Results 121 to 130 of about 17,684 (152)

Hematologic presentation and the role of untargeted metabolomics analysis in monitoring treatment for riboflavin transporter deficiency

American Journal of Medical Genetics, Part A, 2020
Riboflavin transporter deficiency (RTD) (MIM #614707) is a neurogenetic disorder with its most common manifestations including sensorineural hearing loss, peripheral neuropathy, respiratory insufficiency, and bulbar palsy.
Nishitha R Pillai, Charul Gijavanekar, Ning Liu   +2 more
exaly   +4 more sources

Ocular Biomarkers of Riboflavin Transporter Deficiency

Journal of Neuro-Ophthalmology, 2022
Background: 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). Methods: This is a
Sabrina Bulas, Emma C. Bedoukian, E. O’Neil, I. Krantz, S. Yum, Grant T. Liu, T. Aleman   +6 more
semanticscholar   +3 more sources

Impact of natural mutations on the riboflavin transporter 2 and their relevance to human riboflavin transporter deficiency 2

IUBMB Life, 2021
Riboflavin transporter deficiency 2 (RTD2) is a rare neurological disorder caused by mutations in the Solute carrier family 52 member 2 (Slc52a2) gene encoding human riboflavin transporter 2 (RFVT2).
Lara Console, M. Tolomeo, J. Cosco, K. Massey, M. Barile, C. Indiveri   +5 more
semanticscholar   +4 more sources

Riboflavin transporter deficiency mimicking mitochondrial myopathy caused by complex II deficiency

American Journal of Medical Genetics, Part A, 2018
Biallelic likely pathogenic variants in SLC52A2 and SLC52A3 cause riboflavin transporter deficiency. It is characterized by muscle weakness, ataxia, progressive ponto‐bulbar palsy, amyotrophy, and sensorineural hearing loss. Oral riboflavin halts disease progression and may reverse symptoms.
Resham Ejaz, Peter Kannu, Saadet Mercimek-Mahmutoglu   +2 more
exaly   +4 more sources

The First Case of Riboflavin Transporter Deficiency in sub-Saharan Africa.

Seminars in Pediatric Neurology, 2017
This report describes the first case of a child with genetically confirmed Brown-Vialetto-van Laere syndrome in sub-Saharan Africa. This is an extremely rare clinical condition that presents with an auditory neuropathy, bulbar palsy, stridor, muscle ...
S. Chaya, M. Zampoli, D. Gray, J. Booth, G. Riordan, A. Ndondo, K. Fieggen, J. Rusch, G. F. van der Watt, K. Pillay, F. H. van der Westhuizen, M. Menezes, J. Wilmshurst   +12 more
semanticscholar   +4 more sources

Late-onset riboflavin transporter deficiency: a treatable mimic of various motor neuropathy aetiologies

Journal of Neurology, Neurosurgery & Psychiatry, 2020
Objective Riboflavin transporter deficiencies (RTDs), involving SLC52A3 and SLC52A2 genes, have recently been related to Brown-Vialetto-Van Laere (BVVL) syndrome, a hereditary paediatric condition associating motor neuropathy (MN) and deafness.
C. Carreau, Charline Benoit, G. Ahle, C. Cauquil, A. Roubertie, T. Lenglet, Jeremy Cosgrove, I. Meunier, Alice Veauville-Merllié, C. Acquaviva-Bourdain, Y. Nadjar   +10 more
semanticscholar   +3 more sources

Review of Riboflavin Transporter Deficiency Syndrome: Sameness in Genotype occurs with Variations in Phenotype.

The FASEB Journal, 2020
Riboflavin Transporter Deficiency Syndrome (RTD) is a rare childhood neurodegenerative disorder. RTD is acquired as an autosomal recessive pattern, which indicates that a child whose parents are carriers of RTD has a 25% chance of having the disease ...
C. Ukpong, G. Einstein, O. Tulp
semanticscholar   +2 more sources

Electrodiagnostic Findings in Riboflavin Transporter Deficiency Type 2.

Journal of Clinical Neuromuscular Disease, 2022
Abstract We present the electrodiagnostic findings in a case of a 3-year-old girl presenting with sensory ataxia, gait disturbance, and visual–auditory disturbance with a genetically confirmed diagnosis of riboflavin transporter deficiency type 2 (RTD2). She carries a homozygous mutation in the SLC52A2 gene, c.1016T>C (p.Leu339Pro).
J. A. Sánchez, Rebecca E. Traub, S. Trau, J. Howard   +3 more
semanticscholar   +3 more sources

Riboflavin transporter deficiency unmasked by dietary changes

Molecular Genetics and Metabolism
A. Bosch, B. Jaeger, M. Langeveld, Robert Brunkhorst, Felix Disterlmaier, N. Wolf   +5 more
semanticscholar   +2 more sources

Riboflavin transporter deficiency

Neuromuscular Disorders, 2017
E. Serdaroğlu, B. Konuşkan, G. Haliloglu, M. Alikaşifoğlu, H. Topaloğlu   +4 more
semanticscholar   +3 more sources