Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Alice Veauville-Merllié"'
Autor:
Christophe Carreau, Timothée Lenglet, Isabelle Mosnier, Ghizlene Lahlou, Guillaume Fargeot, Nicolas Weiss, Sophie Demeret, François Salachas, Alice Veauville‐Merllié, Cécile Acquaviva, Yann Nadjar
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 7, Iss 2, Pp 250-253 (2020)
AbstractRiboflavin transporter deficiency (RTD) was recently characterized as a cause of genetic recessive childhood‐onset motor neuron disease (MND) with hearing loss, formerly described as Brown‐Vialetto‐Van‐Lear syndrome. We describe a 18
Externí odkaz:
https://doaj.org/article/579ff430302943dc9367a9be9abb2a6b
Autor:
Robin Chautard, Cécile Laroche-Raynaud, Anne-Sophie Lia, Pauline Chazelas, Paco Derouault, Franck Sturtz, Yasser Baaj, Alice Veauville-Merllié, Cécile Acquaviva, Frédéric Favreau, Pierre-Antoine Faye
Publikováno v:
BMC Medical Genomics, Vol 13, Iss 1, Pp 1-6 (2020)
Abstract Background Multiple acyl-CoA dehydrogenase deficiency (MADD), previously called glutaric aciduria type II, is a rare congenital metabolic disorder of fatty acids and amino acids oxidation, with recessive autosomal transmission. The prevalenc
Externí odkaz:
https://doaj.org/article/f82f78f6f14a4d479ed7ed90ec0b8056
Autor:
François Salachas, Alice Veauville-Merllié, Cécile Acquaviva, Isabelle Mosnier, Timothée Lenglet, Yann Nadjar, Nicolas Weiss, Ghizlene Lahlou, Sophie Demeret, Christophe Carreau, Guillaume Fargeot
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 7, Iss 2, Pp 250-253 (2020)
Annals of Clinical and Translational Neurology
Annals of Clinical and Translational Neurology, Wiley, 2020, 7 (2), pp.250-253. ⟨10.1002/acn3.50977⟩
Annals of Clinical and Translational Neurology
Annals of Clinical and Translational Neurology, Wiley, 2020, 7 (2), pp.250-253. ⟨10.1002/acn3.50977⟩
International audience; Riboflavin transporter deficiency (RTD) was recently characterized as a cause of genetic recessive childhood-onset motor neuron disease (MND) with hearing loss, formerly described as Brown-Vialetto-Van-Lear syndrome. We descri
Autor:
Alice Veauville-Merllié, Pauline Chazelas, Cécile Acquaviva, Yasser Baaj, Anne-Sophie Lia, Frédéric Favreau, Cécile Laroche-Raynaud, Paco Derouault, Franck Sturtz, Robin Chautard, Pierre-Antoine Faye
Publikováno v:
BMC Medical Genomics, Vol 13, Iss 1, Pp 1-6 (2020)
BMC Medical Genomics
BMC Medical Genomics
Background Multiple acyl-CoA dehydrogenase deficiency (MADD), previously called glutaric aciduria type II, is a rare congenital metabolic disorder of fatty acids and amino acids oxidation, with recessive autosomal transmission. The prevalence in the
Autor:
Yann Nadjar, Jeremy Cosgrove, Timothée Lenglet, Charline Benoit, Guido Ahle, Alice Veauville-Merllié, Agathe Roubertie, Christophe Carreau, Cécile Cauquil, Cécile Acquaviva-Bourdain, Isabelle Meunier
Publikováno v:
Journal of neurology, neurosurgery, and psychiatry.
ObjectiveRiboflavin transporter deficiencies (RTDs), involving SLC52A3 and SLC52A2 genes, have recently been related to Brown-Vialetto-Van Laere (BVVL) syndrome, a hereditary paediatric condition associating motor neuropathy (MN) and deafness. BVVL/R
Autor:
Pierre Rustin, Alexander Tzagoloff, Norma B. Romero, Chen-Hsien Su, Malgorzata Rak, Christine Vianey-Saban, Hélène Smedts-Walters, Audrey Boutron, Odile Rigal, Hélène Ogier de Baulny, Manuel Schiff, Cécile Acquaviva-Bourdain, Alice Veauville-Merllié
Publikováno v:
New England Journal of Medicine
New England Journal of Medicine, Massachusetts Medical Society, 2016, 374 (8), pp.795-7. ⟨10.1056/NEJMc1513610⟩
New England Journal of Medicine, Massachusetts Medical Society, 2016, 374 (8), pp.795-7. ⟨10.1056/NEJMc1513610⟩
A patient with late-onset exercise intolerance had haploinsufficiency of SLC25A32, which encodes the human mitochondrial flavin adenine dinucleotide transporter. The patient's symptoms were highly responsive to oral supplementation with riboflavin.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::65bbc36aa6de3293eac7b6380f4efd66
https://europepmc.org/articles/PMC4867164/
https://europepmc.org/articles/PMC4867164/
Autor:
Bernadette Chadefaux-Vekemans, Chris Ottolenghi, Pascale de Lonlay, Jean-Baptiste Arnoux, Alice Veauville-Merllié, Coraline Grisel, Clément Pontoizeau, Christine Vianey-Saban, Robert Barouki, Florence Habarou, Anaïs Brassier, Cécile Acquaviva
Publikováno v:
JIMD Reports ISBN: 9783662504086
Classical neonatal-onset glutaric aciduria type 2 (MAD deficiency) is a severe disorder of mitochondrial fatty acid oxidation associated with poor survival. Secondary dysfunction of acyl-CoA dehydrogenases may result from deficiency for riboflavin tr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::98a9287a1817a641445064570101fe20
https://doi.org/10.1007/8904_2015_481
https://doi.org/10.1007/8904_2015_481