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Page 1
An asymptomatic father diagnosed with 3-methylcrotonyl-CoA carboxylase deficiency following his son newborn screening test.
Terracciano R, Ruoppolo M, Barretta F, Albano L, Crisci D, Gallo G, Uomo F, Strisciuglio P, Parenti G, Frisso G, Rossi A. Terracciano R, et al. Among authors: strisciuglio p. Mol Genet Metab Rep. 2024 Jul 4;40:101116. doi: 10.1016/j.ymgmr.2024.101116. eCollection 2024 Sep. Mol Genet Metab Rep. 2024. PMID: 39055105 Free PMC article.
Digital microfluidic platform for dried blood spot newborn screening of lysosomal storage diseases in Campania region (Italy): Findings from the first year pilot project.
Scarcella M, Fecarotta S, Alagia M, Barretta F, Uomo F, De Pasquale V, Patel HS, Strisciuglio P, Parenti G, Frisso G, Pavone LM, Ruoppolo M. Scarcella M, et al. Among authors: strisciuglio p. Mol Genet Metab. 2024 Dec 31:109008. doi: 10.1016/j.ymgme.2024.109008. Online ahead of print. Mol Genet Metab. 2024. PMID: 39788860 Free article.
Frequency of genetic defects in combined pituitary hormone deficiency: a systematic review and analysis of a multicentre Italian cohort.
De Rienzo F, Mellone S, Bellone S, Babu D, Fusco I, Prodam F, Petri A, Muniswamy R, De Luca F, Salerno M, Momigliano-Richardi P, Bona G, Giordano M; Italian Study Group on Genetics of CPHD. De Rienzo F, et al. Clin Endocrinol (Oxf). 2015 Dec;83(6):849-60. doi: 10.1111/cen.12849. Epub 2015 Aug 6. Clin Endocrinol (Oxf). 2015. PMID: 26147833 Review.
Recurrent, founder and hypomorphic variants contribute to the genetic landscape of Joubert syndrome.
Serpieri V, Mortarini G, Loucks H, Biagini T, Micalizzi A, Palmieri I, Dempsey JC, D'Abrusco F, Mazzotta C, Battini R, Bertini ES, Boltshauser E, Borgatti R, Brockmann K, D'Arrigo S, Nardocci N, Fischetto R, Agolini E, Novelli A, Romano A, Romaniello R, Stanzial F, Signorini S, Strisciuglio P, Gana S, Mazza T, Doherty D, Valente EM. Serpieri V, et al. Among authors: strisciuglio p. J Med Genet. 2023 Sep;60(9):885-893. doi: 10.1136/jmg-2022-108725. Epub 2023 Feb 14. J Med Genet. 2023. PMID: 36788019 Free PMC article.
Endocrine system involvement in patients with RASopathies: A case series.
Siano MA, Pivonello R, Salerno M, Falco M, Mauro C, De Brasi D, Klain A, Sestito S, De Luca A, Pinna V, Simeoli C, Concolino D, Mainolfi CG, Mannarino T, Strisciuglio P, Tartaglia M, Melis D. Siano MA, et al. Among authors: strisciuglio p. Front Endocrinol (Lausanne). 2022 Nov 18;13:1030398. doi: 10.3389/fendo.2022.1030398. eCollection 2022. Front Endocrinol (Lausanne). 2022. PMID: 36483002 Free PMC article.
Long-term monitoring for short/branched-chain acyl-CoA dehydrogenase deficiency: A single-center 4-year experience and open issues.
Rossi A, Turturo M, Albano L, Fecarotta S, Barretta F, Crisci D, Gallo G, Perfetto R, Uomo F, Vallone F, Villani G, Strisciuglio P, Parenti G, Frisso G, Ruoppolo M. Rossi A, et al. Among authors: strisciuglio p. Front Pediatr. 2022 Sep 6;10:895921. doi: 10.3389/fped.2022.895921. eCollection 2022. Front Pediatr. 2022. PMID: 36147814 Free PMC article.
148 results