Barone R - Search Results

1

Fabry disease: polymorphic haplotypes and a novel missense mutation in the GLA gene.

Ferri L, Guido C, la Marca G, Malvagia S, Cavicchi C, Fiumara A, Barone R, Parini R, Antuzzi D, Feliciani C, Zampetti A, Manna R, Giglio S, Della Valle CM, Wu X, Valenzano KJ, Benjamin R, Donati MA, Guerrini R, Genuardi M, Morrone A. Ferri L, et al. Among authors: barone r. Clin Genet. 2012 Mar;81(3):224-33. doi: 10.1111/j.1399-0004.2011.01689.x. Epub 2011 May 25. Clin Genet. 2012. PMID: 21517827

2

Inter- and intrafamilial variability in mucolipidosis II (I-cell disease).

Beck M, Barone R, Hoffmann R, Kratzer W, Rakowsky T, Nigro F, Fiumara A. Beck M, et al. Among authors: barone r. Clin Genet. 1995 Apr;47(4):191-9. doi: 10.1111/j.1399-0004.1995.tb03958.x. Clin Genet. 1995. PMID: 7628121

3

Carbohydrate deficient glycoprotein syndrome type I: ophthalmic aspects in four Sicilian patients.

Fiumara A, Barone R, Buttitta P, Di Pietro M, Scuderi A, Nigro F, Jaeken J. Fiumara A, et al. Among authors: barone r. Br J Ophthalmol. 1994 Nov;78(11):845-6. doi: 10.1136/bjo.78.11.845. Br J Ophthalmol. 1994. PMID: 7848982 Free PMC article.

4

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

5

Familial Dandy-Walker variant in CDG syndrome.

Fiumara A, Barone R, Nigro F, Sorge G, Pavone L. Fiumara A, et al. Among authors: barone r. 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.

6

Haemostatic studies in carbohydrate-deficient glycoprotein syndrome type I.

Fiumara A, Barone R, Buttitta P, Musso R, Pavone L, Nigro F, Jaeken J. Fiumara A, et al. Among authors: barone r. Thromb Haemost. 1996 Oct;76(4):502-4. Thromb Haemost. 1996. PMID: 8902985

7

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

8

Two new mild homozygous mutations in Gaucher disease patients: clinical signs and biochemical analyses.

Cormand B, Grinberg D, Gort L, Fiumara A, Barone R, Vilageliu L, Chabás A. Cormand B, et al. Among authors: barone r. Am J Med Genet. 1997 Jun 27;70(4):437-43. doi: 10.1002/(sici)1096-8628(19970627)70:4<437::aid-ajmg19>3.0.co;2-i. Am J Med Genet. 1997. PMID: 9182788

9

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

10

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

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