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Items: 1 to 20 of 99

1.

Methods for assessing neurodevelopment in lysosomal storage diseases and related disorders: a multidisciplinary perspective.

Martin HR, Poe MD, Reinhartsen D, Pretzel RE, Roush J, Rosenberg A, Dusing SC, Escolar ML.

Acta Paediatr. 2008 Apr;97(457):69-75. doi: 10.1111/j.1651-2227.2008.00651.x. Review.

PMID:
18339192
2.

[Musculoskeletal manifestations in lysosomal storage diseases].

Kovac I.

Reumatizam. 2011;58(2):182-4. Review. Croatian.

PMID:
22232961
3.

Treatment of lysosomal storage disorders: successes and challenges.

Hollak CE, Wijburg FA.

J Inherit Metab Dis. 2014 Jul;37(4):587-98. doi: 10.1007/s10545-014-9718-3. Epub 2014 May 13. Review.

PMID:
24820227
4.

[Lysosomal storage diseases - update and new therapeutic options].

Schöpfer K, Miebach E, Beck M, Pitz S.

Klin Monbl Augenheilkd. 2011 Feb;228(2):144-60. doi: 10.1055/s-0028-1109958. Epub 2010 Mar 22. Review. German.

PMID:
20309790
5.

Gene therapy for lysosomal storage disorders.

Yew NS, Cheng SH.

Curr Opin Mol Ther. 2001 Aug;3(4):399-406. Review.

PMID:
11525564
6.

Prenatal alcohol and cocaine exposure: influences on cognition, speech, language, and hearing.

Cone-Wesson B.

J Commun Disord. 2005 Jul-Aug;38(4):279-302. Epub 2005 Apr 8.

PMID:
15862811
7.

Delivery of recombinant proteins via the cerebrospinal fluid as a therapy option for neurodegenerative lysosomal storage diseases.

Hemsley KM, Hopwood JJ.

Int J Clin Pharmacol Ther. 2009;47 Suppl 1:S118-23. Review.

PMID:
20040322
8.

Musculoskeletal complications encountered in the lysosomal storage disorders.

Pastores GM.

Best Pract Res Clin Rheumatol. 2008 Oct;22(5):937-47. doi: 10.1016/j.berh.2008.09.005. Review.

PMID:
19028373
9.

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
10.

Musculoskeletal manifestations of lysosomal storage disorders.

Aldenhoven M, Sakkers RJ, Boelens J, de Koning TJ, Wulffraat NM.

Ann Rheum Dis. 2009 Nov;68(11):1659-65. doi: 10.1136/ard.2008.095315. Review.

PMID:
19822711
11.

Therapeutic approaches for lysosomal storage diseases: a patent update.

Urbanelli L, Sagini K, Polidoro M, Brozzi A, Magini A, Emiliani C.

Recent Pat CNS Drug Discov. 2013 Aug;8(2):91-109. Review.

PMID:
23713988
12.

Stem cell therapies for the lysosomal storage diseases - the quintessential neurodegenerative diseases.

Schwartz PH, Brick DJ.

Curr Stem Cell Res Ther. 2008 May;3(2):88-98. Review.

PMID:
18473875
13.

[Treatment prospects of lysosomal storage disorders].

Reismann P, Tulassay Z.

Orv Hetil. 2008 Jun 22;149(25):1171-9. doi: 10.1556/OH.2008.28382. Review. Hungarian.

PMID:
18547894
14.

Enzyme replacement therapy and substrate reduction therapy in lysosomal storage disorders with neurological expression.

Valayannopoulos V.

Handb Clin Neurol. 2013;113:1851-7. doi: 10.1016/B978-0-444-59565-2.00055-1. Review.

PMID:
23622408
15.

New therapeutic prospects for the glycosphingolipid lysosomal storage diseases.

Platt FM, Butters TD.

Biochem Pharmacol. 1998 Aug 15;56(4):421-30. Review.

PMID:
9763217
16.

The status of hematopoietic stem cell transplantation in lysosomal storage disease.

Malatack JJ, Consolini DM, Bayever E.

Pediatr Neurol. 2003 Nov;29(5):391-403. Review.

PMID:
14684234
17.

[Therapy for systemic metabolic disorders based on the detection of basic corneal landmarks in childhood].

Lisch W, Pitz S, Geerling G.

Klin Monbl Augenheilkd. 2013 Jun;230(6):575-81. doi: 10.1055/s-0032-1328524. Epub 2013 Jun 21. Review. German.

PMID:
23794426
18.

Treating lysosomal storage disorders: current practice and future prospects.

Platt FM, Lachmann RH.

Biochim Biophys Acta. 2009 Apr;1793(4):737-45. doi: 10.1016/j.bbamcr.2008.08.009. Epub 2008 Sep 5. Review.

19.

Enzyme replacement and enhancement therapies: lessons from lysosomal disorders.

Desnick RJ, Schuchman EH.

Nat Rev Genet. 2002 Dec;3(12):954-66. Review. Erratum in: Nat Rev Genet. 2003 Feb;4(2):157..

PMID:
12459725
20.

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.

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