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Page 1
Free sialic acid storage disease without sialuria.
Mochel F, Yang B, Barritault J, Thompson JN, Engelke UF, McNeill NH, Benko WS, Kaneski CR, Adams DR, Tsokos M, Abu-Asab M, Huizing M, Seguin F, Wevers RA, Ding J, Verheijen FW, Schiffmann R. Mochel F, et al. Ann Neurol. 2009 Jun;65(6):753-7. doi: 10.1002/ana.21624. Ann Neurol. 2009. PMID: 19557856 Free PMC article.
Muscle coenzyme Q10 deficiencies in ataxia with oculomotor apraxia 1.
Le Ber I, Dubourg O, Benoist JF, Jardel C, Mochel F, Koenig M, Brice A, Lombès A, Dürr A. Le Ber I, et al. Among authors: mochel f. Neurology. 2007 Jan 23;68(4):295-7. doi: 10.1212/01.wnl.0000252366.10731.43. Neurology. 2007. PMID: 17242337
Cerebellar ataxia with elevated cerebrospinal free sialic acid (CAFSA).
Mochel F, Sedel F, Vanderver A, Engelke UF, Barritault J, Yang BZ, Kulkarni B, Adams DR, Clot F, Ding JH, Kaneski CR, Verheijen FW, Smits BW, Seguin F, Brice A, Vanier MT, Huizing M, Schiffmann R, Durr A, Wevers RA. Mochel F, et al. Brain. 2009 Mar;132(Pt 3):801-9. doi: 10.1093/brain/awn355. Epub 2009 Jan 19. Brain. 2009. PMID: 19153153 Free PMC article.
Mitochondrial involvement and erythronic acid as a novel biomarker in transaldolase deficiency.
Engelke UF, Zijlstra FS, Mochel F, Valayannopoulos V, Rabier D, Kluijtmans LA, Perl A, Verhoeven-Duif NM, de Lonlay P, Wamelink MM, Jakobs C, Morava E, Wevers RA. Engelke UF, et al. Among authors: mochel f. Biochim Biophys Acta. 2010 Nov;1802(11):1028-35. doi: 10.1016/j.bbadis.2010.06.007. Epub 2010 Jun 18. Biochim Biophys Acta. 2010. PMID: 20600873 Free PMC article.
206 results