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Life with too much polyprenol: polyprenol reductase deficiency.
Gründahl JE, Guan Z, Rust S, Reunert J, Müller B, Du Chesne I, Zerres K, Rudnik-Schöneborn S, Ortiz-Brüchle N, Häusler MG, Siedlecka J, Swiezewska E, Raetz CR, Marquardt T. Gründahl JE, et al. Mol Genet Metab. 2012 Apr;105(4):642-51. doi: 10.1016/j.ymgme.2011.12.017. Epub 2011 Dec 29. Mol Genet Metab. 2012. PMID: 22304929 Free PMC article.
Pregnancy and spinal muscular atrophy.
Rudnik-Schöneborn S, Zerres K, Ignatius J, Rietschel M. Rudnik-Schöneborn S, et al. J Neurol. 1992 Jan;239(1):26-30. doi: 10.1007/BF00839207. J Neurol. 1992. PMID: 1541965 Review.
Heterogeneity in proximal spinal muscular atrophy.
Zerres K, Rudnik-Schöneborn S, Rietschel M. Zerres K, et al. Lancet. 1990 Sep 22;336(8717):749-50. doi: 10.1016/0140-6736(90)92243-b. Lancet. 1990. PMID: 1975919 No abstract available.
198 results