Barone R - Search Results

1

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

2

Pancreatitis and organic acidemias.

Fiumara A, Barone R, Nigro F, Ribes A, Pavone L. Fiumara A, et al. Among authors: barone r. J Pediatr. 1995 May;126(5 Pt 1):852. doi: 10.1016/s0022-3476(95)70444-2. J Pediatr. 1995. PMID: 7538575 No abstract available.

3

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

4

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.

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

[Enzyme replacement therapy: a new treatment concept in Gaucher disease].

Beck M, Mengel E, Barone R. Beck M, et al. Among authors: barone r. Wien Klin Wochenschr. 1997 Feb 14;109(3):81-5. Wien Klin Wochenschr. 1997. PMID: 9139464 German.

9

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

10

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

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