Sorge G - Search Results

1

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: sorge g. 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

2

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. Among authors: sorge g. Glycobiology. 2005 Dec;15(12):1268-76. doi: 10.1093/glycob/cwj021. Epub 2005 Jul 21. Glycobiology. 2005. PMID: 16037488

3

Perrault syndrome: evidence for progressive nervous system involvement.

Fiumara A, Sorge G, Toscano A, Parano E, Pavone L, Opitz JM. Fiumara A, et al. Among authors: sorge g. Am J Med Genet A. 2004 Jul 30;128A(3):246-9. doi: 10.1002/ajmg.a.20616. Am J Med Genet A. 2004. PMID: 15216544

4

Familial Dandy-Walker variant in CDG syndrome.

Fiumara A, Barone R, Nigro F, Sorge G, Pavone L. Fiumara A, et al. Among authors: sorge g. Am J Med Genet. 1996 May 17;63(2):412-3. doi: 10.1002/ajmg.1320630204. Am J Med Genet. 1996. PMID: 8725797 No abstract available.

5

Krabbe leukodystrophy in a selected population with high rate of late onset forms: longer survival linked to c.121G>A (p.Gly41Ser) mutation.

Fiumara A, Barone R, Arena A, Filocamo M, Lissens W, Pavone L, Sorge G. Fiumara A, et al. Among authors: sorge g. Clin Genet. 2011 Nov;80(5):452-8. doi: 10.1111/j.1399-0004.2010.01572.x. Epub 2010 Nov 11. Clin Genet. 2011. PMID: 21070211

6

Rett syndrome phenotype following infantile acute encephalopathy.

Fiumara A, Polizzi A, Mazzei R, Conforti L, Magariello A, Sorge G, Pavone L. Fiumara A, et al. Among authors: sorge g. J Child Neurol. 2002 Sep;17(9):700-2. doi: 10.1177/088307380201700910. J Child Neurol. 2002. PMID: 12503649

7

Subgaleal hematoma in a child with Sturge-Weber syndrome: to prevent stroke-like episodes, is treatment with aspirin advisable?

Greco F, Fiumara A, Sorge G, Pavone L. Greco F, et al. Among authors: sorge g. Childs Nerv Syst. 2008 Dec;24(12):1479-81. doi: 10.1007/s00381-008-0662-0. Epub 2008 Jun 25. Childs Nerv Syst. 2008. PMID: 18575872

8

Patient with multiple congenital anomalies and decreased production and processing of procollagen in cultured fibroblasts.

Pavone L, Incorpora G, Fiumara A, Sorge G, Ramirez F, McGarry J, Wootten J, Minor R. Pavone L, et al. Among authors: sorge g. Am J Med Genet. 1991 Aug 1;40(2):133-7. doi: 10.1002/ajmg.1320400202. Am J Med Genet. 1991. PMID: 1897564

9

Short stature, brachydactyly, nail dysplasia, and mental retardation: further observation of the Tonoki syndrome.

Sorge G, Baieli S, Mauceri L, Greco F, Fiumara A. Sorge G, et al. Am J Med Genet. 1998 Dec 4;80(4):403-5. Am J Med Genet. 1998. PMID: 9856572

10

Epilepsy in patients with Angelman syndrome.

Fiumara A, Pittalà A, Cocuzza M, Sorge G. Fiumara A, et al. Among authors: sorge g. Ital J Pediatr. 2010 Apr 16;36:31. doi: 10.1186/1824-7288-36-31. Ital J Pediatr. 2010. PMID: 20398390 Free PMC article. Review.

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