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Expanding the genetic and phenotypic spectrum of CHD2-related disease: From early neurodevelopmental disorders to adult-onset epilepsy.
Am J Med Genet A. 2022 Feb;188(2):522-533. doi: 10.1002/ajmg.a.62548. Epub 2021 Oct 29.
Am J Med Genet A. 2022.
PMID: 34713950
DNAJC12 deficiency: Mild hyperphenylalaninemia and neurological impairment in two siblings.
Fino E, Barbato A, Scaturro GM, Procopio E, Balestrini S.
Fino E, et al. Among authors: scaturro gm.
Mol Genet Metab Rep. 2023 Sep 19;37:101008. doi: 10.1016/j.ymgmr.2023.101008. eCollection 2023 Dec.
Mol Genet Metab Rep. 2023.
PMID: 38053929
Free PMC article.
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Additive effect of DNAJC30 and NDUFA9 mutations causing Leigh syndrome.
Nesti C, Ticci C, Rubegni A, Doccini S, Scaturro G, Vetro A, Guerrini R, Santorelli FM, Procopio E.
Nesti C, et al.
J Neurol. 2023 Jun;270(6):3266-3269. doi: 10.1007/s00415-023-11673-7. Epub 2023 Mar 20.
J Neurol. 2023.
PMID: 36939934
No abstract available.
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Transition to glycerol phenylbutyrate for the management of urea cycle disorders: clinical experiences.
Sacchini M, Procopio E, Pochiero F, Scaturro G, Daniotti M, Donati MA.
Sacchini M, et al.
Eur Rev Med Pharmacol Sci. 2023 Nov;27(22):11131-11142. doi: 10.26355/eurrev_202311_34483.
Eur Rev Med Pharmacol Sci. 2023.
PMID: 38039045
Free article.
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Digital droplet PCR versus quantitative PCR for lipoprotein (a) kringle IV type 2 repeat polymorphism genetic characterization.
Barbieri G, Cassioli G, Kura A, Orsi R, Magi A, Berteotti M, Scaturro GM, Lotti E, Gori AM, Marcucci R, Giusti B, Sticchi E.
Barbieri G, et al. Among authors: scaturro gm.
J Clin Lab Anal. 2024 Mar;38(5):e24998. doi: 10.1002/jcla.24998. Epub 2024 Mar 5.
J Clin Lab Anal. 2024.
PMID: 38444303
Free PMC article.
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Communicating a Positive Result at Newborn Screening and Parental Distress.
Lastrucci E, Daniotti M, Procopio E, Scaturro G, Tubili F, Martin R, la Marca G.
Lastrucci E, et al.
Int J Neonatal Screen. 2023 Jul 14;9(3):38. doi: 10.3390/ijns9030038.
Int J Neonatal Screen. 2023.
PMID: 37489491
Free PMC article.
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