PubMed

Lei HL, Ye J, Qiu WJ, Zhang HW, Han LS, Wang Y, Gu XF.

World J Pediatr. 2012 Nov;8(4):359-62. doi: 10.1007/s12519-012-0382-0. Epub 2012 Nov 15.

Sperb F, Vairo F, Burin M, Mayer FQ, Matte U, Giugliani R.

Gene. 2013 Jan 1;512(1):113-6. doi: 10.1016/j.gene.2012.09.106. Epub 2012 Oct 6.

Rigat BA, Tropak MB, Buttner J, Crushell E, Benedict D, Callahan JW, Martin DR, Mahuran DJ.

Mol Genet Metab. 2012 Sep;107(1-2):203-12. doi: 10.1016/j.ymgme.2012.06.007. Epub 2012 Jun 19.

Pierson TM, Adams DA, Markello T, Golas G, Yang S, Sincan M, Simeonov DR, Fuentes Fajardo K, Hansen NF, Cherukuri PF, Cruz P, Teer JK, Mullikin JC; NISC Comparative Sequencing Program, Boerkoel CF, Gahl WA, Tifft CJ.

Neurology. 2012 Jul 10;79(2):123-6. doi: 10.1212/WNL.0b013e31825f047a. Epub 2012 Jun 6.

Aguilar-Moncayo M, Takai T, Higaki K, Mena-Barragán T, Hirano Y, Yura K, Li L, Yu Y, Ninomiya H, García-Moreno MI, Ishii S, Sakakibara Y, Ohno K, Nanba E, Ortiz Mellet C, García Fernández JM, Suzuki Y.

Chem Commun (Camb). 2012 Jul 4;48(52):6514-6. doi: 10.1039/c2cc32065g. Epub 2012 May 23.

Ong MT, Chow GC, Morton RE.

Pediatr Neurol. 2012 Mar;46(3):178-81. doi: 10.1016/j.pediatrneurol.2011.12.005. Erratum in: Pediatr Neurol. 2012 May;46(5):336.

Celtikçi B, Aydın Hİ, Sivri S, Sönmez M, Topçu M, Ozkara HA.

Clin Biochem. 2012 May;45(7-8):571-4. doi: 10.1016/j.clinbiochem.2011.12.019. Epub 2012 Jan 3.

Ohto U, Usui K, Ochi T, Yuki K, Satow Y, Shimizu T.

J Biol Chem. 2012 Jan 13;287(3):1801-12. doi: 10.1074/jbc.M111.293795. Epub 2011 Nov 28.

Chevalier C, Detry G.

Br J Haematol. 2012 Feb;156(3):293. doi: 10.1111/j.1365-2141.2011.08929.x. Epub 2011 Nov 7. No abstract available.

Fantur KM, Wrodnigg TM, Stütz AE, Pabst BM, Paschke E.

J Inherit Metab Dis. 2012 May;35(3):495-503. doi: 10.1007/s10545-011-9409-2. Epub 2011 Oct 28.

Fröhlich RF, Fantur K, Furneaux RH, Paschke E, Stütz AE, Wicki J, Withers SG, Wrodnigg TM.

Bioorg Med Chem Lett. 2011 Nov 15;21(22):6872-5. doi: 10.1016/j.bmcl.2011.09.012. Epub 2011 Sep 10.

Nada R, Gupta K, Lal SB, Vasishta RK.

Metab Brain Dis. 2011 Dec;26(4):307-10. doi: 10.1007/s11011-011-9258-6. Epub 2011 Jul 29.

Fröhlich RF, Furneaux RH, Mahuran DJ, Saf R, Stütz AE, Tropak MB, Wicki J, Withers SG, Wrodnigg TM.

Carbohydr Res. 2011 Sep 6;346(12):1592-8. doi: 10.1016/j.carres.2011.05.010. Epub 2011 May 24.

Takamura A, Higaki K, Ninomiya H, Takai T, Matsuda J, Iida M, Ohno K, Suzuki Y, Nanba E.

J Neurochem. 2011 Aug;118(3):399-406. doi: 10.1111/j.1471-4159.2011.07310.x. Epub 2011 Jun 17.

Caciotti A, Garman SC, Rivera-Colón Y, Procopio E, Catarzi S, Ferri L, Guido C, Martelli P, Parini R, Antuzzi D, Battini R, Sibilio M, Simonati A, Fontana E, Salviati A, Akinci G, Cereda C, Dionisi-Vici C, Deodato F, d'Amico A, d'Azzo A, Bertini E, Filocamo M, Scarpa M, di Rocco M, Tifft CJ, Ciani F, Gasperini S, Pasquini E, Guerrini R, Donati MA, Morrone A.

Biochim Biophys Acta. 2011 Jul;1812(7):782-90. doi: 10.1016/j.bbadis.2011.03.018. Epub 2011 Apr 7.

Yang CF, Wu JY, Tsai FJ.

J Biomed Sci. 2010 Sep 30;17:79. doi: 10.1186/1423-0127-17-79.

Schitter G, Steiner AJ, Pototschnig G, Scheucher E, Thonhofer M, Tarling CA, Withers SG, Fantur K, Paschke E, Mahuran DJ, Rigat BA, Tropak MB, Illaszewicz C, Saf R, Stütz AE, Wrodnigg TM.

Chembiochem. 2010 Sep 24;11(14):2026-33. doi: 10.1002/cbic.201000192.

Sharma S, Sankhyan N, Kabra M, Gulati S.

Neurology. 2010 Mar 23;74(12):e47. doi: 10.1212/WNL.0b013e3181d5a44e. No abstract available.

Hofer D, Paul K, Fantur K, Beck M, Roubergue A, Vellodi A, Poorthuis BJ, Michelakakis H, Plecko B, Paschke E.

Clin Genet. 2010 Sep;78(3):236-46. doi: 10.1111/j.1399-0004.2010.01379.x. Epub 2010 Feb 11.

Morita M, Saito S, Ikeda K, Ohno K, Sugawara K, Suzuki T, Togawa T, Sakuraba H.

J Hum Genet. 2009 Sep;54(9):510-5. doi: 10.1038/jhg.2009.70. Epub 2009 Jul 31.