Results 41 to 50 of about 571,237 (168)

Cellular Supplements as a Potential Therapeutic for Riboflavin Transporter Deficiency

, 2023
Riboflavin Transporter Deficiency (RTD) is a neurodegenerative disorder that primarily impacts motor neurons. This neurodegenerative disease leads to loss of muscle function, which extends to loss of vision, hearing, eating, moving and ultimately ...
Pryor, Lauren, Sterling, Felicity
core   +1 more source

A.05 An epidemiologic study of SLC52A2-related Riboflavin Transport Deficiency [PDF]

Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques, 2017
Background: Riboflavin transporter deficiency (RTD), formerly known as Brown-Vialetto-van Laere syndrome, is an early-onset neurodegenerative disorder with distinctive phenotypes. RTD is caused by mutations in either the SLC52A2 or SLC52A3 genes that encode riboflavin transporters RFVT-2 and RFVT-3, respectively.
JK Mah, M Menezes, K Massey
openaire   +1 more source

Supplementation of iron alone and combined with vitamins improves haematological status, erythrocyte membrane fluidity and oxidative stress in anaemic pregnant women [PDF]

, 2010
Pregnancy is a condition exhibiting increased susceptibility to oxidative stress, and Fe plays a central role in generating harmful oxygen species. The objective of the present study is to investigate the changes in haematological status, oxidative ...
Frans J. Kok, Chen Jiang, D., Zhi Zhang, Feng, Kok, F.J., Ai Guo Ma, Fang Yang, Yong Ye Sun, Xiu Xia Han, Xia Han, Xiu, Feng Zhi Zhang, Dian Chen Jiang, Ye Sun, Yong, Schouten, E.G., Aiguo, M., Yang, Fang, Evert G. Schouten   +15 more
core   +1 more source

The Brown-Vialetto-Van Laere and Fazio Londe syndrome revisited: natural history, genetics, treatment and future perspectives

Orphanet Journal of Rare Diseases, 2012
The Brown-Vialetto-Van Laere syndrome is a rare neurological disorder which may present at all ages with sensorineural deafness, bulbar palsy and respiratory compromise. Fazio-Londe syndrome is considered to be the same disease entity.
Bosch Annet M, Stroek Kevin, Abeling Nico G, Waterham Hans R, IJlst Lodewijk, Wanders Ronald JA   +5 more
doaj   +1 more source

Alteration of Riboflavin transporter expression in human cancer

, 2022
Riboflavin (Rf), or vitamin B2, is an essential dietary component and represents the precursor of flavin mononucleotide (FMN) and flavin adenine dinucleotide (FAD), which are important enzymatic cofactors required for terminal mitochondrial metabolism ...
Maria Tolomeo, Maria Barile, Alessia Nisco, Tiago Carvalho, Daria Di Molfetta   +4 more
core  

Ocular Biomarkers of Riboflavin Transporter Deficiency

, 2023
To describe the clinical presentation with a focus on ocular manifestations and response to riboflavin supplementation of 3 patients with riboflavin transporter deficiency (RTD) caused by mutations in SLC52A2 (SLC52A2-RTD)
Sabrina Bulas, MS; Emma C. Bedoukian, MS, LCGC; Erin C. O\u27Neil, MD; Ian D. Krantz, MD; Sabrina W. Yum, MD; Grant T. Liu, MD; Tomas S. Aleman, MD
core  

The Clinical Journey of Patients with Riboflavin Transporter Deficiency Type 2

Journal of Child Neurology, 2019
Purpose: To identify symptoms and health care interactions with patients with riboflavin transporter deficiency (RTD) type 2 prior to diagnosis. Methods: Parents of children with riboflavin transporter deficiency type 2 (n = 10) were ...
Fatima Amir, Carrie Atzinger, Keith Massey, John Greinwald, Lisa L. Hunter, Elizabeth Ulm, Margaret Kettler   +6 more
openaire   +3 more sources

Smart Antibacterial Coatings: Harnessing Bacterial Redox Activity for Infection Control

Advanced Materials Interfaces, EarlyView.
In this study, we have shown that ceftazidime‐loaded poly(3,4‐ethylenedioxythiophene) (PEDOT@CAZ) functions as a smart, redox‐responsive antibacterial coating that couples bacterial electrical activity with localized antibiotic delivery. Shewanella oneidensis and Pseudomonas aeruginosa induced distinct redox responses in PEDOT, reflecting their ...
Abdullah, Szymon Smołka, Kamran Ayaz, Sara Shakibania, Sajida Maryam, Taral Patel, Roman Turczyn, Ewa Zabłocka‐Godlewska, Katarzyna Krukiewicz   +8 more
wiley   +1 more source

Effect of low-dosage vitamin A and riboflavin on iron-folate supplementation in anaemic pregnant women [PDF]

, 2002
A double-blind, placebo, controlled trial was conducted in Banyudono subdistrict, Boyolali regency, Central Java province, Indonesia. The aim of the study was to determine whether adding low-dosage vitamin A and riboflavin can enhance the effect of ...
Suprapto, Bambang, Widardo,, Suhanantyo,
core  

Examination of Mitochondrial-Lysosomal Interactions in Riboflavin Transporter Deficiency

, 2023
Riboflavin (vitamin B2) is integral to cellular processes and required for homeostasis. Riboflavin transporter deficiency (RTD) is a progressive neurodegenerative disorder resulting from mutations in SLC52A1, SLC52A2, or SLC52A3 genes.
Thein, Kay, Firmin, Caroline, Pryor, Lauren, Sterling, Felicity   +3 more
core   +1 more source