Results 141 to 150 of about 620,035 (172)

Genetic Diagnosis in Epilepsy: Implications for Clinical Management. [PDF]

Curr Neurol Neurosci Rep
Schatz KS, Lammert DB, Habela CW.
europepmc   +1 more source

Acquired Multiple Acyl-Coenzyme A Dehydrogenase Deficiency Associated With Sertraline in Sweden-A Nationwide Population-Based Study. [PDF]

Eur J Neurol
Sunebo S, Nilsson E, Engvall M, Hedberg-Oldfors C, Shen Y, Nennesmo I, Danielsson O, Oldfors A, Appelqvist H, Lindgren U.   +9 more
europepmc   +1 more source

Riboflavin 1 Transporter Deficiency: Novel SLC52A1 Variants and Expansion of the Phenotypic Spectrum

Genes, 2023
Riboflavin transporter 1 (RFVT1) deficiency is an ultrarare metabolic disorder due to autosomal dominant pathogenic variants in SLC52A1. The RFVT1 protein is mainly expressed in the placenta and intestine. To our knowledge, only five cases of RFVT1 deficiency from three families have been reported so far.
Sarah C Grünert, Miriam Schmidts, Sara Tucci   +2 more
exaly   +5 more sources

An Update on the Genetics, Clinical Presentation, and Pathomechanisms of Human Riboflavin Transporter Deficiency [PDF]

Journal of Inherited Metabolic Disease, 2019
Abstract Riboflavin transporter deficiency (RTD) is a rare neurological condition that encompasses the Brown‐Vialetto‐Van Laere and Fazio‐Londe syndromes since the discovery of pathogenic mutations in the SLC52A2 and SLC52A3 genes that
Annet Bosch, Benjamin O'Callaghan, Henry Houlden   +2 more
exaly   +6 more sources

Benefit of High-Dose Oral Riboflavin Therapy in Riboflavin Transporter Deficiency

Journal of the Peripheral Nervous System, 2023
AbstractRiboflavin 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. Riboflavin supplementation is beneficial in short‐term reports, but the quantum of benefit in various clinical ...
Joshua Burns, Kayla Cornett, Manoj P Menezes   +2 more
exaly   +3 more sources

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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 ...
Sabrina, Bulas, Emma C, Bedoukian, Erin C, O'Neil, Ian D, Krantz, Sabrina W, Yum, Grant T, Liu, Tomas S, Aleman   +6 more
openaire   +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).
Jose A, Sanchez, Rebecca, Traub, Steven P, Trau, James F, Howard   +3 more
openaire   +2 more sources

Development of a Riboflavin-Responsive Model of Riboflavin Transporter Deficiency in Zebrafish

Human Molecular Genetics
Abstract Riboflavin transporter deficiency (RTD) is a rare and progressive neurodegenerative disease resulting from the disruption of RFVT2- and RFVT3- mediated riboflavin transport caused by biallelic mutations in SLC52A2 and SLC52A3, respectively.
Izabella Pena, Sally Spendiff, Alicia DiBattista   +2 more
exaly   +3 more sources