Publications
Beyond the tubule: pathological variants of , encoding the megalin receptor, result in glomerular loss and early progressive chronic kidney disease. Am J Physiol Renal Physiol 319, F988-F999 (2020).
An Expanded Multi-Organ Disease Phenotype Associated with Mutations in YARS. Genes (Basel) 8, (2017).
Oral therapy for riboflavin transporter deficiency - What is the regimen of choice?. Parkinsonism Relat Disord 61, 245-247 (2019).