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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. Among authors: huizing m. Ann Neurol. 2009 Jun;65(6):753-7. doi: 10.1002/ana.21624. Ann Neurol. 2009. PMID: 19557856 Free PMC article.
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. Among authors: huizing m. Brain. 2009 Mar;132(Pt 3):801-9. doi: 10.1093/brain/awn355. Epub 2009 Jan 19. Brain. 2009. PMID: 19153153 Free PMC article.
Free sialic acid storage disorder: Progress and promise.
Huizing M, Hackbarth ME, Adams DR, Wasserstein M, Patterson MC, Walkley SU, Gahl WA; FSASD Consortium. Huizing M, et al. Neurosci Lett. 2021 Jun 11;755:135896. doi: 10.1016/j.neulet.2021.135896. Epub 2021 Apr 20. Neurosci Lett. 2021. PMID: 33862140 Free PMC article. Review.
Association of 3-methylglutaconic aciduria with sensori-neural deafness, encephalopathy, and Leigh-like syndrome (MEGDEL association) in four patients with a disorder of the oxidative phosphorylation.
Wortmann S, Rodenburg RJ, Huizing M, Loupatty FJ, de Koning T, Kluijtmans LA, Engelke U, Wevers R, Smeitink JA, Morava E. Wortmann S, et al. Among authors: huizing m. Mol Genet Metab. 2006 May;88(1):47-52. doi: 10.1016/j.ymgme.2006.01.013. Epub 2006 Mar 9. Mol Genet Metab. 2006. PMID: 16527507
Recurrent rhabdomyolysis in a patient with oculocutaneous albinism type 1 and platelet storage-pool deficiency.
Contopoulos-Ioannidis D, Evangeliou A, ter Laak H, de Vries B, Pfundt R, Scheffer H, Smeitink J, Tzoufi M, Makis A, Marinos E, Hess R, Adams D, Huizing M, Morava E. Contopoulos-Ioannidis D, et al. Among authors: huizing m. Am J Med Genet A. 2008 Dec 1;146A(23):3100-3. doi: 10.1002/ajmg.a.32569. Am J Med Genet A. 2008. PMID: 19006216 Free PMC article. No abstract available.
279 results