A juvenile ALS‐like phenotype dramatically improved after high‐dose riboflavin treatment

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

A juvenile ALS‐like phenotype dramatically improved after high‐dose riboflavin treatment

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⟩

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

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4a79a69ef82f27f00905775d4e479675
https://doi.org/10.1002/acn3.50977

Late-onset riboflavin transporter deficiency: a treatable mimic of various motor neuropathy aetiologies

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

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::43dd3745a6f0cfb3fa62a5d2e019c059
https://pubmed.ncbi.nlm.nih.gov/33087424

Hyperprolinemia in Type 2 Glutaric Aciduria and MADD-Like Profiles

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

A case report of a mild form of multiple acyl-CoA dehydrogenase deficiency due to compound heterozygous mutations in the ETFA gene.

Autor: Chautard, Robin¹ (AUTHOR), Laroche-Raynaud, Cécile^2,3 (AUTHOR), Lia, Anne-Sophie^1,4 (AUTHOR), Chazelas, Pauline^1,4 (AUTHOR), Derouault, Paco^1,4 (AUTHOR), Sturtz, Franck^1,4 (AUTHOR), Baaj, Yasser¹ (AUTHOR), Veauville-Merllié, Alice⁵ (AUTHOR), Acquaviva, Cécile⁵ (AUTHOR), Favreau, Frédéric^1,4 (AUTHOR), Faye, Pierre-Antoine^1,4 (AUTHOR) pierre-antoine.faye@unilim.fr

Publikováno v: BMC Medical Genomics. 1/29/2020, Vol. 13 Issue 1, p1-6. 6p.