Results 41 to 50 of about 917,291 (368)

Benefit of high‐dose oral riboflavin therapy in riboflavin transporter deficiency

Journal of the peripheral nervous system, 2023
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.
Jack R Fennessy, Kayla M. D. Cornett, J. Burns, M. Menezes   +3 more
semanticscholar   +1 more source

Update on riboflavin and multiple sclerosis: a systematic review [PDF]

Iranian Journal of Basic Medical Sciences, 2017
Multiple sclerosis (MS) is an inflammatory demyelinating disease of the central nervous system (CNS). Riboflavin plays an important role in myelin formation, and its deficiency is implicated as a risk factor for multiple sclerosis.
Mahshid Naghashpour, Sima Jafarirad, Reza Amani, Alireza Sarkaki, Ahmad Saedisomeolia   +4 more
doaj   +1 more source

Riboflavin Status in Pregnancy and Its Relationship with Blood Pressure, Heart Rate and Risk of Hypertension: Findings from the OptiPREG Observational Study

Proceedings, 2023
Clinical riboflavin deficiency is common in low- and middle-income countries, whilst sub-optimal riboflavin status may be much more prevalent globally than generally recognized, including in high-income countries.
Bethany Duffy, Helene McNulty, Mary Ward, Elina Psara, Emma O’Sullivan, Geraldine Horigan, Kristina Pentieva   +6 more
doaj   +1 more source

Riboflavin (Vitamin B2) Deficiency Induces Apoptosis Mediated by Endoplasmic Reticulum Stress and the CHOP Pathway in HepG2 Cells

Nutrients, 2022
Riboflavin is an essential micronutrient and a precursor of flavin mononucleotide and flavin adenine dinucleotide for maintaining cell homeostasis. Riboflavin deficiency (RD) induces cell apoptosis.
Bo Zhang, Junfeng Cao, Yongbao Wu, Ke-Xin Gao, M. Xie, Zhengkui Zhou, Jing Tang, Shui-sheng Hou   +7 more
semanticscholar   +1 more source

Probiotic Potential of a Novel Vitamin B2-Overproducing Lactobacillus plantarum Strain, HY7715, Isolated from Kimchi

Applied Sciences, 2021
Vitamin B2, also known as riboflavin, is essential for maintaining human health. The purpose of this study was to isolate novel lactic acid bacteria that overproduce vitamin B2 and to validate their potential as probiotics.
Joo-Yun Kim, Eun-Jung Choi, Jae-Ho Lee, Myeong-Seok Yoo, Keon Heo, Jae-Jung Shim, Jung-Lyoul Lee   +6 more
doaj   +1 more source

Two Rare Cases of Long Surviving Riboflavin Transporter Deficiency with Co-Existing Adenosine Monophosphate Deaminase (AMP) Deficiency

Brain Sciences, 2022
(1) Background: Riboflavin transporter deficiency (RTD), formerly known as Brown–Vialetto–Van Laere syndrome, is a rare condition that causes a progressive neurological syndrome in early life with features of auditory and optic neuropathy, weakness of ...
Lin Zhang, Dominic Thyagarajan
doaj   +1 more source

Abnormal VLCADD newborn screening resembling MADD in four neonates with decreased riboflavin levels and VLCAD activity

JIMD Reports, 2021
Early detection of congenital disorders by newborn screening (NBS) programs is essential to prevent or limit disease manifestation in affected neonates.
Marne C. Hagemeijer, Esmee Oussoren, George J. G. Ruijter, Willem Onkenhout, Hidde H. Huidekoper, Merel S. Ebberink, Hans R. Waterham, Sacha Ferdinandusse, Maaike C. deVries, Marleen C. D. G. Huigen, Leo A. J. Kluijtmans, Karlien L. M. Coene, Henk J Blom   +12 more
doaj   +1 more source

A novel ETFDH mutation identified in a patient with riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency. [PDF]

Intractable Rare Dis Res
Ou Y, Wen Y, Chen X, Peng Y, Lai M, Wang H, Zhang H.   +6 more
europepmc   +2 more sources

Riboflavin transporter deficiency: <i>AAV9-SLC52A2</i> gene therapy as a new therapeutic strategy. [PDF]

Front Cell Neurosci
Mei C, Magliocca V, Chen X, Massey K, Gonzalez-Cordero A, Gray SJ, Tartaglia M, Bertini ES, Corti S, Compagnucci C.   +9 more
europepmc   +2 more sources

Twin Premature Infants With Riboflavin and Biotin Deficiency Presenting With Refractory Lactic Acidosis, Rash, and Multiorgan Failure During Prolonged Parenteral Nutrition

Journal of Investigative Medicine High Impact Case Reports, 2023
We are reporting monochorionic, diamniotic twin premature infants born at 25 weeks and 6 days gestation with riboflavin (vitamin B2) and biotin (vitamin B7) deficiency, while on prolonged total parenteral nutrition (TPN) during vitamin shortage.
Mohammad Amin Adie MD, Maria Martes Gomez DO, Jessica Yom MD, Manuel Durand MD, Fiona Wertheimer DO, Rachel McGowan MS, RD, Shoji Yano MD, PhD, Rangasamy Ramanathan MD   +7 more
doaj   +1 more source