Fiumara A - Search Results

1

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. 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.

2

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. Thromb Haemost. 1996 Oct;76(4):502-4. Thromb Haemost. 1996. PMID: 8902985

3

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: fiumara a. J Neurol. 1996 Oct;243(10):700-5. doi: 10.1007/BF00873975. J Neurol. 1996. PMID: 8923302

4

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. Among authors: fiumara a. J Inherit Metab Dis. 1998 Apr;21(2):167-72. doi: 10.1023/a:1005351927573. J Inherit Metab Dis. 1998. PMID: 9584269

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. Among authors: fiumara a. Brain Dev. 1999 Jun;21(4):260-3. doi: 10.1016/s0387-7604(99)00020-0. Brain Dev. 1999. PMID: 10392749

6

Extraordinary bone involvement in a gaucher disease type I patient.

Barone R, Pavone V, Nigro F, Chabàs A, Fiumara A. Barone R, et al. Among authors: fiumara a. Br J Haematol. 2000 Mar;108(4):838-41. doi: 10.1046/j.1365-2141.2000.01911.x. Br J Haematol. 2000. PMID: 10792292 Free article.

7

Congenital disorders of glycosylation with emphasis on cerebellar involvement.

Barone R, Fiumara A, Jaeken J. Barone R, et al. Among authors: fiumara a. Semin Neurol. 2014 Jul;34(3):357-66. doi: 10.1055/s-0034-1387197. Epub 2014 Sep 5. Semin Neurol. 2014. PMID: 25192513 Review.

8

Farber disease with prolonged survival.

Fiumara A, Nigro F, Pavone L, Moser HW. Fiumara A, et al. J Inherit Metab Dis. 1993;16(5):915-6. doi: 10.1007/BF00714300. J Inherit Metab Dis. 1993. PMID: 8295420 No abstract available.

9

Phosphomannomutase deficiency is the main cause of carbohydrate-deficient glycoprotein syndrome with type I isoelectrofocusing pattern of serum sialotransferrins.

Jaeken J, Artigas J, Barone R, Fiumara A, de Koning TJ, Poll-The BT, de Rijk-van Andel JF, Hoffmann GF, Assmann B, Mayatepek E, Pineda M, Vilaseca MA, Saudubray JM, Schlüter B, Wevers R, Van Schaftingen E. Jaeken J, et al. Among authors: fiumara a. J Inherit Metab Dis. 1997 Jul;20(3):447-9. doi: 10.1023/a:1005331523477. J Inherit Metab Dis. 1997. PMID: 9266378 Clinical Trial. No abstract available.

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. Among authors: fiumara a. Neuropediatrics. 1999 Oct;30(5):270-4. doi: 10.1055/s-2007-973503. Neuropediatrics. 1999. PMID: 10598840

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