Results 21 to 30 of about 944,643 (357)

Mitochondrial and Peroxisomal Alterations Contribute to Energy Dysmetabolism in Riboflavin Transporter Deficiency [PDF]

Oxidative Medicine and Cellular Longevity, 2020
Riboflavin transporter deficiency (RTD) is a childhood-onset neurodegenerative disorder characterized by progressive pontobulbar palsy, sensory and motor neuron degeneration, sensorineural hearing loss, and optic atrophy.
Fiorella Colasuonno, Alessia Niceforo, Chiara Marioli, Anna Fracassi, Fabrizia Stregapede, Keith Massey, Marco Tartaglia, Enrico Bertini, Claudia Compagnucci, Sandra Moreno   +9 more
openalex   +2 more sources

The Anemia of Human Riboflavin Deficiency [PDF]

Blood, 1965
Abstract 1. Riboflavin deficiency was induced in 8 adult males with a riboflavin deficient diet and a riboflavin antagonist, galactoflavin. 2. Each patient developed a normochromic normocytic anemia and reticulocytopenia. 3. The leukocyte counts and platelet counts remained within the normal range throughout
M, LANE, C P, ALFREY
openaire   +3 more sources

Identification of Riboflavin Metabolism Pathway in HepG2 Cells Expressing Genotype IV Swine Hepatitis E Virus ORF3 Protein [PDF]

Veterinary Sciences
(1) Background: Hepatitis E (HE) is a novel zoonotic disease caused by hepatitis E virus (HEV). In particular, swine hepatitis E virus (SHEV) genotype IV is one of the main genotypes that infect humans.
Jing Tu, Shengping Wu, Lingjie Wang, Chi Meng, Gengxu Zhou, Jianhua Guo, Jixiang Li, Liting Cao, Zhenhui Song, Hanwei Jiao   +9 more
doaj   +2 more sources

Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: Is riboflavin supplementation effective? [PDF]

Orphanet Journal of Rare Diseases, 2018
Background: Mitochondrial acyl-CoA dehydrogenase family member 9 (ACAD9) is essential for the assembly of mitochondrial respiratory chain complex I. Disease causing biallelic variants in ACAD9 have been reported in individuals presenting with lactic ...
Ahting, U. (Uwe), Alston, C.L. (Charlotte L.), Ardissone, A. (Anna), Burlina, A.B. (Alberto), Catarino, C.F.B.S., Coo, I.F.M. (René) de, Coster, R.N.A. (R. N A) van, Dai, L. (Lifang), Diodato, D. (Daria), Fang, F. (Fang), Freisinger, P. (Peter), Ghezzi, D. (Daniele), Haack, T.B. (Tobias B.), Herberg, U. (Ulrike), Häberle, J. (Johannes), Jonckheere, A. (An), Klopstock, T. (Thomas), Lamantea, E. (Eleonora), Ling, H. (Han), Lombès, A. (Anne), Martinelli, D. (Diego), Mastantuono, E. (Elisa), Mayr, J.A. (Johannes A.), McFarland, R. (Robert), Meirleir, L. (Linda) de, Meitinger, T. (Thomas), Moroni, I. (Isabella), Morscher, R.J. (Raphael J.), Munnich, A. (Arnold), Nassogne, M.C. (M.), Pierre, G. (Germaine), Poulton, J. (Joanna), Prokisch, H. (Holger), Pronicka, E. (Ewa), Repp, B.M. (Birgit M.), Rokicki, D. (Dariusz), Rolinski, B. (Boris), Rötig, A. (Agns), Schiff, M. (Manuel), Schottmann, G. (Gudrun), Schuelke, M. (Markus), Scurr, I. (Ingrid), Seneca, S. (S.), Smeets, H.J.M. (Hubert), Smet, J. (Joél), Sperl, W. (Wolfgang), Strecker, V. (Valentina), Strom, T.M. (Tim), Taylor, R.W. (Robert William), Vockley, J. (Jerry), Wellesley, D. (Diana), Wenhong, D. (Ding), Wieland, T. (Thomas), Wittig, I. (Ilka), Wortmann, S.B. (S.), Zeviani, M. (Massimo), Østergaard, E. (Elsebet)   +56 more
core   +3 more sources

Riboflavin-responsive complex I deficiency

Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease, 1995
Three patients from a large consanguineous family, and one unrelated patient had exercise intolerance since early childhood and improved by supplementation with a high dosage of riboflavin. This was confirmed by higher endurance power in exercise testing.
Scholte, H.R., Busch, H.F.M., Bakker, H.D., Bogaard, J.M., Luyt-Houwen, I.E.M., Kuyt, L.P.   +5 more
openaire   +4 more sources

Riboflavin Transporter Deficiency Type 2: Expanding the Phenotype of the Lebanese Founder Mutation p.Gly306Arg in the SLC52A2 Gene [PDF]

Metabolites
Background: Riboflavin transporter deficiency type 2 is an ultra-rare, yet treatable, inborn error of metabolism. This autosomal recessive disorder is caused by pathogenic mutations in the SLC52A2 gene leading to progressive ataxia, polyneuropathy, and ...
Jean-Marc T. Jreissati, Leonard Lawandos, Julien T. Jreissati, Pascale E. Karam   +3 more
doaj   +2 more sources

Riboflavin Deficiency and Apoptosis: A Review

The Journal of Nutrition
Riboflavin, commonly known as vitamin B2, is an essential micronutrient critical for the function of flavoproteins, which utilize flavin mononucleotide and flavin adenine dinucleotide as cofactors in energy metabolism, lipid metabolism, redox regulation, and protein folding.
Bo Zhang, Shuisheng Hou, Jing Tang
openaire   +3 more sources

Wolbachia-supplemented B-vitamins are critical for blood digestion in the bed bug Cimex lectularius [PDF]

Scientific Reports
Wolbachia, a bacterial endosymbiont, acts as an obligate nutritional mutualist in the bed bug, Cimex lectularius. Wolbachia in C. lectularius (wCle) supplements B-vitamins, namely riboflavin (B2) and biotin (B7), which are deficient in the bed bug’s diet
Elizabeth L. Wiles, Madhavi L. Kakumanu, Coby Schal   +2 more
doaj   +2 more sources

Ocular Criteria of Riboflavin Deficiency [PDF]

BMJ, 1943
M. K. Gregory
openaire   +4 more sources

Myopathy with Complex I Deficiency: Riboflavin Carnitine Therapy

Pediatric Neurology Briefs, 1991
A six year old boy with progressive myopathy and motor neuropathy associated with complex I deficiency is reported from the Institutes of Neurology, Pediatrics and Cell Biology, St. Radboud University Hospital, Nijmegen, Netherlands.
J Gordon Millichap
doaj   +3 more sources