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Items: 16


Serotonin as a putative scavenger of hypohalous acid in the brain.

Kalogiannis M, Delikatny EJ, Jeitner TM.

Biochim Biophys Acta. 2016 Apr;1862(4):651-61. doi: 10.1016/j.bbadis.2015.12.012. Epub 2015 Dec 14.


Cysteamine (Cystagon®) adherence in patients with cystinosis in Spain: successful in children and a challenge in adolescents and adults.

Ariceta G, Lara E, Camacho JA, Oppenheimer F, Vara J, Santos F, Muñoz MA, Cantarell C, Gil Calvo M, Romero R, Valenciano B, García-Nieto V, Sanahuja MJ, Crespo J, Justa ML, Urisarri A, Bedoya R, Bueno A, Daza A, Bravo J, Llamas F, Jiménez Del Cerro LA.

Nephrol Dial Transplant. 2015 Mar;30(3):475-80. doi: 10.1093/ndt/gfu329. Epub 2014 Oct 26.


Expanding rare disease drug trials based on shared molecular etiology.

Brooks PJ, Tagle DA, Groft S.

Nat Biotechnol. 2014 Jun;32(6):515-8. doi: 10.1038/nbt.2924. No abstract available.


Drug treatment of inborn errors of metabolism: a systematic review.

Alfadhel M, Al-Thihli K, Moubayed H, Eyaid W, Al-Jeraisy M.

Arch Dis Child. 2013 Jun;98(6):454-61. doi: 10.1136/archdischild-2012-303131. Epub 2013 Mar 26. Review.


Therapeutic approaches for lysosomal storage diseases.

Pastores GM.

Ther Adv Endocrinol Metab. 2010 Aug;1(4):177-88. doi: 10.1177/2042018810384429.


Cystinosis: the evolution of a treatable disease.

Nesterova G, Gahl WA.

Pediatr Nephrol. 2013 Jan;28(1):51-9. doi: 10.1007/s00467-012-2242-5. Epub 2012 Aug 18. Review.


Stable isotope gas chromatography-tandem mass spectrometry determination of aminoethylcysteine ketimine decarboxylated dimer in biological samples.

Tsikas D, Evans CE, Denton TT, Mitschke A, Gutzki FM, Pinto JT, Khomenko T, Szabo S, Cooper AJ.

Anal Biochem. 2012 Nov 1;430(1):4-15. doi: 10.1016/j.ab.2012.07.022. Epub 2012 Jul 31.


Cognition in nephropathic cystinosis: pattern of expression in heterozygous carriers.

Niemiec S, Ballantyne A, Trauner DA.

Am J Med Genet A. 2012 Aug;158A(8):1902-8. doi: 10.1002/ajmg.a.35467. Epub 2012 Jul 11.


Cysteamine suppresses invasion, metastasis and prolongs survival by inhibiting matrix metalloproteinases in a mouse model of human pancreatic cancer.

Fujisawa T, Rubin B, Suzuki A, Patel PS, Gahl WA, Joshi BH, Puri RK.

PLoS One. 2012;7(4):e34437. doi: 10.1371/journal.pone.0034437. Epub 2012 Apr 20.


Evaluation of topical cysteamine therapy in the CTNS(-/-) knockout mouse using in vivo confocal microscopy.

Simpson JL, Nien CJ, Flynn KJ, Jester JV.

Mol Vis. 2011;17:2649-54. Epub 2011 Oct 8.


A retro-inverso TAT-like peptide designed to deliver cysteamine to cells.

Lim J, Pellois JP, Simanek EE.

Bioorg Med Chem Lett. 2010 Nov 1;20(21):6321-3. doi: 10.1016/j.bmcl.2010.07.046. Epub 2010 Jul 15.


Mitochondrial autophagy promotes cellular injury in nephropathic cystinosis.

Sansanwal P, Yen B, Gahl WA, Ma Y, Ying L, Wong LJ, Sarwal MM.

J Am Soc Nephrol. 2010 Feb;21(2):272-83. doi: 10.1681/ASN.2009040383. Epub 2009 Dec 3.


Measurement of sulfur-containing compounds involved in the metabolism and transport of cysteamine and cystamine. Regional differences in cerebral metabolism.

Pinto JT, Khomenko T, Szabo S, McLaren GD, Denton TT, Krasnikov BF, Jeitner TM, Cooper AJ.

J Chromatogr B Analyt Technol Biomed Life Sci. 2009 Oct 15;877(28):3434-41. doi: 10.1016/j.jchromb.2009.05.041. Epub 2009 May 28.


Developmental changes in cerebral white matter microstructure in a disorder of lysosomal storage.

Bava S, Theilmann RJ, Sach M, May SJ, Frank LR, Hesselink JR, Vu D, Trauner DA.

Cortex. 2010 Feb;46(2):206-16. doi: 10.1016/j.cortex.2009.03.008. Epub 2009 Apr 5.


Improved biochemical strategies for targeted delivery of taxoids.

Ganesh T.

Bioorg Med Chem. 2007 Jun 1;15(11):3597-623. Epub 2007 Mar 18. Review.


Advances in genetics: what are the benefits for patients?

Munnich A.

J Med Genet. 2006 Jul;43(7):555-6. Epub 2005 Dec 9. Review. No abstract available.

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