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LA SINDROME VELO-CARDIO-FACIALE:VALUTAZIONE CLINICA IN DUE PAZIENTI E RILEVAZIONE TOMODENSITOMETRICA DELL'ANOMALIA PALATALE IN UNA DI ESSE
file da validare1992-01-01 Rizzo, Renata; Mazzone, D; LA MANTIA, Ignazio; Barone, RITA MARIA ELISA; Colombo, A; Smilari, P; Sorge, G.
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
Carbohydrate deficient Glycoprotein Syndrome: Report on two new cases.
file da validare1993-01-01 L., Pavone; Rizzo, Renata; Barone, RITA MARIA ELISA; Fiumara, Agata; J., Jaeken
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
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
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
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
Ethylmalonic aciduria and SCAD gene polymorphysm
file da validare1996-01-01 Fiumara, Agata; F., Nigro; Barone, RITA MARIA ELISA; M., Finocchiaro; A., Ribes; N., Gregersen
Olivopontocerebellar atrophy leading to recognition of carbohydrate-deficient glycoprotein syndrome type I
file da validare1996-01-01 Pavone, L; Fiumara, Agata; Barone, RITA MARIA ELISA; Rizzo, Renata; Buttitta, P; Dobyns, Wb; Jaeken, J.
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.
Familial Dandy-Walker variant in CDG syndrome
1996-01-01 Fiumara, Agata; Barone, RITA MARIA ELISA; Nigro, F; Sorge, G; Pavone, L.
Clinical and neuroradiological findings in classic infantile and late-onset globoid-cell leukodystrophy (Krabbe disease)
1996-01-01 Barone, RITA MARIA ELISA; Bruhl, K; Stoeter, P; Fiumara, Agata; Pavone, L; Beck, M.
Evidence for genetic heterogeneity in the carbohydrate-deficient glycoprotein syndrome type I (CDG1)
1996-01-01 Matthijs, G; Legius, E; Schollen, E; Vandenberk, P; Jaeken, J; Barone, RITA MARIA ELISA; Fiumara, Agata; Visser, G; Lambert, M; Cassiman, Jj
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.
Lysosomal enzymes activiy in serum and leukocytes of ten patients with carbohydrate-deficient glycoprotein syndrome type IA (phosphomannomutase deficiency)
file da validare1997-01-01 Barone, RITA MARIA ELISA; Fiumara, Agata; L., Pavone; J., Jaeken
Aspetti neurocomportamentali nella malattia di Sanfilippo (Mucopolisaccaridosi III).
file da validare1997-01-01 Barone, RITA MARIA ELISA; M., Finocchiaro; M., Grassi; F., Greco; Fiumara, Agata
Phosphomannomutase deficiency is the main cause of carbohydrate-deficient glycoprotein syndrome with type I isoelectrofocusing pattern of serum sialotransferrins
1997-01-01 Jaeken, J; Artigas, J; Barone, RITA MARIA ELISA; Fiumara, Agata; Dekoning, Tj; Pollthe, Bt; Derijkvanandel, Jf; Hoffmann, Gf; Assmann, B; Mayatepek, E; Pineda, M; Vilaseca, Ma; Saudubray, Jm; Schluter, B; Wevers, R; Vanschaftingen, E.
Two new mild homozygous mutations in Gaucher disease patients: clinical signs and biochemical analyses
1997-01-01 Cormand, B; Grinberg, D; Gort, L; Fiumara, Agata; Barone, RITA MARIA ELISA; Vilageliu, L; Chabas, A.
Rett syndrome: immunological studies.
file da validare1997-01-01 Fiumara, Agata; Barone, RITA MARIA ELISA; A., Sciotto; A., Sciacca; R., Romano; L., Pavone
Titolo | Data di pubblicazione | Autore(i) | File |
---|---|---|---|
LA SINDROME VELO-CARDIO-FACIALE:VALUTAZIONE CLINICA IN DUE PAZIENTI E RILEVAZIONE TOMODENSITOMETRICA DELL'ANOMALIA PALATALE IN UNA DI ESSE | 1-gen-1992 | Rizzo, Renata; Mazzone, D; LA MANTIA, Ignazio; Barone, RITA MARIA ELISA; Colombo, A; Smilari, P; Sorge, G. | 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 |
Carbohydrate deficient Glycoprotein Syndrome: Report on two new cases. | 1-gen-1993 | L., Pavone; Rizzo, Renata; Barone, RITA MARIA ELISA; Fiumara, Agata; J., Jaeken | 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 | |
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 |
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 |
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 |
Ethylmalonic aciduria and SCAD gene polymorphysm | 1-gen-1996 | Fiumara, Agata; F., Nigro; Barone, RITA MARIA ELISA; M., Finocchiaro; A., Ribes; N., Gregersen | file da validare |
Olivopontocerebellar atrophy leading to recognition of carbohydrate-deficient glycoprotein syndrome type I | 1-gen-1996 | Pavone, L; Fiumara, Agata; Barone, RITA MARIA ELISA; Rizzo, Renata; Buttitta, P; Dobyns, Wb; Jaeken, J. | file da validare |
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 |
Familial Dandy-Walker variant in CDG syndrome | 1-gen-1996 | Fiumara, Agata; Barone, RITA MARIA ELISA; Nigro, F; Sorge, G; Pavone, L. | |
Clinical and neuroradiological findings in classic infantile and late-onset globoid-cell leukodystrophy (Krabbe disease) | 1-gen-1996 | Barone, RITA MARIA ELISA; Bruhl, K; Stoeter, P; Fiumara, Agata; Pavone, L; Beck, M. | |
Evidence for genetic heterogeneity in the carbohydrate-deficient glycoprotein syndrome type I (CDG1) | 1-gen-1996 | Matthijs, G; Legius, E; Schollen, E; Vandenberk, P; Jaeken, J; Barone, RITA MARIA ELISA; Fiumara, Agata; Visser, G; Lambert, M; Cassiman, Jj | |
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 |
Lysosomal enzymes activiy in serum and leukocytes of ten patients with carbohydrate-deficient glycoprotein syndrome type IA (phosphomannomutase deficiency) | 1-gen-1997 | Barone, RITA MARIA ELISA; Fiumara, Agata; L., Pavone; J., Jaeken | file da validare |
Aspetti neurocomportamentali nella malattia di Sanfilippo (Mucopolisaccaridosi III). | 1-gen-1997 | Barone, RITA MARIA ELISA; M., Finocchiaro; M., Grassi; F., Greco; Fiumara, Agata | file da validare |
Phosphomannomutase deficiency is the main cause of carbohydrate-deficient glycoprotein syndrome with type I isoelectrofocusing pattern of serum sialotransferrins | 1-gen-1997 | Jaeken, J; Artigas, J; Barone, RITA MARIA ELISA; Fiumara, Agata; Dekoning, Tj; Pollthe, Bt; Derijkvanandel, Jf; Hoffmann, Gf; Assmann, B; Mayatepek, E; Pineda, M; Vilaseca, Ma; Saudubray, Jm; Schluter, B; Wevers, R; Vanschaftingen, E. | |
Two new mild homozygous mutations in Gaucher disease patients: clinical signs and biochemical analyses | 1-gen-1997 | Cormand, B; Grinberg, D; Gort, L; Fiumara, Agata; Barone, RITA MARIA ELISA; Vilageliu, L; Chabas, A. | |
Rett syndrome: immunological studies. | 1-gen-1997 | Fiumara, Agata; Barone, RITA MARIA ELISA; A., Sciotto; A., Sciacca; R., Romano; L., Pavone | file da validare |
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