BVVLS2 overlooked for 3 years in a pediatric patient caused by novel compound heterozygous mutations in SLC52A2 gene

Riboflavin in Neurological Diseases: A Narrative Review

(2021) Domenico Plantone et al.   CLINICAL DRUG INVESTIGATION

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

(2020) Nishitha R. Pillai et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

An update on the genetics, clinical presentation, and pathomechanisms of human riboflavin transporter deficiency

(2019) Benjamin O'Callaghan et al.   JOURNAL OF INHERITED METABOLIC DISEASE

A Chinese pedigree with Brown-Vialetto-Van Laere syndrome due to two novel mutations of SLC52A2 gene: clinical course and response to riboflavin

(2019) Kaili Shi et al.   BMC Medical Genetics

The Clinical Journey of Patients with Riboflavin Transporter Deficiency Type 2

(2019) Fatima Amir et al.   JOURNAL OF CHILD NEUROLOGY

Genetic, Radiologic, and Clinical Variability in Brown-Vialetto-van Laere Syndrome

(2018) Ian R. Woodcock et al.   Seminars in Pediatric Neurology

Riboflavin transport and metabolism in humans

(2016) Maria Barile et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2

(2013) A. Reghan Foley et al.   BRAIN

Exome sequencing reveals riboflavin transporter mutations as a cause of motor neuron disease

(2012) Janel O. Johnson et al.   BRAIN

Impaired riboflavin transport due to missense mutations in SLC52A2 causes Brown-Vialetto-Van Laere syndrome

(2012) Tobias B. Haack et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Brown-Vialetto-Van Laere Syndrome, a Ponto-Bulbar Palsy with Deafness, Is Caused by Mutations in C20orf54

(2010) Peter Green et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Brown-Vialetto-Van Laere and Fazio Londe syndrome is associated with a riboflavin transporter defect mimicking mild MADD: a new inborn error of metabolism with potential treatment

(2010) Annet M. Bosch et al.   JOURNAL OF INHERITED METABOLIC DISEASE