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A new family with a case of severe early-onset muscle fatigue and a peculiar maternally inherited painful swelling in chewing muscles associated with homoplasmic m.15992A>T mutation in mitochondrial tRNAPro.
Ghirigato E, Terenzi F, Baglivo M, Zanetti N, Baldo F, Murru FM, Bobbo M, Barbi E, Zeviani M, Bruno I, Lamantea E. Ghirigato E, et al. Among authors: baldo f. Neuromuscul Disord. 2023 Dec;33(12):972-977. doi: 10.1016/j.nmd.2023.11.001. Epub 2023 Nov 4. Neuromuscul Disord. 2023. PMID: 38030461
A child without kneecaps.
Baldo F, Magnolato A, Bruno I, Faletra F, Carbone M, Barbi E. Baldo F, et al. J Paediatr Child Health. 2021 May 7. doi: 10.1111/jpc.15519. Online ahead of print. J Paediatr Child Health. 2021. PMID: 33961326 No abstract available.
Delayed pubarche.
Baldo F, Barbi E, Tornese G. Baldo F, et al. Ital J Pediatr. 2021 Sep 6;47(1):180. doi: 10.1186/s13052-021-01134-0. Ital J Pediatr. 2021. PMID: 34488834 Free PMC article. Review.
Perineal groove: A rare congenital malformation.
Servidio AG, Baldo F, Barbi E. Servidio AG, et al. Among authors: baldo f. Pediatr Neonatol. 2022 Mar;63(2):192-193. doi: 10.1016/j.pedneo.2021.09.002. Epub 2021 Oct 7. Pediatr Neonatol. 2022. PMID: 34674971 Free article. No abstract available.
81 results