Associated Papers
Bilateral retinal dystrophy and unilateral hearing loss caused by mosaic phosphoribosyl pyrophosphate synthetase 1 deficiency: expanding the spectrum of an ultrarare neurometabolic disorder.
Prasun P et al.
Ophthalmic Genetics, 2025
Phosphoribosyl pyrophosphate synthetase 1 (PRPS1) associated retinal degeneration: an international study.
Uner OE et al.
Ophthalmic Genetics, 2025
Genomic and phenotypic landscapes of X-linked hereditary hearing loss in the Chinese population.
Feng H et al.
Orphanet Journal of Rare Diseases, 2024
Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings.
Schmidt A et al.
Nature Genetics, 2024
39039281 (PubMed )
Supplement: 41588_2024_1836_MOESM4_ESM.xlsx › S1
S-adenosylmethionine and nicotinamide riboside therapy in Arts syndrome: A case report and literature review.
Lee A et al.
Jimd Reports, 2023
Genetic diagnosis of childhood sensorineural hearing loss.
Reda Del Barrio S et al.
Acta Otorrinolaringologica Espanola, 0
Select a paper to view details