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An Italian case series' description of thiamine responsive megaloblastic anemia syndrome: importance of early diagnosis and treatment.
Di Candia F, Di Iorio V, Tinto N, Bonfanti R, Iovino C, Rosanio FM, Fedi L, Iafusco F, Arrigoni F, Malesci R, Simonelli F, Rigamonti A, Franzese A, Mozzillo E. Di Candia F, et al. Among authors: simonelli f. Ital J Pediatr. 2023 Nov 30;49(1):158. doi: 10.1186/s13052-023-01553-1. Ital J Pediatr. 2023. PMID: 38037112 Free PMC article.
Variants in the AGBL5 gene are responsible for autosomal recessive Retinitis pigmentosa with hearing loss.
Karali M, García-García G, Kaminska K, AlTalbishi A, Cancellieri F, Testa F, Barillari MR, Panagiotou ES, Psillas G, Vaclavik V, Tran VH, Janeschitz-Kriegl L, Scholl HP, Salameh M, Barberán-Martínez P, Rodríguez-Muñoz A, Armengot M, Scarpato M, Zeuli R, Quinodoz M, Simonelli F, Rivolta C, Banfi S, Millán JM. Karali M, et al. Among authors: simonelli f. Eur J Hum Genet. 2024 Dec 13. doi: 10.1038/s41431-024-01768-8. Online ahead of print. Eur J Hum Genet. 2024. PMID: 39672920
261 results