Vincent MF - Search Results

1

AICA-ribosiduria: a novel, neurologically devastating inborn error of purine biosynthesis caused by mutation of ATIC.

Marie S, Heron B, Bitoun P, Timmerman T, Van Den Berghe G, Vincent MF. Marie S, et al. Among authors: vincent mf. Am J Hum Genet. 2004 Jun;74(6):1276-81. doi: 10.1086/421475. Epub 2004 Apr 26. Am J Hum Genet. 2004. PMID: 15114530 Free PMC article.

2

Misleading behavioural phenotype with adenylosuccinate lyase deficiency.

Gitiaux C, Ceballos-Picot I, Marie S, Valayannopoulos V, Rio M, Verrieres S, Benoist JF, Vincent MF, Desguerre I, Bahi-Buisson N. Gitiaux C, et al. Among authors: vincent mf. Eur J Hum Genet. 2009 Jan;17(1):133-6. doi: 10.1038/ejhg.2008.174. Epub 2008 Oct 1. Eur J Hum Genet. 2009. PMID: 18830228 Free PMC article.

3

AICA-ribosiduria due to ATIC deficiency: Delineation of the phenotype with three novel cases, and long-term update on the first case.

Ramond F, Rio M, Héron B, Imbard A, Marie S, Billiemaz K, Denommé-Pichon AS, Kuentz P, Ceballos I, Piraud M, Vincent MF, Touraine R. Ramond F, et al. Among authors: vincent mf. J Inherit Metab Dis. 2020 Nov;43(6):1254-1264. doi: 10.1002/jimd.12274. Epub 2020 Jul 9. J Inherit Metab Dis. 2020. PMID: 32557644

4

Intrafamilial variability in the phenotypic expression of adenylosuccinate lyase deficiency: a report on three patients.

Edery P, Chabrier S, Ceballos-Picot I, Marie S, Vincent MF, Tardieu M. Edery P, et al. Among authors: vincent mf. Am J Med Genet A. 2003 Jul 15;120A(2):185-90. doi: 10.1002/ajmg.a.20176. Am J Med Genet A. 2003. PMID: 12833398

5

Belgian rare diseases plan in clinical pathology: identification of key biochemical diagnostic tests and establishment of reference laboratories and financing conditions.

Vandevelde NM, Vermeersch P, Devreese KMJ, Vincent MF, Gulbis B, Eyskens F, Boemer F, Gothot A, Van Hoof VO, Bonroy C, Stepman H, Martens GA, Bossuyt X, Roosens L, Smet J, Laeremans H, Weets I, Minon JM, Vernelen K, Coucke W; Advisory Board of the Action 1 of the Belgian National Plan for Rare Diseases. Vandevelde NM, et al. Among authors: vincent mf. Orphanet J Rare Dis. 2021 Feb 17;16(1):89. doi: 10.1186/s13023-021-01728-1. Orphanet J Rare Dis. 2021. PMID: 33596965 Free PMC article.

6

Longitudinal study of Pex1-G844D NMRI mouse model: A robust pre-clinical model for mild Zellweger spectrum disorder.

Demaret T, Roumain M, Ambroise J, Evraerts J, Ravau J, Bouzin C, Bearzatto B, Gala JL, Stepman H, Marie S, Vincent MF, Muccioli GG, Najimi M, Sokal EM. Demaret T, et al. Among authors: vincent mf. Biochim Biophys Acta Mol Basis Dis. 2020 Nov 1;1866(11):165900. doi: 10.1016/j.bbadis.2020.165900. Epub 2020 Jul 18. Biochim Biophys Acta Mol Basis Dis. 2020. PMID: 32693164 Free article.

7

Fatal Idiopathic Hyperammonemia after Induction Chemotherapy for Acute Myeloid Leukemia.

Angelo C, Vincent MF, Komuta M, Hantson P, Straetmans N, Boulet E. Angelo C, et al. Among authors: vincent mf. Case Rep Hematol. 2020 Feb 8;2020:3136074. doi: 10.1155/2020/3136074. eCollection 2020. Case Rep Hematol. 2020. PMID: 32089907 Free PMC article.

8

Hyperammonemic Encephalopathy and Lipid Dysmetabolism in a Critically Ill Patient After a Short Course of Amiodarone.

Cappe M, Hantson P, Komuta M, Vincent MF, Laterre PF, Ould-Nana I. Cappe M, et al. Among authors: vincent mf. J Crit Care Med (Targu Mures). 2019 Nov 27;5(4):161-165. doi: 10.2478/jccm-2019-0026. eCollection 2019 Oct. J Crit Care Med (Targu Mures). 2019. PMID: 31915724 Free PMC article.

9

Protection of Cystinotic Mice by Kidney-Specific Megalin Ablation Supports an Endocytosis-Based Mechanism for Nephropathic Cystinosis Progression.

Janssens V, Gaide Chevronnay HP, Marie S, Vincent MF, Van Der Smissen P, Nevo N, Vainio S, Nielsen R, Christensen EI, Jouret F, Antignac C, Pierreux CE, Courtoy PJ. Janssens V, et al. Among authors: vincent mf. J Am Soc Nephrol. 2019 Nov;30(11):2177-2190. doi: 10.1681/ASN.2019040371. Epub 2019 Sep 23. J Am Soc Nephrol. 2019. PMID: 31548351 Free PMC article.

10

SLC13A3 variants cause acute reversible leukoencephalopathy and α-ketoglutarate accumulation.

Dewulf JP, Wiame E, Dorboz I, Elmaleh-Bergès M, Imbard A, Dumitriu D, Rak M, Bourillon A, Helaers R, Malla A, Renaldo F, Boespflug-Tanguy O, Vincent MF, Benoist JF, Wevers RA, Schlessinger A, Van Schaftingen E, Nassogne MC, Schiff M. Dewulf JP, et al. Among authors: vincent mf. Ann Neurol. 2019 Mar;85(3):385-395. doi: 10.1002/ana.25412. Epub 2019 Jan 29. Ann Neurol. 2019. PMID: 30635937

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

Search Page

Search Results