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Initial presentation, management and follow-up data of 33 treated patients with hereditary tyrosinemia type 1 in the absence of newborn screening.
Hajji H, Imbard A, Spraul A, Taibi L, Barbier V, Habes D, Brassier A, Arnoux JB, Bouchereau J, Pichard S, Sissaoui S, Lacaille F, Girard M, Debray D, de Lonlay P, Schiff M. Hajji H, et al. Among authors: spraul a. Mol Genet Metab Rep. 2022 Nov 8;33:100933. doi: 10.1016/j.ymgmr.2022.100933. eCollection 2022 Dec. Mol Genet Metab Rep. 2022. PMID: 36393896 Free PMC article.
Heterogeneity of follow-up procedures in French and Belgian patients with treated hereditary tyrosinemia type 1: results of a questionnaire and proposed guidelines.
Schiff M, Broue P, Chabrol B, De Laet C, Habes D, Mention K, Sarles J, Spraul A, Valayannopoulos V, Ogier de Baulny H; French-Belgian study group for HT-1. Schiff M, et al. Among authors: spraul a. J Inherit Metab Dis. 2012 Sep;35(5):823-9. doi: 10.1007/s10545-011-9429-y. Epub 2011 Dec 14. J Inherit Metab Dis. 2012. PMID: 22167277
Targeted-Capture Next-Generation Sequencing in Diagnosis Approach of Pediatric Cholestasis.
Almes M, Spraul A, Ruiz M, Girard M, Roquelaure B, Laborde N, Gottrand F, Turquet A, Lamireau T, Dabadie A, Bonneton M, Thebaut A, Rohmer B, Lacaille F, Broué P, Fabre A, Mention-Mulliez K, Bouligand J, Jacquemin E, Gonzales E. Almes M, et al. Among authors: spraul a. Diagnostics (Basel). 2022 May 7;12(5):1169. doi: 10.3390/diagnostics12051169. Diagnostics (Basel). 2022. PMID: 35626323 Free PMC article.
Impact of Genotype, Serum Bile Acids, and Surgical Biliary Diversion on Native Liver Survival in FIC1 Deficiency.
van Wessel DBE, Thompson RJ, Gonzales E, Jankowska I, Shneider BL, Sokal E, Grammatikopoulos T, Kadaristiana A, Jacquemin E, Spraul A, Lipiński P, Czubkowski P, Rock N, Shagrani M, Broering D, Algoufi T, Mazhar N, Nicastro E, Kelly D, Nebbia G, Arnell H, Fischler B, Hulscher JBF, Serranti D, Arikan C, Debray D, Lacaille F, Goncalves C, Hierro L, Muñoz Bartolo G, Mozer-Glassberg Y, Azaz A, Brecelj J, Dezsőfi A, Luigi Calvo P, Krebs-Schmitt D, Hartleif S, van der Woerd WL, Wang JS, Li LT, Durmaz Ö, Kerkar N, Hørby Jørgensen M, Fischer R, Jimenez-Rivera C, Alam S, Cananzi M, Laverdure N, Targa Ferreira C, Ordonez F, Wang H, Sency V, Mo Kim K, Chen HL, Carvalho E, Fabre A, Quintero Bernabeu J, Alonso EM, Sokol RJ, Suchy FJ, Loomes KM, McKiernan PJ, Rosenthal P, Turmelle Y, Rao GS, Horslen S, Kamath BM, Rogalidou M, Karnsakul WW, Hansen B, Verkade HJ; Natural Course and Prognosis of PFIC and Effect of Biliary Diversion Consortium. van Wessel DBE, et al. Among authors: spraul a. Hepatology. 2021 Aug;74(2):892-906. doi: 10.1002/hep.31787. Epub 2021 Jul 13. Hepatology. 2021. PMID: 33666275 Free PMC article.
Genotype correlates with the natural history of severe bile salt export pump deficiency.
van Wessel DBE, Thompson RJ, Gonzales E, Jankowska I, Sokal E, Grammatikopoulos T, Kadaristiana A, Jacquemin E, Spraul A, Lipiński P, Czubkowski P, Rock N, Shagrani M, Broering D, Algoufi T, Mazhar N, Nicastro E, Kelly DA, Nebbia G, Arnell H, Björn Fischler, Hulscher JBF, Serranti D, Arikan C, Polat E, Debray D, Lacaille F, Goncalves C, Hierro L, Muñoz Bartolo G, Mozer-Glassberg Y, Azaz A, Brecelj J, Dezsőfi A, Calvo PL, Grabhorn E, Sturm E, van der Woerd WJ, Kamath BM, Wang JS, Li L, Durmaz Ö, Onal Z, Bunt TMG, Hansen BE, Verkade HJ; NAtural course and Prognosis of PFIC and Effect of biliary Diversion (NAPPED) consortium. van Wessel DBE, et al. Among authors: spraul a. J Hepatol. 2020 Jul;73(1):84-93. doi: 10.1016/j.jhep.2020.02.007. Epub 2020 Feb 20. J Hepatol. 2020. PMID: 32087350
Deep phenotyping of MARS1 (interstitial lung and liver disease) and LARS1 (infantile liver failure syndrome 1) recessive multisystemic disease using Human Phenotype Ontology annotation: Overlap and differences. Case report and review of literature.
La Fay C, Hoebeke C, Juzaud M, Spraul A, Heux P, Dubus JC, Hadchouel A, Fabre A. La Fay C, et al. Among authors: spraul a. Eur J Med Genet. 2021 Nov;64(11):104334. doi: 10.1016/j.ejmg.2021.104334. Epub 2021 Sep 5. Eur J Med Genet. 2021. PMID: 34496286 Review.
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