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A case report of a mild form of multiple acyl-CoA dehydrogenase deficiency due to compound heterozygous mutations in the ETFA gene.
BMC Med Genomics. 2020 Jan 29;13(1):12. doi: 10.1186/s12920-020-0665-6.
BMC Med Genomics. 2020.
PMID: 31996215
Free PMC article.
Riboflavin-Responsive and -Non-responsive Mutations in FAD Synthase Cause Multiple Acyl-CoA Dehydrogenase and Combined Respiratory-Chain Deficiency.
Olsen RKJ, Koňaříková E, Giancaspero TA, Mosegaard S, Boczonadi V, Mataković L, Veauville-Merllié A, Terrile C, Schwarzmayr T, Haack TB, Auranen M, Leone P, Galluccio M, Imbard A, Gutierrez-Rios P, Palmfeldt J, Graf E, Vianey-Saban C, Oppenheim M, Schiff M, Pichard S, Rigal O, Pyle A, Chinnery PF, Konstantopoulou V, Möslinger D, Feichtinger RG, Talim B, Topaloglu H, Coskun T, Gucer S, Botta A, Pegoraro E, Malena A, Vergani L, Mazzà D, Zollino M, Ghezzi D, Acquaviva C, Tyni T, Boneh A, Meitinger T, Strom TM, Gregersen N, Mayr JA, Horvath R, Barile M, Prokisch H.
Olsen RKJ, et al. Among authors: veauville merllie a.
Am J Hum Genet. 2016 Jun 2;98(6):1130-1145. doi: 10.1016/j.ajhg.2016.04.006.
Am J Hum Genet. 2016.
PMID: 27259049
Free PMC article.
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Hyperprolinemia in Type 2 Glutaric Aciduria and MADD-Like Profiles.
Pontoizeau C, Habarou F, Brassier A, Veauville-Merllié A, Grisel C, Arnoux JB, Vianey-Saban C, Barouki R, Chadefaux-Vekemans B, Acquaviva C, de Lonlay P, Ottolenghi C.
Pontoizeau C, et al. Among authors: veauville merllie a.
JIMD Rep. 2016;27:39-45. doi: 10.1007/8904_2015_481. Epub 2015 Sep 27.
JIMD Rep. 2016.
PMID: 26409463
Free PMC article.
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A juvenile ALS-like phenotype dramatically improved after high-dose riboflavin treatment.
Carreau C, Lenglet T, Mosnier I, Lahlou G, Fargeot G, Weiss N, Demeret S, Salachas F, Veauville-Merllié A, Acquaviva C, Nadjar Y.
Carreau C, et al. Among authors: veauville merllie a.
Ann Clin Transl Neurol. 2020 Feb;7(2):250-253. doi: 10.1002/acn3.50977. Epub 2020 Feb 5.
Ann Clin Transl Neurol. 2020.
PMID: 32022482
Free PMC article.
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Late-onset riboflavin transporter deficiency: a treatable mimic of various motor neuropathy aetiologies.
Carreau C, Benoit C, Ahle G, Cauquil C, Roubertie A, Lenglet T, Cosgrove J, Meunier I, Veauville-Merllié A, Acquaviva-Bourdain C, Nadjar Y.
Carreau C, et al. Among authors: veauville merllie a.
J Neurol Neurosurg Psychiatry. 2020 Oct 21:jnnp-2020-323304. doi: 10.1136/jnnp-2020-323304. Online ahead of print.
J Neurol Neurosurg Psychiatry. 2020.
PMID: 33087424
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SLC25A32 Mutations and Riboflavin-Responsive Exercise Intolerance.
Schiff M, Veauville-Merllié A, Su CH, Tzagoloff A, Rak M, Ogier de Baulny H, Boutron A, Smedts-Walters H, Romero NB, Rigal O, Rustin P, Vianey-Saban C, Acquaviva-Bourdain C.
Schiff M, et al. Among authors: veauville merllie a.
N Engl J Med. 2016 Feb 25;374(8):795-7. doi: 10.1056/NEJMc1513610.
N Engl J Med. 2016.
PMID: 26933868
Free PMC article.
No abstract available.
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