Rubert L - Search Results

1

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: rubert l. Biomolecules. 2021 Jun 27;11(7):951. doi: 10.3390/biom11070951. Biomolecules. 2021. PMID: 34199132 Free PMC article.

2

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: rubert l. 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

3

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: rubert l. 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.

4

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

5

Plasma and dried blood spot lysosphingolipids for the diagnosis of different sphingolipidoses: a comparative study.

Polo G, Burlina AP, Ranieri E, Colucci F, Rubert L, Pascarella A, Duro G, Tummolo A, Padoan A, Plebani M, Burlina AB. Polo G, et al. Among authors: rubert l. Clin Chem Lab Med. 2019 Nov 26;57(12):1863-1874. doi: 10.1515/cclm-2018-1301. Clin Chem Lab Med. 2019. PMID: 31091195 Free article.

6

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: rubert l. 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.

7

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: rubert l. 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.

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: rubert l. 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

Long-term use of carglumic acid in methylmalonic aciduria, propionic aciduria and isovaleric aciduria in Italy: a qualitative survey.

Burlina A, Bettocchi I, Biasucci G, Bordugo A, Gasperini S, La Spina L, Maines E, Meli C, Menni F, Paci S, Procopio E, Rossi A, Rubert L, Spada M, Tubili F, Tummolo A. Burlina A, et al. Among authors: rubert l. Eur Rev Med Pharmacol Sci. 2022 Jul;26(14):5136-5143. doi: 10.26355/eurrev_202207_29302. Eur Rev Med Pharmacol Sci. 2022. PMID: 35916811 Free article.

10

N-Acetylglutamate Synthase Deficiency Due to a Recurrent Sequence Variant in the N-acetylglutamate Synthase Enhancer Region.

Williams M, Burlina A, Rubert L, Polo G, Ruijter GJG, van den Born M, Rüfenacht V, Haskins N, van Zutven LJCM, Tuchman M, Saris JJ, Häberle J, Caldovic L. Williams M, et al. Among authors: rubert l. Sci Rep. 2018 Oct 18;8(1):15436. doi: 10.1038/s41598-018-33457-0. Sci Rep. 2018. PMID: 30337552 Free PMC article.

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