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Polymerase gamma deficiency (POLG): clinical course in a child with a two stage evolution from infantile myocerebrohepatopathy spectrum to an Alpers syndrome and neuropathological findings of Leigh's encephalopathy.
Scalais E, Francois B, Schlesser P, Stevens R, Nuttin C, Martin JJ, Van Coster R, Seneca S, Roels F, Van Goethem G, Löfgren A, De Meirleir L. Scalais E, et al. Among authors: francois b. Eur J Paediatr Neurol. 2012 Sep;16(5):542-8. doi: 10.1016/j.ejpn.2012.01.013. Epub 2012 Feb 17. Eur J Paediatr Neurol. 2012. PMID: 22342071
Mitochondrial mosaics in the liver of 3 infants with mtDNA defects.
Roels F, Verloo P, Eyskens F, François B, Seneca S, De Paepe B, Martin JJ, Meersschaut V, Praet M, Scalais E, Espeel M, Smet J, Van Goethem G, Van Coster R. Roels F, et al. Among authors: francois b. BMC Clin Pathol. 2009 Jun 5;9:4. doi: 10.1186/1472-6890-9-4. BMC Clin Pathol. 2009. PMID: 19500334 Free PMC article.
High phenylalanine levels directly affect mood and sustained attention in adults with phenylketonuria: a randomised, double-blind, placebo-controlled, crossover trial.
ten Hoedt AE, de Sonneville LM, Francois B, ter Horst NM, Janssen MC, Rubio-Gozalbo ME, Wijburg FA, Hollak CE, Bosch AM. ten Hoedt AE, et al. Among authors: francois b. J Inherit Metab Dis. 2011 Feb;34(1):165-71. doi: 10.1007/s10545-010-9253-9. Epub 2010 Dec 10. J Inherit Metab Dis. 2011. PMID: 21153445 Free PMC article. Clinical Trial.
A European multicenter study of phenylalanine hydroxylase deficiency: classification of 105 mutations and a general system for genotype-based prediction of metabolic phenotype.
Guldberg P, Rey F, Zschocke J, Romano V, François B, Michiels L, Ullrich K, Hoffmann GF, Burgard P, Schmidt H, Meli C, Riva E, Dianzani I, Ponzone A, Rey J, Güttler F. Guldberg P, et al. Among authors: francois b. Am J Hum Genet. 1998 Jul;63(1):71-9. doi: 10.1086/301920. Am J Hum Genet. 1998. PMID: 9634518 Free PMC article.
655 results