Results 121 to 130 of about 2,738 (140)

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

Journal of Neurology, Neurosurgery & Psychiatry, 2020
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/RTD has rarely been reported in adult patients, but is probably underdiagnosed due to poor knowledge and ...
Carreau, Christophe, Benoit, Charline, Ahle, Guido, Cauquil, Cécile, Roubertie, Agathe, Lenglet, Timothée, Cosgrove, Jeremy, Meunier, Isabelle, Veauville-Merllié, Alice, Acquaviva-Bourdain, Cécile, Nadjar, Yann   +10 more
openaire   +2 more sources

P385 Hypotonic infant with riboflavin transporter deficiency due to slc52a2 mutations

Posters, 2017
Introduction Biologically active forms of riboflavin, which is an important factor in myelin synthesis, are important cofactors of carbohydrate, amino acid, and lipid metabolism. The mutations in the riboflavin transporter genes (SLC52A2, SLC52A3) cause riboflavin transporter deficiency (Brown-Vialetto-Van Laere syndrome, BVVLS).
Ceren Çıralı, Hacer Ergin, Özmert MA Özdemir, Uluç Yis, Mert Karakaya, Janine Altmüller, Peter Nürnberg, Brunhilde Wirth, Selcan Zeynep   +8 more
openaire   +1 more source

Supplemental Material, Amir_Supplementary_AppendixB - The Clinical Journey of Patients with Riboflavin Transporter Deficiency Type 2

2020
Supplemental Material, Amir_Supplementary_AppendixB for The Clinical Journey of Patients with Riboflavin Transporter Deficiency Type 2 by Fatima Amir, Carrie Atzinger, Keith Massey, John Greinwald, Lisa L.
Amir, Fatima, Atzinger, Carrie, Massey, Keith, Greinwald, John, Hunter, Lisa L., Ulm, Elizabeth, Kettler, Margaret   +6 more
openaire   +1 more source

Maternal riboflavin deficiency, resulting in transient neonatal-onset glutaric aciduria Type 2, is caused by a microdeletion in the riboflavin transporter gene GPR172B

Human Mutation, 2010
Riboflavin, or vitamin B2, is a precursor to flavin adenine dinucleotide (FAD) and flavin mononucleotide (FMN) molecules, required in biological oxidation-reduction reactions. We previously reported a case of a newborn female who had clinical and biochemical features of multiple acyl-CoA dehydrogenation deficiency (MADD), which was corrected by ...
Ho, Gladys, Yonezawa, Atsushi, Masuda, Satohiro, Inui, Ken-ichi, Sim, Keow G, Carpenter, Kevin, Olsen, Rikke Katrine, Mitchell, John J, Rhead, William J, Peters, Gregory, Christodoulou, John   +10 more
openaire   +3 more sources

Child Neurology: Five-Year Update on Siblings With Riboflavin Transporter Deficiency

Neurology
Riboflavin transporter deficiency (RTD), previously referred to as Brown-Vialetto-Van Laere syndrome, is caused by pathogenic variants in the SLC52A1, SLC52A2, or SLC52A3 genes, resulting in RTD types 1, 2, and 3, respectively. Researchers estimate an occurrence of approximately 1 in 1,000,000.
Marisa A. O'Brien, Susan M. Culican, Marwan S. Shinawi, Craig M. Zaidman   +3 more
openaire   +2 more sources

Development and Phenotypic Characterisation of a CRISPR/Cas9 Model of Riboflavin Transporter Deficiency in Zebrafish

2023
Riboflavin transport is mediated, in part, by riboflavin transporter proteins 2 and 3, encoded by SLC52A2 and SLC52A3, respectively. Biallelic mutations in SLC52A2 and SLC52A3 impair riboflavin transporter protein function and riboflavin transport, causing disruptions to mitochondrial metabolism which result in sensory and motor neurodegeneration and ...
openaire   +2 more sources

Riboflavin transporter deficiency

Neuromuscular Disorders, 2017
Haliloglu, G., Topaloglu, H., Serdaroglu, ESRA, Konuskan, B., ALİKAŞİFOĞLU, MEHMET   +4 more
openaire   +2 more sources

Riboflavin supplementation in children with riboflavin transporter deficiency type 2 does not stop disease progression based on long‐term follow‐up

Developmental Medicine & Child Neurology
This commentary is on the original article by Fennessy et al. on pages 405–415 of this issue.
Enrico Bertini, Keith Massey
openaire   +2 more sources

Normal Outcome With Prenatal Intervention for Riboflavin Transporter Defect

Pediatric Neurology, 2023
Jo Wilmshurst, Sharika Raga
exaly  

The Clinical Journey of Patients with Riboflavin Transporter Deficiency Type 2

Journal of Child Neurology, 2020
Fatima Amir, Lisa Hunter
exaly