PubMed

Moreno-Garcia MA, Rosenblatt DS, Jerome-Majewska LA.

Mol Genet Metab. 2012 Nov;107(3):368-74. doi: 10.1016/j.ymgme.2012.09.009. Epub 2012 Sep 10.

Vatanavicharn N, Champattanachai V, Liammongkolkul S, Sawangareetrakul P, Keeratichamroen S, Ketudat Cairns JR, Srisomsap C, Sathienkijkanchai A, Shotelersuk V, Kamolsilp M, Wattanasirichaigoon D, Svasti J, Wasant P.

Mol Genet Metab. 2012 Aug;106(4):424-9. doi: 10.1016/j.ymgme.2012.05.012. Epub 2012 May 29.

O'Shea CJ, Sloan JL, Wiggs EA, Pao M, Gropman A, Baker EH, Manoli I, Venditti CP, Snow J.

Pediatrics. 2012 Jun;129(6):e1541-51. doi: 10.1542/peds.2011-1715. Epub 2012 May 21.

Liu SJ, Zhi H, Chen PZ, Chen W, Lu F, Ma GS, Dai JC, Shen C, Liu NF, Hu ZB, Wang H, Shen HB.

Chin Med J (Engl). 2012 Mar;125(5):801-6.

Clothier JC, Chakrapani A, Preece MA, McKiernan P, Gupta R, Macdonald A, Hulton SA.

J Inherit Metab Dis. 2011 Jun;34(3):695-700. doi: 10.1007/s10545-011-9303-y. Epub 2011 Mar 17.

Jorge-Finnigan A, Gámez A, Pérez B, Ugarte M, Richard E.

Biochim Biophys Acta. 2010 Nov;1802(11):959-67. doi: 10.1016/j.bbadis.2010.08.002. Epub 2010 Aug 6.

Jorge-Finnigan A, Aguado C, Sánchez-Alcudia R, Abia D, Richard E, Merinero B, Gámez A, Banerjee R, Desviat LR, Ugarte M, Pérez B.

Hum Mutat. 2010 Sep;31(9):1033-42. doi: 10.1002/humu.21307.

Pérez B, Angaroni C, Sánchez-Alcudia R, Merinero B, Pérez-Cerdá C, Specola N, Rodríguez-Pombo P, Wajner M, de Kremer RD, Cornejo V, Desviat LR, Ugarte M.

J Inherit Metab Dis. 2010 Oct;33(Suppl 2):S307-14. doi: 10.1007/s10545-010-9116-4. Epub 2010 Jun 15.

Fogarty MP, Xiao R, Prokunina-Olsson L, Scott LJ, Mohlke KL.

Hum Mol Genet. 2010 May 15;19(10):1921-9. doi: 10.1093/hmg/ddq067. Epub 2010 Feb 16.

Zhang J, Wu X, Padovani D, Schubert HL, Gravel RA.

Mol Genet Metab. 2009 Nov;98(3):278-84. doi: 10.1016/j.ymgme.2009.06.014. Epub 2009 Jun 27.

Fowler B, Leonard JV, Baumgartner MR.

J Inherit Metab Dis. 2008 Jun;31(3):350-60. doi: 10.1007/s10545-008-0839-4. Epub 2008 Jun 19. Review.

Merinero B, Pérez B, Pérez-Cerdá C, Rincón A, Desviat LR, Martínez MA, Sala PR, García MJ, Aldamiz-Echevarría L, Campos J, Cornejo V, Del Toro M, Mahfoud A, Martínez-Pardo M, Parini R, Pedrón C, Peña-Quintana L, Pérez M, Pourfarzam M, Ugarte M.

J Inherit Metab Dis. 2008 Feb;31(1):55-66. Epub 2007 Oct 22.

Gradinger AB, Bélair C, Worgan LC, Li CD, Lavallée J, Roquis D, Watkins D, Rosenblatt DS.

Hum Mutat. 2007 Oct;28(10):1045.

Hörster F, Baumgartner MR, Viardot C, Suormala T, Burgard P, Fowler B, Hoffmann GF, Garbade SF, Kölker S, Baumgartner ER.

Pediatr Res. 2007 Aug;62(2):225-30.

Erger KE, Conlon TJ, Leal NA, Zori R, Bobik TA, Flotte TR.

J Gene Med. 2007 Jun;9(6):462-9.

Keeratichamroen S, Cairns JR, Sawangareetrakul P, Liammongkolkul S, Champattanachai V, Srisomsap C, Kamolsilp M, Wasant P, Svasti J.

Biochem Genet. 2007 Jun;45(5-6):421-30. Epub 2007 Apr 5.

Lempp TJ, Suormala T, Siegenthaler R, Baumgartner ER, Fowler B, Steinmann B, Baumgartner MR.

Mol Genet Metab. 2007 Mar;90(3):284-90. Epub 2006 Nov 20.

Chandler RJ, Aswani V, Tsai MS, Falk M, Wehrli N, Stabler S, Allen R, Sedensky M, Kazazian HH, Venditti CP.

Mol Genet Metab. 2006 Sep-Oct;89(1-2):64-73. Epub 2006 Jul 14.

Bikker H, Bakker HD, Abeling NG, Poll-The BT, Kleijer WJ, Rosenblatt DS, Waterham HR, Wanders RJ, Duran M.

Hum Mutat. 2006 Jul;27(7):640-3.

Zhang J, Dobson CM, Wu X, Lerner-Ellis J, Rosenblatt DS, Gravel RA.

Mol Genet Metab. 2006 Apr;87(4):315-22. Epub 2006 Jan 24.