Polo G - Search Results

1

Clinical, biochemical and molecular characterization of prosaposin deficiency.

Motta M, Tatti M, Furlan F, Celato A, Di Fruscio G, Polo G, Manara R, Nigro V, Tartaglia M, Burlina A, Salvioli R. Motta M, et al. Among authors: polo g. Clin Genet. 2016 Sep;90(3):220-9. doi: 10.1111/cge.12753. Epub 2016 Feb 19. Clin Genet. 2016. PMID: 26831127

2

Quality of Life (QoL) assessment in a cohort of patients with phenylketonuria.

Cazzorla C, Cegolon L, Burlina AP, Celato A, Massa P, Giordano L, Polo G, Daniele A, Salvatore F, Burlina AB. Cazzorla C, et al. Among authors: polo g. BMC Public Health. 2014 Dec 4;14:1243. doi: 10.1186/1471-2458-14-1243. BMC Public Health. 2014. PMID: 25471331 Free PMC article.

3

High level of oxysterols in neonatal cholestasis: a pitfall in analysis of biochemical markers for Niemann-Pick type C disease.

Polo G, Burlina A, Furlan F, Kolamunnage T, Cananzi M, Giordano L, Zaninotto M, Plebani M, Burlina A. Polo G, et al. Clin Chem Lab Med. 2016 Jul 1;54(7):1221-9. doi: 10.1515/cclm-2015-0669. Clin Chem Lab Med. 2016. PMID: 26650075

4

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: polo g. 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.

5

Diagnosis of sphingolipidoses: a new simultaneous measurement of lysosphingolipids by LC-MS/MS.

Polo G, Burlina AP, Kolamunnage TB, Zampieri M, Dionisi-Vici C, Strisciuglio P, Zaninotto M, Plebani M, Burlina AB. Polo G, et al. Clin Chem Lab Med. 2017 Mar 1;55(3):403-414. doi: 10.1515/cclm-2016-0340. Clin Chem Lab Med. 2017. PMID: 27533120 Free article.

6

The Utility of CSF for the Diagnosis of Primary and Secondary Monoamine Neurotransmitter Deficiencies.

Burlina AB, Celato A, Polo G, Edini C, Burlina AP. Burlina AB, et al. Among authors: polo g. EJIFCC. 2017 Mar 8;28(1):64-76. eCollection 2017 Mar. EJIFCC. 2017. PMID: 28439219 Free PMC article.

7

Living with phenylketonuria in adulthood: The PKU ATTITUDE study.

Cazzorla C, Bensi G, Biasucci G, Leuzzi V, Manti F, Musumeci A, Papadia F, Stoppioni V, Tummolo A, Vendemiale M, Polo G, Burlina A. Cazzorla C, et al. Among authors: polo g. Mol Genet Metab Rep. 2018 Jul 11;16:39-45. doi: 10.1016/j.ymgmr.2018.06.007. eCollection 2018 Sep. Mol Genet Metab Rep. 2018. PMID: 30069431 Free PMC article.

8

Newborn screening in mucopolysaccharidoses.

Donati MA, Pasquini E, Spada M, Polo G, Burlina A. Donati MA, et al. Among authors: polo g. Ital J Pediatr. 2018 Nov 16;44(Suppl 2):126. doi: 10.1186/s13052-018-0552-3. Ital J Pediatr. 2018. PMID: 30442156 Free PMC article. Review.

9

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. 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.

10

Correction to: Newborn screening in mucopolysaccharidoses.

Donati MA, Pasquini E, Spada M, Polo G, Burlina A. Donati MA, et al. Among authors: polo g. Ital J Pediatr. 2019 Jun 11;45(1):71. doi: 10.1186/s13052-019-0665-3. Ital J Pediatr. 2019. PMID: 31186032 Free PMC article.

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