Siri B - Search Results

1

Neurologic outcome following liver transplantation for methylmalonic aciduria.

Martinelli D, Catesini G, Greco B, Guarnera A, Parrillo C, Maines E, Longo D, Napolitano A, De Nictolis F, Cairoli S, Liccardo D, Caviglia S, Sidorina A, Olivieri G, Siri B, Bianchi R, Spagnoletti G, Dello Strologo L, Spada M, Dionisi-Vici C. Martinelli D, et al. Among authors: siri b. J Inherit Metab Dis. 2023 May;46(3):450-465. doi: 10.1002/jimd.12599. Epub 2023 Mar 15. J Inherit Metab Dis. 2023. PMID: 36861405

2

The challenge of extraabdominal desmoid tumour management in patients with Gardner's syndrome: radiofrequency ablation, a promising option.

Cobianchi L, Ravetta V, Viera FT, Filisetti C, Siri B, Segalini E, Maestri M, Dominioni T, Alessiani M, Rossi S, Dionigi P. Cobianchi L, et al. Among authors: siri b. World J Surg Oncol. 2014 Nov 27;12:361. doi: 10.1186/1477-7819-12-361. World J Surg Oncol. 2014. PMID: 25429890 Free PMC article.

3

The diagnostic challenge of mild citrulline elevation at newborn screening.

Siri B, Olivieri G, Angeloni A, Cairoli S, Carducci C, Cotugno G, Di Michele S, Giovanniello T, La Marca G, Lepri FR, Novelli A, Rossi C, Semeraro M, Dionisi-Vici C. Siri B, et al. Mol Genet Metab. 2022 Apr;135(4):327-332. doi: 10.1016/j.ymgme.2022.02.008. Epub 2022 Feb 20. Mol Genet Metab. 2022. PMID: 35279366

4

Natural history of epilepsy in argininosuccinic aciduria provides new insights into pathophysiology: A retrospective international study.

Elkhateeb N, Olivieri G, Siri B, Boyd S, Stepien KM, Sharma R, Morris AAM, Hartley T, Crowther L, Grunewald S, Cleary M, Mundy H, Chakrapani A, Lachmann R, Murphy E, Santra S, Uudelepp ML, Yeo M, Bernhardt I, Sudakhar S, Chan A, Mills P, Ridout D, Gissen P, Dionisi-Vici C, Baruteau J. Elkhateeb N, et al. Among authors: siri b. Epilepsia. 2023 Jun;64(6):1612-1626. doi: 10.1111/epi.17596. Epub 2023 Apr 10. Epilepsia. 2023. PMID: 36994644

5

Adrenocortical function in patients with Single Large Scale Mitochondrial DNA Deletions: a retrospective single centre cohort study.

Siri B, D'Alessandro A, Maiorana A, Porzio O, Ravà L, Dionisi-Vici C, Cappa M, Martinelli D. Siri B, et al. Eur J Endocrinol. 2023 Nov 8;189(5):485-494. doi: 10.1093/ejendo/lvad137. Eur J Endocrinol. 2023. PMID: 37815532

6

Father-to-daughter transmission in late-onset OTC deficiency: an underestimated mechanism of inheritance of an X-linked disease.

Siri B, Olivieri G, Lepri FR, Poms M, Goffredo BM, Commone A, Novelli A, Häberle J, Dionisi-Vici C. Siri B, et al. Orphanet J Rare Dis. 2024 Jan 2;19(1):3. doi: 10.1186/s13023-023-02997-8. Orphanet J Rare Dis. 2024. PMID: 38167094 Free PMC article.

7

Long-Term Management of Patients with Mild Urea Cycle Disorders Identified through the Newborn Screening: An Expert Opinion for Clinical Practice.

Burlina A, Gasperini S, la Marca G, Pession A, Siri B, Spada M, Ruoppolo M, Tummolo A. Burlina A, et al. Among authors: siri b. Nutrients. 2023 Dec 20;16(1):13. doi: 10.3390/nu16010013. Nutrients. 2023. PMID: 38201843 Free PMC article.

8

SLC25A19 deficiency and bilateral striatal necrosis with polyneuropathy: a new case and review of the literature.

Porta F, Siri B, Chiesa N, Ricci F, Nika L, Sciortino P, Spada M. Porta F, et al. Among authors: siri b. J Pediatr Endocrinol Metab. 2020 Nov 19;34(2):261-266. doi: 10.1515/jpem-2020-0139. Print 2021 Feb 23. J Pediatr Endocrinol Metab. 2020. PMID: 33544541 Review.

9

CDKL5 deficiency disorder in males: Five new variants and review of the literature.

Siri B, Varesio C, Freri E, Darra F, Gana S, Mei D, Porta F, Fontana E, Galati G, Solazzi R, Niceta M, Veggiotti P, Alfei E. Siri B, et al. Eur J Paediatr Neurol. 2021 Jul;33:9-20. doi: 10.1016/j.ejpn.2021.04.007. Epub 2021 Apr 30. Eur J Paediatr Neurol. 2021. PMID: 33989939 Review.

10

Movement disorders in MCT8 deficiency/Allan-Herndon-Dudley Syndrome.

Masnada S, Sarret C, Antonello CE, Fadilah A, Krude H, Mura E, Mordekar S, Nicita F, Olivotto S, Orcesi S, Porta F, Remerand G, Siri B, Wilpert NM, Amir-Yazdani P, Bertini E, Schuelke M, Bernard G, Boespflug-Tanguy O, Tonduti D. Masnada S, et al. Among authors: siri b. Mol Genet Metab. 2022 Jan;135(1):109-113. doi: 10.1016/j.ymgme.2021.12.003. Epub 2021 Dec 16. Mol Genet Metab. 2022. PMID: 34969638

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