Gueraldi D - Search Results

1

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: gueraldi d. Nutrients. 2019 Oct 21;11(10):2541. doi: 10.3390/nu11102541. Nutrients. 2019. PMID: 31640267 Free PMC article.

2

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: gueraldi d. 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.

3

Long-term clinical outcome of 6-pyruvoyl-tetrahydropterin synthase-deficient patients.

Manti F, Nardecchia F, Banderali G, Burlina A, Carducci C, Carducci C, Donati MA, Gueraldi D, Paci S, Pochiero F, Porta F, Ortolano R, Rovelli V, Schiaffino MC, Spada M, Blau N, Leuzzi V. Manti F, et al. Among authors: gueraldi d. Mol Genet Metab. 2020 Sep-Oct;131(1-2):155-162. doi: 10.1016/j.ymgme.2020.06.009. Epub 2020 Jun 24. Mol Genet Metab. 2020. PMID: 32651154

4

The Impact of a Slow-Release Large Neutral Amino Acids Supplement on Treatment Adherence in Adult Patients with Phenylketonuria.

Burlina AP, Cazzorla C, Massa P, Loro C, Gueraldi D, Burlina AB. Burlina AP, et al. Among authors: gueraldi d. Nutrients. 2020 Jul 14;12(7):2078. doi: 10.3390/nu12072078. Nutrients. 2020. PMID: 32674279 Free PMC article.

5

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: gueraldi d. 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.

6

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: gueraldi d. Int J Neonatal Screen. 2020 Nov 2;6(4):85. doi: 10.3390/ijns6040085. Int J Neonatal Screen. 2020. PMID: 33147872 Free PMC 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: gueraldi d. 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

A new strategy of desensitization in mucopolysaccharidosis type II disease treated with idursulfase therapy: A case report and review of the literature.

Gragnaniello V, Carraro S, Rubert L, Gueraldi D, Cazzorla C, Massa P, Zanconato S, Burlina AB. Gragnaniello V, et al. Among authors: gueraldi d. Mol Genet Metab Rep. 2022 May 5;31:100878. doi: 10.1016/j.ymgmr.2022.100878. eCollection 2022 Jun. Mol Genet Metab Rep. 2022. PMID: 35782619 Free PMC article.

9

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: gueraldi d. 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.

10

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: gueraldi d. 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.

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