Sfoglia per Autore
Farber disease with prolonged survival.
file da validare1993-01-01 Fiumara, Agata; Nigro, F; Pavone, L; Moser, H. W.
Carbohydrate Deficiency Glycoprotein syndrome Report of two new cases
file da validare1993-01-01 L., Pavone; Rizzo, Renata; Barone, RITA MARIA ELISA; Fiumara, Agata; J., Jaeken
Syndactyly type II with cataract and mental retardation
file da validare1993-01-01 L., Pavone; Fiumara, Agata; Rizzo, Renata; E., Parano; G., Incorpora
Immunocytochemistry of muscle cytoskeletal proteins in acid maltase deficiency.
file da validare1994-01-01 Vita, G; Migliorato, A; Toscano, A; Bordoni, A; Bresolin, N; Fiumara, Agata; Messina, C.
Heart involvement in progressive spinal muscular atrophy. A review of the literature and case histories in childhood Pediatr Med Chir. 1994 Mar-Apr;16(2):125-8. Review.
file da validare1994-01-01 Distefano, G; Sciacca, P; Parisi, Mg; Parano, E; Smilari, P; Marletta, M; Fiumara, Agata
Lateral dermoid cyst of the tongue: case report
1994-01-01 Ruggieri, Martino; Tinè, A; Rizzo, Renata; Micali, Giuseppe; Fiumara, Agata
A clinical study of childhood spinal muscular atrophy in Sicily: a review of 75 cases.
file da validare1994-01-01 Parano, E; Fiumara, Agata; Falsaperla, R; Pavone, L.
Congenital muscular dystrophy: correlation of muscle biopsy and clinical features. Pediatr Neurol. 1994 May;10(3):233-6.
file da validare1994-01-01 Parano, E; Fiumara, Agata; Falsperla, R; Vita, G; Trifiletti, R. R.
Carbohydrate deficient glycoprotein syndrome type I: ophthalmic aspects in four Sicilian patients.
1994-01-01 Fiumara, Agata; Barone, RITA MARIA ELISA; P., Buttitta; M., Di Pietro; A., Scuderi; F., Nigro; J., Jaeken
Duplication of dystrophin gene and dissimilar clinical phenotype in the same family.
file da validare1995-01-01 Toscano, A; Vitiello, L; Comi, Gp; Galvagni, F; Miorin, M; Prelle, A; Fortunato, F; Bardoni, A; Mora, M; Fiumara, Agata
Pancreatitis and organic acidemias.
file da validare1995-01-01 Fiumara, Agata; Barone, RITA MARIA ELISA; Nigro, F; Ribes, A; Pavone, L.
INTERFAMILIAL AND INTRAFAMILIAL VARIABILITY IN MUCOLIPIDOSIS-II (I-CELL DISEASE)
file da validare1995-01-01 Beck, M; Barone, RITA MARIA ELISA; Hoffmann, R; Kratzer, W; Rakowsky, T; Nigro, F; Fiumara, Agata
Congenital muscular dystrophies: clinical review and proposed classification. Review.
file da validare1995-01-01 Parano, E; Pavone, L; Fiumara, Agata; Falsaperla, R; Trifiletti, Rr; Dobyns, W. B.
Sindrome CDG tipo I. Aspetti neuroradiologici.
file da validare1996-01-01 Fiumara, Agata; Barone, RITA MARIA ELISA; F., Nigro; G., D'Asero; P., Smilari; L., Pavone
[Early-onset hyperthyroidism with muscle involvement: a report on a patient].
file da validare1996-01-01 Greco, F; Caruso, M; Falsaperla, R; Fiumara, Agata; Parano, E.
Early-onset hyperthyroidism with muscle involvement: a report on a patient.Review.
file da validare1996-01-01 Greco, F; Caruso, M; Falsaperla, R; Fiumara, Agata; 1996 Nov Dec, Parano E. Pediatr Med C. h. i. r.; PMID: 9173411, 18:611 3. R. e. v. i. e. w. I. t. a. l. i. a. n.
Diagnosi clinica e biochimica della leucodistrofia di Krabbe.
file da validare1996-01-01 Barone, RITA MARIA ELISA; Fiumara, Agata; F., Nigro; M., Finocchiaro; M., Grassi; L., Pavone
Multiple sclerosis with onset at 35 months of age
1996-01-01 Ruggieri, Martino; Fiumara, Agata; Grimaldi, Lm; Polizzi, A; Pavone, L.
Haemostatic studies in carbohydrate-deficient glycoprotein syndrome type I
file da validare1996-01-01 Fiumara, Agata; Barone, RITA MARIA ELISA; Buttitta, P; Musso, R; Pavone, L; Nigro, F; Jaeken, J.
Sanfilippo Disease type III B (MPS IIIB) with unusual phenotype
file da validare1996-01-01 Fiumara, Agata; Barone, RITA MARIA ELISA; Nigro, F; Pavone, Vito; Grassi, M; Beck, M.
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| Farber disease with prolonged survival. | 1-gen-1993 | Fiumara, Agata; Nigro, F; Pavone, L; Moser, H. W. | file da validare |
| Carbohydrate Deficiency Glycoprotein syndrome Report of two new cases | 1-gen-1993 | L., Pavone; Rizzo, Renata; Barone, RITA MARIA ELISA; Fiumara, Agata; J., Jaeken | file da validare |
| Syndactyly type II with cataract and mental retardation | 1-gen-1993 | L., Pavone; Fiumara, Agata; Rizzo, Renata; E., Parano; G., Incorpora | file da validare |
| Immunocytochemistry of muscle cytoskeletal proteins in acid maltase deficiency. | 1-gen-1994 | Vita, G; Migliorato, A; Toscano, A; Bordoni, A; Bresolin, N; Fiumara, Agata; Messina, C. | file da validare |
| Heart involvement in progressive spinal muscular atrophy. A review of the literature and case histories in childhood Pediatr Med Chir. 1994 Mar-Apr;16(2):125-8. Review. | 1-gen-1994 | Distefano, G; Sciacca, P; Parisi, Mg; Parano, E; Smilari, P; Marletta, M; Fiumara, Agata | file da validare |
| Lateral dermoid cyst of the tongue: case report | 1-gen-1994 | Ruggieri, Martino; Tinè, A; Rizzo, Renata; Micali, Giuseppe; Fiumara, Agata | |
| A clinical study of childhood spinal muscular atrophy in Sicily: a review of 75 cases. | 1-gen-1994 | Parano, E; Fiumara, Agata; Falsaperla, R; Pavone, L. | file da validare |
| Congenital muscular dystrophy: correlation of muscle biopsy and clinical features. Pediatr Neurol. 1994 May;10(3):233-6. | 1-gen-1994 | Parano, E; Fiumara, Agata; Falsperla, R; Vita, G; Trifiletti, R. R. | file da validare |
| Carbohydrate deficient glycoprotein syndrome type I: ophthalmic aspects in four Sicilian patients. | 1-gen-1994 | Fiumara, Agata; Barone, RITA MARIA ELISA; P., Buttitta; M., Di Pietro; A., Scuderi; F., Nigro; J., Jaeken | |
| Duplication of dystrophin gene and dissimilar clinical phenotype in the same family. | 1-gen-1995 | Toscano, A; Vitiello, L; Comi, Gp; Galvagni, F; Miorin, M; Prelle, A; Fortunato, F; Bardoni, A; Mora, M; Fiumara, Agata | file da validare |
| Pancreatitis and organic acidemias. | 1-gen-1995 | Fiumara, Agata; Barone, RITA MARIA ELISA; Nigro, F; Ribes, A; Pavone, L. | file da validare |
| INTERFAMILIAL AND INTRAFAMILIAL VARIABILITY IN MUCOLIPIDOSIS-II (I-CELL DISEASE) | 1-gen-1995 | Beck, M; Barone, RITA MARIA ELISA; Hoffmann, R; Kratzer, W; Rakowsky, T; Nigro, F; Fiumara, Agata | file da validare |
| Congenital muscular dystrophies: clinical review and proposed classification. Review. | 1-gen-1995 | Parano, E; Pavone, L; Fiumara, Agata; Falsaperla, R; Trifiletti, Rr; Dobyns, W. B. | file da validare |
| Sindrome CDG tipo I. Aspetti neuroradiologici. | 1-gen-1996 | Fiumara, Agata; Barone, RITA MARIA ELISA; F., Nigro; G., D'Asero; P., Smilari; L., Pavone | file da validare |
| [Early-onset hyperthyroidism with muscle involvement: a report on a patient]. | 1-gen-1996 | Greco, F; Caruso, M; Falsaperla, R; Fiumara, Agata; Parano, E. | file da validare |
| Early-onset hyperthyroidism with muscle involvement: a report on a patient.Review. | 1-gen-1996 | Greco, F; Caruso, M; Falsaperla, R; Fiumara, Agata; 1996 Nov Dec, Parano E. Pediatr Med C. h. i. r.; PMID: 9173411, 18:611 3. R. e. v. i. e. w. I. t. a. l. i. a. n. | file da validare |
| Diagnosi clinica e biochimica della leucodistrofia di Krabbe. | 1-gen-1996 | Barone, RITA MARIA ELISA; Fiumara, Agata; F., Nigro; M., Finocchiaro; M., Grassi; L., Pavone | file da validare |
| Multiple sclerosis with onset at 35 months of age | 1-gen-1996 | Ruggieri, Martino; Fiumara, Agata; Grimaldi, Lm; Polizzi, A; Pavone, L. | |
| Haemostatic studies in carbohydrate-deficient glycoprotein syndrome type I | 1-gen-1996 | Fiumara, Agata; Barone, RITA MARIA ELISA; Buttitta, P; Musso, R; Pavone, L; Nigro, F; Jaeken, J. | file da validare |
| Sanfilippo Disease type III B (MPS IIIB) with unusual phenotype | 1-gen-1996 | Fiumara, Agata; Barone, RITA MARIA ELISA; Nigro, F; Pavone, Vito; Grassi, M; Beck, M. | file da validare |
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