Cazzorla C - Search Results

1

Expanded Newborn Screening in Italy Using Tandem Mass Spectrometry: Two Years of National Experience.

Ruoppolo M, Malvagia S, Boenzi S, Carducci C, Dionisi-Vici C, Teofoli F, Burlina A, Angeloni A, Aronica T, Bordugo A, Bucci I, Camilot M, Carbone MT, Cardinali R, Carducci C, Cassanello M, Castana C, Cazzorla C, Ciatti R, Ferrari S, Frisso G, Funghini S, Furlan F, Gasperini S, Gragnaniello V, Guzzetti C, La Marca G, La Spina L, Lorè T, Meli C, Messina M, Morrone A, Nardecchia F, Ortolano R, Parenti G, Pavanello E, Pieragostino D, Pillai S, Porta F, Righetti F, Rossi C, Rovelli V, Salina A, Santoro L, Sauro P, Schiaffino MC, Simonetti S, Vincenzi M, Tarsi E, Uccheddu AP. Ruoppolo M, et al. Among authors: cazzorla c. Int J Neonatal Screen. 2022 Aug 9;8(3):47. doi: 10.3390/ijns8030047. Int J Neonatal Screen. 2022. PMID: 35997437 Free PMC article.

2

Long-term follow-up results in enzyme replacement therapy for Pompe disease: a case report.

Del Rizzo M, Fanin M, Cerutti A, Cazzorla C, Milanesi O, Nascimbeni AC, Angelini C, Giordano L, Bordugo A, Burlina AB. Del Rizzo M, et al. Among authors: cazzorla c. J Inherit Metab Dis. 2010 Dec;33 Suppl 3:S389-93. doi: 10.1007/s10545-010-9195-2. Epub 2010 Sep 10. J Inherit Metab Dis. 2010. PMID: 20830524

3

Metabolic stroke in a late-onset form of isolated sulfite oxidase deficiency.

Del Rizzo M, Burlina AP, Sass JO, Beermann F, Zanco C, Cazzorla C, Bordugo A, Giordano L, Manara R, Burlina AB. Del Rizzo M, et al. Among authors: cazzorla c. Mol Genet Metab. 2013 Apr;108(4):263-6. doi: 10.1016/j.ymgme.2013.01.011. Epub 2013 Jan 27. Mol Genet Metab. 2013. PMID: 23414711

4

The long-term treatment of a patient with type 1 diabetes mellitus and glutaric aciduria type 1: the effect of insulin.

Del Rizzo M, Galderisi A, Celato A, Furlan F, Giordano L, Cazzorla C, Fasan I, Moretti C, Zschocke J, Burlina AB. Del Rizzo M, et al. Among authors: cazzorla c. Eur J Pediatr. 2016 Aug;175(8):1123-8. doi: 10.1007/s00431-016-2699-5. Epub 2016 Feb 5. Eur J Pediatr. 2016. PMID: 26847429

5

Clinical experience with N-carbamylglutamate in a single-centre cohort of patients with propionic and methylmalonic aciduria.

Burlina A, Cazzorla C, Zanonato E, Viggiano E, Fasan I, Polo G. Burlina A, et al. Among authors: cazzorla c. Mol Genet Metab Rep. 2016 Jul 13;8:34-40. doi: 10.1016/j.ymgmr.2016.06.007. eCollection 2016 Sep. Mol Genet Metab Rep. 2016. PMID: 27489777 Free PMC article.

6

Newborn screening for lysosomal storage disorders by tandem mass spectrometry in North East Italy.

Burlina AB, Polo G, Salviati L, Duro G, Zizzo C, Dardis A, Bembi B, Cazzorla C, Rubert L, Zordan R, Desnick RJ, Burlina AP. Burlina AB, et al. Among authors: cazzorla c. J Inherit Metab Dis. 2018 Mar;41(2):209-219. doi: 10.1007/s10545-017-0098-3. Epub 2017 Nov 15. J Inherit Metab Dis. 2018. PMID: 29143201

7

The combined use of enzyme activity and metabolite assays as a strategy for newborn screening of mucopolysaccharidosis type I.

Polo G, Gueraldi D, Giuliani A, Rubert L, Cazzorla C, Salviati L, Marzollo A, Biffi A, Burlina AP, Burlina AB. Polo G, et al. Among authors: cazzorla c. Clin Chem Lab Med. 2020 Nov 26;58(12):2063-2072. doi: 10.1515/cclm-2020-0064. Clin Chem Lab Med. 2020. PMID: 32432561 Free article.

8

Implementation of Second-Tier Tests in Newborn Screening for Lysosomal Disorders in North Eastern Italy.

Burlina AB, Polo G, Rubert L, Gueraldi D, Cazzorla C, Duro G, Salviati L, Burlina AP. Burlina AB, et al. Among authors: cazzorla c. Int J Neonatal Screen. 2019 Jun 21;5(2):24. doi: 10.3390/ijns5020024. eCollection 2019 Jun. Int J Neonatal Screen. 2019. PMID: 33072983 Free PMC article.

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. Among authors: cazzorla c. 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: cazzorla c. 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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