Gragnaniello V - Search Results

1

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

2

Deficiency of 5'-deoxy-5'-methylthioadenosine phosphorylase activity in malignancy. Absence of the protein in human enzyme-deficient cell lines.

Della Ragione F, Oliva A, Palumbo R, Russo GL, Gragnaniello V, Zappia V. Della Ragione F, et al. Among authors: gragnaniello v. Biochem J. 1992 Jan 15;281 ( Pt 2)(Pt 2):533-8. doi: 10.1042/bj2810533. Biochem J. 1992. PMID: 1736901 Free PMC article.

3

Purification and characterization of 5'-deoxy-5'-methylthioadenosine phosphorylase from human placenta.

Della Ragione F, Cartenì-Farina M, Gragnaniello V, Schettino MI, Zappia V. Della Ragione F, et al. Among authors: gragnaniello v. J Biol Chem. 1986 Sep 15;261(26):12324-9. J Biol Chem. 1986. PMID: 3091600 Free article.

4

Steroid therapy in an alpha-dystroglycanopathy due to GMPPB gene mutations: A case report.

Fecarotta S, Gragnaniello V, Della Casa R, Romano A, Raiano E, Torella A, Savarese M, Nigro V, Strisciuglio P, Andria G, Parenti G. Fecarotta S, et al. Among authors: gragnaniello v. Neuromuscul Disord. 2018 Nov;28(11):956-960. doi: 10.1016/j.nmd.2018.07.001. Epub 2018 Jul 19. Neuromuscul Disord. 2018. PMID: 30126629

5

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

6

Physicochemical and immunological studies on mammalian 5'-deoxy-5'-methylthioadenosine phosphorylase.

Della Ragione F, Oliva A, Gragnaniello V, Russo GL, Palumbo R, Zappia V. Della Ragione F, et al. Among authors: gragnaniello v. J Biol Chem. 1990 Apr 15;265(11):6241-6. J Biol Chem. 1990. PMID: 2108157 Free article.

7

Human 5'-deoxy-5'-methylthioadenosine phosphorylase: kinetic studies and catalytic mechanism.

Zappia V, Della Ragione F, Pontoni G, Gragnaniello V, Cartenì-Farina M. Zappia V, et al. Among authors: gragnaniello v. Adv Exp Med Biol. 1988;250:165-77. doi: 10.1007/978-1-4684-5637-0_15. Adv Exp Med Biol. 1988. PMID: 3151224 Review. No abstract available.

8

Effects of antiepileptic therapy on bone mineral status evaluated by phalangeal quantitative ultrasound in pediatric patients with epilepsy and motor impairment.

Terrone G, Gragnaniello V, Esposito A, Del Puente A, Del Giudice E. Terrone G, et al. Among authors: gragnaniello v. Minerva Pediatr (Torino). 2023 Aug;75(4):476-481. doi: 10.23736/S2724-5276.18.05235-0. Epub 2019 May 23. Minerva Pediatr (Torino). 2023. PMID: 31129950

9

Report of Five Years of Experience in Neonatal Screening for Mucopolysaccharidosis Type I and Review of the Literature.

Gragnaniello V, Gueraldi D, Rubert L, Manzoni F, Cazzorla C, Giuliani A, Polo G, Salviati L, Burlina A. Gragnaniello V, et al. Int J Neonatal Screen. 2020 Nov 2;6(4):85. doi: 10.3390/ijns6040085. Int J Neonatal Screen. 2020. PMID: 33147872 Free PMC article.

10

Detection of 3-O-methyldopa in dried blood spots for neonatal diagnosis of aromatic L-amino-acid decarboxylase deficiency: The northeastern Italian experience.

Burlina A, Giuliani A, Polo G, Gueraldi D, Gragnaniello V, Cazzorla C, Opladen T, Hoffmann G, Blau N, Burlina AP. Burlina A, et al. Among authors: gragnaniello v. Mol Genet Metab. 2021 May;133(1):56-62. doi: 10.1016/j.ymgme.2021.03.009. Epub 2021 Mar 13. Mol Genet Metab. 2021. PMID: 33744095

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