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Page 1
Clinical presentation and outcome of riboflavin transporter deficiency: mini review after five years of experience.
Jaeger B, Bosch AM. Jaeger B, et al. J Inherit Metab Dis. 2016 Jul;39(4):559-64. doi: 10.1007/s10545-016-9924-2. Epub 2016 Mar 14. J Inherit Metab Dis. 2016. PMID: 26973221 Free PMC article. Review.
INTRODUCTION: Riboflavin (vitamin B2) is absorbed in the small intestine by the human riboflavin transporters RFVT1 and RFVT3. A third riboflavin transporter (RFVT2) is expressed in the brain. In 2010 it was demonstrated that mutations in the …
INTRODUCTION: Riboflavin (vitamin B2) is absorbed in the small intestine by the human riboflavin transporters RFVT1 and …
Disorders of riboflavin metabolism.
Balasubramaniam S, Christodoulou J, Rahman S. Balasubramaniam S, et al. J Inherit Metab Dis. 2019 Jul;42(4):608-619. doi: 10.1002/jimd.12058. Epub 2019 Mar 11. J Inherit Metab Dis. 2019. PMID: 30680745 Review.
Tissue-specific transporter proteins direct riboflavin to the intracellular machinery responsible for the biosynthesis of the flavocoenzymes flavin mononucleotide (FMN) and flavin adenine dinucleotide (FAD). ...Hence, it is not surprising that the impairment …
Tissue-specific transporter proteins direct riboflavin to the intracellular machinery responsible for the biosynthesis …
Riboflavin in Neurological Diseases: A Narrative Review.
Plantone D, Pardini M, Rinaldi G. Plantone D, et al. Clin Drug Investig. 2021 Jun;41(6):513-527. doi: 10.1007/s40261-021-01038-1. Epub 2021 Apr 22. Clin Drug Investig. 2021. PMID: 33886098 Review.
In the nervous system, riboflavin is essential for the synthesis of myelin and its deficiency can determine the disruption of myelin lamellae. ...Brown-Vialetto-Van Laere syndrome and Fazio-Londe diseases are now renamed as "riboflavin transporter d
In the nervous system, riboflavin is essential for the synthesis of myelin and its deficiency can determine the disruption of …
An update on the genetics, clinical presentation, and pathomechanisms of human riboflavin transporter deficiency.
O'Callaghan B, Bosch AM, Houlden H. O'Callaghan B, et al. J Inherit Metab Dis. 2019 Jul;42(4):598-607. doi: 10.1002/jimd.12053. Epub 2019 Feb 21. J Inherit Metab Dis. 2019. PMID: 30793323 Review.
Riboflavin transporter deficiency (RTD) is a rare neurological condition that encompasses the Brown-Vialetto-Van Laere and Fazio-Londe syndromes since the discovery of pathogenic mutations in the SLC52A2 and SLC52A3 genes that encode human riboflavin
Riboflavin transporter deficiency (RTD) is a rare neurological condition that encompasses the Brown-Vialetto-Van Laere
Riboflavin transport and metabolism in humans.
Barile M, Giancaspero TA, Leone P, Galluccio M, Indiveri C. Barile M, et al. J Inherit Metab Dis. 2016 Jul;39(4):545-57. doi: 10.1007/s10545-016-9950-0. Epub 2016 Jun 6. J Inherit Metab Dis. 2016. PMID: 27271694 Review.
Recent studies elucidated how riboflavin transporters and FAD forming enzymes work in humans and create a coordinated flavin network ensuring the maintenance of cellular flavoproteome. ...Therefore, studies on recently identified human plasma membrane ribo
Recent studies elucidated how riboflavin transporters and FAD forming enzymes work in humans and create a coordinated flavin n …
Riboflavin Deficiency-Implications for General Human Health and Inborn Errors of Metabolism.
Mosegaard S, Dipace G, Bross P, Carlsen J, Gregersen N, Olsen RKJ. Mosegaard S, et al. Int J Mol Sci. 2020 May 28;21(11):3847. doi: 10.3390/ijms21113847. Int J Mol Sci. 2020. PMID: 32481712 Free PMC article. Review.
A latent subclinical riboflavin deficiency can result in a significant clinical phenotype when combined with inborn genetic disturbances or environmental and physiological factors like infections, exercise, diet, aging and pregnancy. ...This review discusses the env …
A latent subclinical riboflavin deficiency can result in a significant clinical phenotype when combined with inborn genetic di …
Benefit of high-dose oral riboflavin therapy in riboflavin transporter deficiency.
Fennessy JR, Cornett KMD, Burns J, Menezes MP. Fennessy JR, et al. J Peripher Nerv Syst. 2023 Sep;28(3):308-316. doi: 10.1111/jns.12587. Epub 2023 Aug 24. J Peripher Nerv Syst. 2023. PMID: 37537696 Review.
Riboflavin transporter deficiency (RTD) is a progressive inherited neuropathy of childhood onset, characterised by pontobulbar palsy, sensorineural deafness, sensory ataxia, muscle weakness, optic atrophy and respiratory failure. ...A PubMed search was conduc
Riboflavin transporter deficiency (RTD) is a progressive inherited neuropathy of childhood onset, characterised by pont
ETF dehydrogenase advances in molecular genetics and impact on treatment.
Missaglia S, Tavian D, Angelini C. Missaglia S, et al. Crit Rev Biochem Mol Biol. 2021 Aug;56(4):360-372. doi: 10.1080/10409238.2021.1908952. Epub 2021 Apr 7. Crit Rev Biochem Mol Biol. 2021. PMID: 33823724 Review.
ETF-QO mutations are often associated with riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency (RR-MADD, OMIM#231680), a multisystem genetic disease characterized by various clinical manifestations with different degrees of severity. In this review, we …
ETF-QO mutations are often associated with riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency (RR-MADD, OMIM#231 …
Iatrogenic nutritional deficiencies.
Young RC, Blass JP. Young RC, et al. Annu Rev Nutr. 1982;2:201-27. doi: 10.1146/annurev.nu.02.070182.001221. Annu Rev Nutr. 1982. PMID: 6764730 Review.
This article catalogs the nutritional deficiencies inadvertently introduced by certain treatment regimens. ...Patients undergoing hemodialysis have shown carnitine and choline deficiencies, potassium depletion, and hypovitaminosis, as well as osteomalacia. ...
This article catalogs the nutritional deficiencies inadvertently introduced by certain treatment regimens. ...Patients undergoing hem …
Disorders of flavin adenine dinucleotide metabolism: MADD and related deficiencies.
Mereis M, Wanders RJA, Schoonen M, Dercksen M, Smuts I, van der Westhuizen FH. Mereis M, et al. Int J Biochem Cell Biol. 2021 Mar;132:105899. doi: 10.1016/j.biocel.2020.105899. Epub 2020 Dec 3. Int J Biochem Cell Biol. 2021. PMID: 33279678 Review.
Multiple acyl-coenzyme A dehydrogenase deficiency (MADD), or glutaric aciduria type II (GAII), is a group of clinically heterogeneous disorders caused by mutations in electron transfer flavoprotein (ETF) and ETF-ubiquinone oxidoreductase (ETFQO) - the two enzymes responsib …
Multiple acyl-coenzyme A dehydrogenase deficiency (MADD), or glutaric aciduria type II (GAII), is a group of clinically heterogeneous …
30 results