboratory testing.

Filocamo M, Morrone A.

Hum Genomics. 2011 Mar;5(3):156-69. Review.

9.

Lysosomal storage disorders: old diseases, present and future challenges.

Klein AD, Futerman AH.

Pediatr Endocrinol Rev. 2013 Nov;11 Suppl 1:59-63. Review.

PMID:
24380123
10.

Sphingolipid lysosomal storage disorders.

Platt FM.

Nature. 2014 Jun 5;510(7503):68-75. doi: 10.1038/nature13476. Review.

PMID:
24899306
11.

[Lysosomal storage diseases--an overview].

Kloska A, Tylki-SzymaƄska A, Wegrzyn G.

Postepy Biochem. 2011;57(2):128-32. Review. Polish.

PMID:
21913413
12.
13.

Clarifying lysosomal storage diseases.

Schultz ML, Tecedor L, Chang M, Davidson BL.

Trends Neurosci. 2011 Aug;34(8):401-10. doi: 10.1016/j.tins.2011.05.006. Epub 2011 Jun 30. Review.

14.

Neurological manifestations in lysosomal storage disorders - from pathology to first therapeutic possibilities.

Hoffmann B, Mayatepek E.

Neuropediatrics. 2005 Oct;36(5):285-9. Review.

PMID:
16217702
15.

[Diagnosis of lysosomal storage diseases with fetal presentation].

Bouvier R, Maire I.

Ann Pathol. 1997 Sep;17(4):277-80. Review. French.

PMID:
9409888
16.

The cell biology of disease: lysosomal storage disorders: the cellular impact of lysosomal dysfunction.

Platt FM, Boland B, van der Spoel AC.

J Cell Biol. 2012 Nov 26;199(5):723-34. doi: 10.1083/jcb.201208152. Review.

17.

New prospects for the treatment of lysosomal storage diseases.

Schiffmann R, Brady RO.

Drugs. 2002;62(5):733-42. Review.

PMID:
11929328
18.

Epidemiology and diagnosis of lysosomal storage disorders; challenges of screening.

Kingma SD, Bodamer OA, Wijburg FA.

Best Pract Res Clin Endocrinol Metab. 2015 Mar;29(2):145-57. doi: 10.1016/j.beem.2014.08.004. Epub 2014 Aug 26. Review.

PMID:
25987169
19.

[Gene diagnosis of lysosomal diseases].

Suzuki Y.

Nihon Rinsho. 1995 Dec;53(12):2921-5. Review. Japanese.

PMID:
8577036
20.

The leukodystrophies.

Gordon HB, Letsou A, Bonkowsky JL.

Semin Neurol. 2014 Jul;34(3):312-20. doi: 10.1055/s-0034-1386769. Epub 2014 Sep 5. Review.

PMID:
25192509
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