Author

M. Votruba

3 papers indexed here

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Open access Oct 2026

Hypomorphic IDUA genotypes are associated with retinitis pigmentosa in individuals without syndromic mucopolysaccharidosis type I.

Bi-allelic variants in IDUA classically cause mucopolysaccharidosis type I (MPS I), a multisystem lysosomal storage disorder. This study describes 14 individuals from 12 families presenting with retinitis pigmentosa, later attributed to bi-allelic IDUA genotypes. Notably, seven individuals, despite comprehensive system...

Si-Ying Lin, Seok-Ho Yu, Andrew C. Browning et al. · American Journal of Human Ge... · 0 citations

Open access Aug 2026

Oral glycoside supplement (triterpenoid saponins) for early and intermediate stage age-related macular degeneration (SAMADI trial): study protocol for a double masked randomised placebo-controlled feasibility trial

The primary aim of the SAMADI [SAponins for MAcular DIsease] trial is to establish whether treatment of age-related macular degeneration (AMD) with oral saponin supplements is feasible and acceptable to participants. AMD is a progressive disease, which results in the death and dysfunction of cells in the outer re...

A. Binns, Ashley Wood, Sarah Burns et al. · Pilot and Feasibility Studie... · 0 citations

Open access Sep 2026

Reanalysis of genomic data doubles the diagnostic yield for Welsh patients recruited to the UK 100,000 Genomes Project.

The 100,000 Genomes Project (100KGP) undertook genome sequencing of patients with rare diseases and cancer to study the role that genes play in disease, and to integrate genomics into UK healthcare. To contribute to 100KGP, the Wales Genomic Medicine Centre (a partnership between the NHS All Wales Medical Genomics Serv...

J. Ježková, M. Mcclatchey, Sophie Shaw et al. · European Journal of Human Ge... · 0 citations