Burlina AP - Search Results

1

Light and Shadows in Newborn Screening for Lysosomal Storage Disorders: Eight Years of Experience in Northeast Italy.

Gragnaniello V, Cazzorla C, Gueraldi D, Puma A, Loro C, Porcù E, Stornaiuolo M, Miglioranza P, Salviati L, Burlina AP, Burlina AB. Gragnaniello V, et al. Among authors: burlina ap. Int J Neonatal Screen. 2023 Dec 25;10(1):3. doi: 10.3390/ijns10010003. Int J Neonatal Screen. 2023. PMID: 38248631 Free PMC article.

2

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: burlina ap. 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.

3

Newborn Screening for Fabry Disease in Northeastern Italy: Results of Five Years of Experience.

Gragnaniello V, Burlina AP, Polo G, Giuliani A, Salviati L, Duro G, Cazzorla C, Rubert L, Maines E, Germain DP, Burlina AB. Gragnaniello V, et al. Among authors: burlina ab, burlina ap. Biomolecules. 2021 Jun 27;11(7):951. doi: 10.3390/biom11070951. Biomolecules. 2021. PMID: 34199132 Free PMC article.

4

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. Among authors: burlina ap. 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.

5

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: burlina ap. 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

6

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: burlina ab, burlina ap. 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.

7

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: burlina ap. 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

8

Bone disease in early detected Gaucher Type I disease: A case report.

Gragnaniello V, Burlina AP, Manara R, Cazzorla C, Rubert L, Gueraldi D, Toniolli E, Quaia E, Burlina AB. Gragnaniello V, et al. Among authors: burlina ab, burlina ap. JIMD Rep. 2022 Jun 26;63(5):414-419. doi: 10.1002/jmd2.12314. eCollection 2022 Sep. JIMD Rep. 2022. PMID: 36101816 Free PMC article.

9

Newborn screening for Pompe disease in Italy: Long-term results and future challenges.

Gragnaniello V, Pijnappel PWWM, Burlina AP, In 't Groen SLM, Gueraldi D, Cazzorla C, Maines E, Polo G, Salviati L, Di Salvo G, Burlina AB. Gragnaniello V, et al. Among authors: burlina ab, burlina ap. Mol Genet Metab Rep. 2022 Oct 22;33:100929. doi: 10.1016/j.ymgmr.2022.100929. eCollection 2022 Dec. Mol Genet Metab Rep. 2022. PMID: 36310651 Free PMC article.

10

Large Neutral Amino Acid Therapy Increases Tyrosine Levels in Adult Patients with Phenylketonuria: A Long-Term Study.

Burlina AP, Cazzorla C, Massa P, Polo G, Loro C, Gueraldi D, Burlina AB. Burlina AP, et al. Among authors: burlina ab. Nutrients. 2019 Oct 21;11(10):2541. doi: 10.3390/nu11102541. Nutrients. 2019. PMID: 31640267 Free PMC article.

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