Sturiale L - Search Results

1

A nationwide survey of PMM2-CDG in Italy: high frequency of a mild neurological variant associated with the L32R mutation.

Barone R, Carrozzi M, Parini R, Battini R, Martinelli D, Elia M, Spada M, Lilliu F, Ciana G, Burlina A, Leuzzi V, Leoni M, Sturiale L, Matthijs G, Jaeken J, Di Rocco M, Garozzo D, Fiumara A. Barone R, et al. Among authors: sturiale l. J Neurol. 2015 Jan;262(1):154-64. doi: 10.1007/s00415-014-7549-7. Epub 2014 Oct 30. J Neurol. 2015. PMID: 25355454

2

Discrimination of isomeric oligosaccharides and sequencing of unknowns by post source decay matrix-assisted laser desorption/ionization time-of-flight mass spectrometry.

Garozzo D, Nasello V, Spina E, Sturiale L. Garozzo D, et al. Among authors: sturiale l. Rapid Commun Mass Spectrom. 1997;11(14):1561-6. doi: 10.1002/(SICI)1097-0231(199709)11:14<1561::AID-RCM45>3.0.CO;2-X. Rapid Commun Mass Spectrom. 1997. PMID: 9332021

3

The structure of the exocellular polysaccharide from the cyanobacterium Cyanospira capsulata.

Garozzo D, Impallomeni G, Spina E, Sturiale L. Garozzo D, et al. Among authors: sturiale l. Carbohydr Res. 1998 Feb;307(1-2):113-24. doi: 10.1016/s0008-6215(98)00036-6. Carbohydr Res. 1998. PMID: 9658567

4

Hypoglycosylation with increased fucosylation and branching of serum transferrin N-glycans in untreated galactosemia.

Sturiale L, Barone R, Fiumara A, Perez M, Zaffanello M, Sorge G, Pavone L, Tortorelli S, O'Brien JF, Jaeken J, Garozzo D. Sturiale L, et al. Glycobiology. 2005 Dec;15(12):1268-76. doi: 10.1093/glycob/cwj021. Epub 2005 Jul 21. Glycobiology. 2005. PMID: 16037488

5

Borderline mental development in a congenital disorder of glycosylation (CDG) type Ia patient with multisystemic involvement (intermediate phenotype).

Barone R, Sturiale L, Fiumara A, Uziel G, Garozzo D, Jaeken J. Barone R, et al. Among authors: sturiale l. J Inherit Metab Dis. 2007 Feb;30(1):107. doi: 10.1007/s10545-006-0486-6. Epub 2006 Dec 20. J Inherit Metab Dis. 2007. PMID: 17186415

6

Clinical and biochemical features in a Congolese infant with congenital disorder of glycosylation (CDG)-IIx.

Nsibu NC, Jaeken J, Carchon H, Mampunza M, Sturiale L, Garozzo D, Mashako MN, Tshibassu MP. Nsibu NC, et al. Among authors: sturiale l. Eur J Paediatr Neurol. 2008 May;12(3):257-61. doi: 10.1016/j.ejpn.2007.07.012. Epub 2007 Sep 19. Eur J Paediatr Neurol. 2008. PMID: 17884642

7

Clinical phenotype correlates to glycoprotein phenotype in a sib pair with CDG-Ia.

Barone R, Sturiale L, Sofia V, Ignoto A, Fiumara A, Sorge G, Garozzo D, Zappia M. Barone R, et al. Among authors: sturiale l. Am J Med Genet A. 2008 Aug 15;146A(16):2103-8. doi: 10.1002/ajmg.a.32446. Am J Med Genet A. 2008. PMID: 18629883

8

Multiplexed glycoproteomic analysis of glycosylation disorders by sequential yolk immunoglobulins immunoseparation and MALDI-TOF MS.

Sturiale L, Barone R, Palmigiano A, Ndosimao CN, Briones P, Adamowicz M, Jaeken J, Garozzo D. Sturiale L, et al. Proteomics. 2008 Sep;8(18):3822-32. doi: 10.1002/pmic.200700496. Proteomics. 2008. PMID: 18712764

9

Mass spectrometry in the characterization of human genetic N-glycosylation defects.

Barone R, Sturiale L, Garozzo D. Barone R, et al. Among authors: sturiale l. Mass Spectrom Rev. 2009 May-Jun;28(3):517-42. doi: 10.1002/mas.20201. Mass Spectrom Rev. 2009. PMID: 18844296

10

Long-standing mild hypertransaminasaemia caused by congenital disorder of glycosylation (CDG) type IIx.

Calvo PL, Pagliardini S, Baldi M, Pucci A, Sturiale L, Garozzo D, Vinciguerra T, Barbera C, Jaeken J. Calvo PL, et al. Among authors: sturiale l. J Inherit Metab Dis. 2008 Dec;31 Suppl 2:S437-40. doi: 10.1007/s10545-008-1004-9. Epub 2008 Dec 9. J Inherit Metab Dis. 2008. PMID: 19067230 Review.

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