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Mostrati risultati da 1 a 20 di 285
Titolo Data di pubblicazione Autore(i) File
Adrenoleukodystrophy. Validity of CT in the diagnosis. 1-gen-1982 Pavone, L; Pero, G; Fiumara, Agata; La Rosa, M; Scialfa, G. file da validare
The effects of 2-(alpha-Tenoyl) thiopropionylglycine (TTPG) on human lung mucus. 1-gen-1983 Morale, Mc; Fiumara, Agata; Bousquet, E; Matera, M; Guarcello, V; Rizza, V. file da validare
Effects of carnitine and acetylcarnitine isomers on mitochondrial respiration. 1-gen-1984 Farinella, Z; Fiumara, Agata; Bianciardi, P; Guarcello, V; Rizza, V. file da validare
Determination of C20-C30 fatty acids by reversed-phase chromatographic techniques: an efficient method to quantitate minor fatty acids in serum of patients with adrenoleukodystrophy. 1-gen-1984 Alberghina, M; Fiumara, Agata; Pavone, L; Giuffrida, A. M. file da validare
Late-onset globoid cell leukodystrophy. Report on seven new patients. 1-gen-1985 Fiumara, Agata; Pavone, L; Siciliano, L; Tinè, A; Parano, E; Innico, G. file da validare
Ittiosi lamellare congenita in 2 sorelle affette da aminoglicinuria, follow-up di 8 anni 1-gen-1985 Fiumara, Agata; S., Garozzo; C., Micale; Micali, Giuseppe; C., Meli file da validare
Niemann-Pick disease type B: clinical signs and follow-up of a new case.Niemann-Pick disease type B: clinical signs and follow-up of a new case. 1-gen-1986 Pavone, L; Fiumara, Agata; Larosa, M. file da validare
Neuronal ceroid lipofuscinosis. Description of a case. Pediatr Med Chir. 1987 Nov-Dec;9(6):757-60. Italian. PMID: 3444750 1-gen-1987 Fiumara, Agata; Nardone, G; Nigro, F; Meli, C; Siciliano, L; Gullotta, F. file da validare
VARIABILITA'CLINICA DELLA SINDROME DI BECKWITH - WIEDEMAN. PRESENTAZIONE DI OTTO PAZIENTI 1-gen-1988 Sorge, G; DI FORTI, F; Fiumara, Agata; Garozzo, R; Rizzo, Renata file da validare
Partial lipodystrophy: immunologic studies in a Sicilian girl. 1-gen-1989 Fiumara, Agata; Mazzarino, Mc; Di Stefano, Va; Micali, G; Mancuso, Gr; PMID: 2919800, La Rosa M. file da validare
On a rare atypical form of metachromatic leukodystrophy (MLD): "neurological non-mld patients with low levels of arylsulphatase A". Description of two cases. 1-gen-1989 Grasso, A; Fiumara, Agata; Biondi, R; Nigro, F; Nardone, G; Bonomo, Mg; Sicurella, L; Scrofani, A. file da validare
PARTIAL LIPODYSTROPHY - IMMUNOLOGICAL STUDIES IN A SICILIAN GIRL 1-gen-1989 Fiumara, Agata; Mazzarino, Maria Clorinda; Distefano, Va; Micali, G; Mancuso, Gr; Larosa, M. file da validare
Late-onset globoid cell leukodystrophy. Report on seven new patients. 1-gen-1990 Fiumara, Agata; Pavone, L; Siciliano, L; Tinè, A; Parano, E; Innico, G. file da validare
GLYCOGENOSIS THE AUTHOR'S EXPERIENCE WITH POMPE DISEASE 1-gen-1991 Fiumara, Agata file da validare
Patient with multiple congenital anomalies and decreased production and processing of procollagen in cultured fibroblasts. 1-gen-1991 Pavone, L; Incorpora, G; Fiumara, Agata; Sorge, G; Ramirez, F; Mcgarry, J; Wootten, J; Minor, R. file da validare
Sanfilippo syndrome type D in two adolescent sisters. 1-gen-1992 Siciliano, L; Fiumara, Agata; Pavone, L; Freeman, C; Robertson, D; Morris, Cp; Hopwood, Jj; Di Natale, P; Musumeci, S; Horwitz, A. L. file da validare
Plasma β-endorphin levels and natural killer cells in two cases of congenital indifference to pain 1-gen-1992 Bernardini, Renato; Tine, A; Mauceri, G; Mazzarino, Mc; Malaponte, G; Nicosia, A; Parano, E; Fiumara, Agata file da validare
First-trimester prenatal diagnosis of Canavan disease. 1-gen-1993 Rolland, Mo; Divry, P; Mandon, G; Thoulon, Jm; Fiumara, Agata; Mathieu, M. 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 1 with cataracts and mental retardation. 1-gen-1993 Pavone, L; Fiumara, Agata; Rizzo, Renata; Parano, E; Incorpora, G. file da validare
Mostrati risultati da 1 a 20 di 285
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