Gragnaniello V - Search Results

1

Chromatographic and radioimmunological methods for the determination of 5'-deoxy-5'-methylthioadenosine in biological fluids.

Della Ragione F, Oliva A, Gragnaniello V, Fioretti M, Fioretti A, Menna LF, Papparella V, Zappia V. Della Ragione F, et al. Among authors: gragnaniello v. J Chromatogr. 1988 May 25;440:141-9. doi: 10.1016/s0021-9673(00)94518-7. J Chromatogr. 1988. PMID: 3403660

2

Understanding the Pathogenesis of Cardiac Complications in Patients with Propionic Acidemia and Exploring Therapeutic Alternatives for Those Who Are Not Eligible or Are Waiting for Liver Transplantation.

Maines E, Moretti M, Vitturi N, Gugelmo G, Fasan I, Lenzini L, Piccoli G, Gragnaniello V, Maiorana A, Soffiati M, Burlina A, Franceschi R. Maines E, et al. Among authors: gragnaniello v. Metabolites. 2023 Apr 16;13(4):563. doi: 10.3390/metabo13040563. Metabolites. 2023. PMID: 37110221 Free PMC article. Review.

3

Unusual Evolution of Hypertrophic Cardiomyopathy in Non-Compaction Myocardium in a Pompe Disease Patient.

Gragnaniello V, Rizzardi C, Commone A, Gueraldi D, Maines E, Salviati L, Di Salvo G, Burlina AB. Gragnaniello V, et al. J Clin Med. 2023 Mar 19;12(6):2365. doi: 10.3390/jcm12062365. J Clin Med. 2023. PMID: 36983365 Free PMC article.

4

Triheptanoin in patients with long-chain fatty acid oxidation disorders: clinical experience in Italy.

Porta F, Maiorana A, Gragnaniello V, Procopio E, Gasperini S, Taurisano R, Spada M, Dionisi-Vici C, Burlina A. Porta F, et al. Among authors: gragnaniello v. Ital J Pediatr. 2024 Oct 7;50(1):204. doi: 10.1186/s13052-024-01782-y. Ital J Pediatr. 2024. PMID: 39375714 Free PMC article.

5

Non-Hodgkin lymphoma in a kidney transplanted patient with methylmalonic acidemia: Metabolic susceptibility and the role of immunosuppression.

Burlina AB, Burlina AP, Mignani R, Cazzorla C, Gueraldi D, Puma A, Loro C, Baumgartner MR, Gragnaniello V. Burlina AB, et al. Among authors: gragnaniello v. JIMD Rep. 2024 Jan 10;65(2):56-62. doi: 10.1002/jmd2.12411. eCollection 2024 Mar. JIMD Rep. 2024. PMID: 38444575 Free PMC article.

6

Avalglucosidase alfa in infantile-onset Pompe disease: A snapshot of real-world experience in Italy.

Fiumara A, Sapuppo A, Gasperini S, Crescitelli V, Sacchini M, Procopio E, Gragnaniello V, Burlina A. Fiumara A, et al. Among authors: gragnaniello v. Mol Genet Metab Rep. 2024 Jul 26;40:101126. doi: 10.1016/j.ymgmr.2024.101126. eCollection 2024 Sep. Mol Genet Metab Rep. 2024. PMID: 39161458 Free PMC article.

7

Effect of enzyme substitution therapy on brain magnetic resonance imaging and cognition in adults with phenylketonuria: A case series of three patients.

Burlina AP, Manara R, Carretta J, Cazzorla C, Loro C, Gragnaniello V, Burlina AB. Burlina AP, et al. Among authors: gragnaniello v. Eur J Neurol. 2024 Dec;31(12):e16508. doi: 10.1111/ene.16508. Epub 2024 Oct 4. Eur J Neurol. 2024. PMID: 39364650 Free PMC article.

8

Long-term follow-up of a patient with neonatal form of Gaucher disease.

Gragnaniello V, Cazzorla C, Gueraldi D, Loro C, Massa P, Puma A, Cananzi M, Salviati L, Burlina AP, Burlina AB. Gragnaniello V, et al. Am J Med Genet A. 2023 Jul;191(7):1917-1922. doi: 10.1002/ajmg.a.63196. Epub 2023 Apr 3. Am J Med Genet A. 2023. PMID: 37009750

9

Newborn Screening for Fabry Disease: Current Status of Knowledge.

Gragnaniello V, Burlina AP, Commone A, Gueraldi D, Puma A, Porcù E, Stornaiuolo M, Cazzorla C, Burlina AB. Gragnaniello V, et al. Int J Neonatal Screen. 2023 Jun 5;9(2):31. doi: 10.3390/ijns9020031. Int J Neonatal Screen. 2023. PMID: 37367212 Free PMC article. Review.

10

Variant in the allosteric domain of CPS1 protein associated with effectiveness of N-carbamoyl glutamate therapy in neonatal onset CPS1 deficiency.

Gragnaniello V, Gueraldi D, Puma A, Commone A, Loro C, Cazzorla C, Häberle J, Burlina AB. Gragnaniello V, et al. J Pediatr Endocrinol Metab. 2023 Jul 10;36(9):873-878. doi: 10.1515/jpem-2023-0210. Print 2023 Sep 26. J Pediatr Endocrinol Metab. 2023. PMID: 37427576

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