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Items: 1 to 20 of 123

1.

Insights into the Pathogenesis and Treatment of Krabbe Disease.

Bongarzone ER, Escolar ML, Gray SJ, Kafri T, Vite CH, Sands MS.

Pediatr Endocrinol Rev. 2016 Jun;13 Suppl 1:689-96. Review.

PMID:
27491217
2.

Neurodevelopmental Outcome after Hematopoietic Cell Transplantation in Inborn Errors of Metabolism: Current Considerations and Future Perspectives.

Boelens JJ, van Hasselt PM.

Neuropediatrics. 2016 Oct;47(5):285-92. doi: 10.1055/s-0036-1584602. Epub 2016 Jun 16. Review.

PMID:
27308871
3.

Ethical and policy issues in newborn screening of children for neurologic and developmental disorders.

Ross LF.

Pediatr Clin North Am. 2015 Jun;62(3):787-98. doi: 10.1016/j.pcl.2015.03.009. Epub 2015 Apr 7. Review.

PMID:
26022175
4.

History, genetic, and recent advances on Krabbe disease.

Graziano AC, Cardile V.

Gene. 2015 Jan 15;555(1):2-13. doi: 10.1016/j.gene.2014.09.046. Epub 2014 Sep 26. Review.

PMID:
25260228
5.

Experimental therapies in the murine model of globoid cell leukodystrophy.

Li Y, Sands MS.

Pediatr Neurol. 2014 Nov;51(5):600-6. doi: 10.1016/j.pediatrneurol.2014.08.003. Epub 2014 Aug 8. Review.

6.

Congenital genetic inborn errors of metabolism presenting as an adult or persisting into adulthood: neuroimaging in the more common or recognizable disorders.

Krishna SH, McKinney AM, Lucato LT.

Semin Ultrasound CT MR. 2014 Apr;35(2):160-91. doi: 10.1053/j.sult.2013.10.008. Epub 2013 Oct 23. Review.

PMID:
24745891
7.

[The world of galactose and glucose: pathogenesis and therapy of lysosomal diseases].

Suzuki Y.

No To Hattatsu. 2014 Mar;46(2):81-6. Review. Japanese. No abstract available.

PMID:
24738180
8.

Phenotypic variability of Krabbe disease across the lifespan.

Liao P, Gelinas J, Sirrs S.

Can J Neurol Sci. 2014 Jan;41(1):5-12. Review.

PMID:
24384330
9.

Lysosomal leukodystrophies: Krabbe disease and metachromatic leukodystrophy.

Kohlschütter A.

Handb Clin Neurol. 2013;113:1611-8. doi: 10.1016/B978-0-444-59565-2.00029-0. Review.

PMID:
23622382
10.

On the role of natural killer cells in neurodegenerative diseases.

Maghazachi AA.

Toxins (Basel). 2013 Feb 19;5(2):363-75. doi: 10.3390/toxins5020363. Review.

11.

Diagnostic difficulties in Krabbe disease: a report of two cases and review of literature.

Szymańska K, Ługowska A, Laure-Kamionowska M, Bekiesińska-Figatowska M, Gieruszczak-Białek D, Musielak M, Eichler S, Giese AK, Rolfs A.

Folia Neuropathol. 2012;50(4):346-56. Review.

12.

Advances and pitfalls of cell therapy in metabolic leukodystrophies.

Miranda CO, Brites P, Mendes Sousa M, Teixeira CA.

Cell Transplant. 2013;22(2):189-204. doi: 10.3727/096368912X656117. Epub 2012 Sep 21. Review.

PMID:
23006656
13.

Hematopoietic prostaglandin D synthase inhibitors.

Thurairatnam S.

Prog Med Chem. 2012;51:97-133. doi: 10.1016/B978-0-12-396493-9.00004-2. Review. No abstract available.

PMID:
22520473
14.

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
15.

Childhood leukodystrophies: a clinical perspective.

Kohlschütter A, Eichler F.

Expert Rev Neurother. 2011 Oct;11(10):1485-96. doi: 10.1586/ern.11.135. Review.

PMID:
21955203
16.

Gene therapy for leukodystrophies.

Biffi A, Aubourg P, Cartier N.

Hum Mol Genet. 2011 Apr 15;20(R1):R42-53. doi: 10.1093/hmg/ddr142. Epub 2011 Mar 31. Review.

PMID:
21459776
17.

Newborn screening for lysosomal storage disorders.

Nakamura K, Hattori K, Endo F.

Am J Med Genet C Semin Med Genet. 2011 Feb 15;157C(1):63-71. doi: 10.1002/ajmg.c.30291. Epub 2011 Feb 10. Review.

PMID:
21312327
18.

Dangerous and expensive screening and treatment for rare childhood diseases: the case of Krabbe disease.

Lantos JD.

Dev Disabil Res Rev. 2011;17(1):15-8. doi: 10.1002/ddrr.133. Review.

19.

The molecular basis of autosomal recessive diseases among the Arabs and Druze in Israel.

Zlotogora J.

Hum Genet. 2010 Nov;128(5):473-9. doi: 10.1007/s00439-010-0890-8. Epub 2010 Sep 18. Review.

PMID:
20852892
20.

Myelin lesions associated with lysosomal and peroxisomal disorders.

Faust PL, Kaye EM, Powers JM.

Expert Rev Neurother. 2010 Sep;10(9):1449-66. doi: 10.1586/ern.10.127. Review.

PMID:
20819015

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