Benefit of high‐dose oral riboflavin therapy in riboflavin transporter deficiency
JR Fennessy, KMD Cornett, J Burns… - Journal of the …, 2023 - Wiley Online Library
Riboflavin transporter deficiency (RTD) is a progressive inherited neuropathy of childhood
onset, characterised by pontobulbar palsy, sensorineural deafness, sensory ataxia, muscle …
onset, characterised by pontobulbar palsy, sensorineural deafness, sensory ataxia, muscle …
Development of novel experimental models to study flavoproteome alterations in human neuromuscular diseases: the effect of Rf therapy
M Tolomeo, A Nisco, P Leone, M Barile - International Journal of …, 2020 - mdpi.com
Inborn errors of Riboflavin (Rf) transport and metabolism have been recently related to
severe human neuromuscular disorders, as resulting in profound alteration of human …
severe human neuromuscular disorders, as resulting in profound alteration of human …
[HTML][HTML] Riboflavin transporter deficiency
Riboflavin transporter deficiency (RTD), comprising RTD2 and RTD3 (caused by biallelic
pathogenic variants in SLC52A2 and SLC52A3, respectively) is a rare neurologic condition …
pathogenic variants in SLC52A2 and SLC52A3, respectively) is a rare neurologic condition …
Alteration of flavin cofactor homeostasis in human neuromuscular pathologies
M Tolomeo, A Nisco, M Barile - Flavins and Flavoproteins: Methods and …, 2021 - Springer
The aim of this short review chapter is to provide a brief summary of the relevance of
riboflavin (Rf or vitamin B2) and its derived cofactors flavin mononucleotide (FMN) and flavin …
riboflavin (Rf or vitamin B2) and its derived cofactors flavin mononucleotide (FMN) and flavin …
Normal Outcome With Prenatal Intervention for Riboflavin Transporter Defect
N Elks, JM Wilmshurst, SV Raga - Pediatric Neurology, 2023 - Elsevier
Background Riboflavin transporter deficiency is a rare but severe neurometabolic disorder.
Methods We report two siblings with pathogenic variants in SLC52A3 gene, resulting in …
Methods We report two siblings with pathogenic variants in SLC52A3 gene, resulting in …
[PDF][PDF] R., Torkmandi, H., Khademi, E., 2020. Fazio-Londe Syn-drome and Patient-centered Nursing Care: A Case Report
Case Report: Fazio-Londe Syndrome and Patient-centered Nursing Care: A Case Report Page
1 May 2020. Volume 6. Number 2 Client-Centered Nursing Care 135 Case Report: Fazio-Londe …
1 May 2020. Volume 6. Number 2 Client-Centered Nursing Care 135 Case Report: Fazio-Londe …
[PDF][PDF] Rozvoj komunikačních schopností u dítěte s Brown-Vialetto-Van Laere syndromem
PDR Horáková, BM Konečná - is.muni.cz
Za odbornou pomoc děkuji své vedoucí diplomové práce, paní PhDr. Radce Horákové, Ph.
D. Mé poděkování patří také ostatním vyučujícím, kteří se podíleli na mé odborné přípravě …
D. Mé poděkování patří také ostatním vyučujícím, kteří se podíleli na mé odborné přípravě …
[HTML][HTML] Riboflavin Transporter Deficiency
MRI Brain - europepmc.org
Riboflavin transporter deficiency (RTD), comprising RTD2 and RTD3 (caused by biallelic
pathogenic variants in SLC52A2 and SLC52A3, respectively) is a rare neurologic condition …
pathogenic variants in SLC52A2 and SLC52A3, respectively) is a rare neurologic condition …
[PDF][PDF] Pedagogická fakulta
PDR Horáková, BV Klvačová - is.muni.cz
Za odbornou pomoc děkuji své vedoucí diplomové práce, paníPhDr. Radce Horákové, Ph.
D. Mé poděkování patří také ostatním vyučujícím, kteří se podíleli na mé odborné přípravě …
D. Mé poděkování patří také ostatním vyučujícím, kteří se podíleli na mé odborné přípravě …
Fasciculations in Children
HW Choi - Pediatric Neurology, 2021 - Elsevier
Fasciculations are the most common form of spontaneous muscle contraction. They
frequently occur in healthy individuals. However, there are a minority of situations that …
frequently occur in healthy individuals. However, there are a minority of situations that …