Barone R - Search Results

1

Cardiac involvement in MPS patients: incidence and response to therapy in an Italian multicentre study.

Sestito S, Rinninella G, Rampazzo A, D'Avanzo F, Zampini L, Santoro L, Gabrielli O, Fiumara A, Barone R, Volpi N, Scarpa M, Tomanin R, Concolino D. Sestito S, et al. Among authors: barone r. Orphanet J Rare Dis. 2022 Jun 29;17(1):251. doi: 10.1186/s13023-022-02396-5. Orphanet J Rare Dis. 2022. PMID: 35768874 Free PMC article.

2

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.

3

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

4

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

5

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

6

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

7

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

8

Rett syndrome: photographic evidence of rapid regression.

Fiumara A, Barone R, D'Asero G, Marzullo E, Pavone L. Fiumara A, et al. Among authors: barone r. J Child Neurol. 1999 Aug;14(8):550-2. doi: 10.1177/088307389901400815. J Child Neurol. 1999. PMID: 10456770

9

Peripheral lymphocyte subsets and other immune aspects in Rett syndrome.

Fiumara A, Sciotto A, Barone R, D'Asero G, Munda S, Parano E, Pavone L. Fiumara A, et al. Among authors: barone r. Pediatr Neurol. 1999 Sep;21(3):619-21. doi: 10.1016/s0887-8994(99)00053-3. Pediatr Neurol. 1999. PMID: 10513687

10

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

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