Barone R - Search Results

1

Human aldolase A natural mutants: relationship between flexibility of the C-terminal region and enzyme function.

Esposito G, Vitagliano L, Costanzo P, Borrelli L, Barone R, Pavone L, Izzo P, Zagari A, Salvatore F. Esposito G, et al. Among authors: barone r. Biochem J. 2004 May 15;380(Pt 1):51-6. doi: 10.1042/BJ20031941. Biochem J. 2004. PMID: 14766013 Free PMC article.

2

Extraneurologic symptoms as presenting signs of Sanfilippo disease.

Barone R, Fiumara A, Villani GR, Di Natale P, Pavone L. Barone R, et al. Pediatr Neurol. 2001 Sep;25(3):254-7. doi: 10.1016/s0887-8994(01)00305-8. Pediatr Neurol. 2001. PMID: 11587884

3

Lysosomal enzyme activities in serum and leukocytes from patients with carbohydrate-deficient glycoprotein syndrome type IA (phosphomannomutase deficiency).

Barone R, Carchon H, Jansen E, Pavone L, Fiumara A, Bosshard NU, Gitzelmann R, Jaeken J. Barone R, et al. J Inherit Metab Dis. 1998 Apr;21(2):167-72. doi: 10.1023/a:1005351927573. J Inherit Metab Dis. 1998. PMID: 9584269

4

Plasma chitotriosidase activity in patients with beta-thalassemia.

Barone R, Di Gregorio F, Romeo MA, Schilirò G, Pavone L. Barone R, et al. Blood Cells Mol Dis. 1999 Feb;25(1):1-8. doi: 10.1006/bcmd.1999.0221. Blood Cells Mol Dis. 1999. PMID: 10349508

5

Developmental patterns and neuropsychological assessment in patients with carbohydrate-deficient glycoconjugate syndrome type IA (phosphomannomutase deficiency).

Barone R, Pavone L, Fiumara A, Bianchini R, Jaeken J. Barone R, et al. Brain Dev. 1999 Jun;21(4):260-3. doi: 10.1016/s0387-7604(99)00020-0. Brain Dev. 1999. PMID: 10392749

6

Startle epilepsy complicating aspartylglucosaminuria.

Labate A, Barone R, Gambardella A, Civitelli D, Fiumara A, Annesi G, Zappia M, Pavone L, Quattrone A. Labate A, et al. Among authors: barone r. Brain Dev. 2004 Mar;26(2):130-3. doi: 10.1016/S0387-7604(03)00069-X. Brain Dev. 2004. PMID: 15036433

7

Clinical and neuroradiological findings in classic infantile and late-onset globoid-cell leukodystrophy (Krabbe disease).

Barone R, Brühl K, Stoeter P, Fiumara A, Pavone L, Beck M. Barone R, et al. Am J Med Genet. 1996 May 3;63(1):209-17. doi: 10.1002/(SICI)1096-8628(19960503)63:1<209::AID-AJMG37>3.0.CO;2-Q. Am J Med Genet. 1996. PMID: 8723112

8

Clinical and neuroradiological follow-up in mucopolysaccharidosis type III (Sanfilippo syndrome).

Barone R, Nigro F, Triulzi F, Musumeci S, Fiumara A, Pavone L. Barone R, et al. Neuropediatrics. 1999 Oct;30(5):270-4. doi: 10.1055/s-2007-973503. Neuropediatrics. 1999. PMID: 10598840

9

Olivopontocerebellar atrophy leading to recognition of carbohydrate-deficient glycoprotein syndrome type I.

Pavone L, Fiumara A, Barone R, Rizzo R, Buttitta P, Dobyns WB, Jaeken J. Pavone L, et al. Among authors: barone r. J Neurol. 1996 Oct;243(10):700-5. doi: 10.1007/BF00873975. J Neurol. 1996. PMID: 8923302

10

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: barone r. Glycobiology. 2005 Dec;15(12):1268-76. doi: 10.1093/glycob/cwj021. Epub 2005 Jul 21. Glycobiology. 2005. PMID: 16037488

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