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Oral therapy for riboflavin transporter deficiency - What is the regimen of choice? [PDF]
Parkinsonism & Related Disorders, 2019 Contains fulltext : 206709.pdf (Publisher’s version ) (Open Access)
Sorina Gorcenco +11 more
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P385 Hypotonic infant with riboflavin transporter deficiency due to slc52a2 mutations
Posters, 2017Introduction 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).
C. Çıralı +8 more
semanticscholar +2 more sources
Developmental Medicine & Child Neurology
This commentary is on the original article by Fennessy et al. on pages 405–415 of this issue.
E. Bertini, K. Massey
semanticscholar +3 more sources
This commentary is on the original article by Fennessy et al. on pages 405–415 of this issue.
E. Bertini, K. Massey
semanticscholar +3 more sources
Riboflavin transporter deficiency diagnosed 30 years after onset of symptoms
Neuromuscular Disorders, 2016A. V. D. Kooi +3 more
semanticscholar +2 more sources
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 +6 more
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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 +6 more
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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 +10 more
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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 +10 more
openaire +3 more sources
Child Neurology: Five-Year Update on Siblings With Riboflavin Transporter Deficiency
NeurologyRiboflavin 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 +3 more
openaire +2 more sources
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 ...
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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