Results 141 to 150 of about 17,684 (152)

Normal Outcome With Prenatal Intervention for Riboflavin Transporter Defect

Pediatric Neurology, 2023
Jo M Wilmshurst, Sharika Raga
exaly  

Atypical phenotypic characteristics, mutation analysis and treatment in a family of riboflavin transporter deficiency caused by SLC52A3 variants.

Human Molecular Genetics
Peipei Li, Ting Zhang, Hongen Xu, Mengwei Zhao, Yingying Wang, Ziwen Zhao, Mengli Zhang, Xingle Zhao, Bei Chen   +8 more
semanticscholar   +1 more source

The Clinical Journey of Patients with Riboflavin Transporter Deficiency Type 2

Journal of Child Neurology, 2020
Fatima Amir, Carrie Atzinger, Keith Massey   +2 more
exaly  

A case report of sudden-onset auditory neuropathy spectrum disorder associated with Brown-Vialetto-Van Laere syndrome (riboflavin transporter deficiency)

International Journal of Audiology, 2022
Zühal Yapıcı
exaly  

Riboflavin Transporter Deficiency: Effectiveness of High Dose Riboflavin Therapy and Clinical Trial Readiness

Riboflavin Transporter Deficiency (RTD) is a progressive inherited neuropathy of childhood onset characterised clinically by bulbar palsy, limb muscle weakness, sensorineural hearing loss, visual impairment, sensory ataxia and respiratory compromise. Without treatment, the condition progresses relentlessly resulting in early death due to respiratory ...
openaire   +1 more source

Epidemiology of Riboflavin Transporter Deficiency (RTD)

2017
openaire   +1 more source

Auditory Neuropathy in Riboflavin Transporter Deficiency

2017
openaire   +1 more source

Riboflavin Transporter Deficiency Presentation, Genetics and Treatment

2019
openaire   +1 more source

Co-existing riboflavin transporter deficiency (RTD) type 2 and muscle AMP deaminase deficiency in two long-term RTD survivors: report of a family (P4.4-033)

Neurology, 2019
Lin Zhang, Dominic Thyagarajan
semanticscholar   +1 more source

Faculty Opinions recommendation of An update on the genetics, clinical presentation, and pathomechanisms of human riboflavin transporter deficiency.

Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature, 2019
M. Menezes
semanticscholar   +1 more source