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Titolo Data di pubblicazione Autore(i) File
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.
Familial Dandy-Walker variant in CDG syndrome 1-gen-1996 Fiumara, Agata; Barone, RITA MARIA ELISA; Nigro, F; Sorge, G; Pavone, L.
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
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
Unusual skeletal involvment in a splenectomized Gaucher type I patient 1-gen-1997 Fiumara, Agata; Barone, R; Finocchiaro, M; Grassi, M; Nigro, F; Pavone, Vito 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
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
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.
Rett syndrome: immunological studies. 1-gen-1997 Fiumara, Agata; Barone, RITA MARIA ELISA; A., Sciotto; A., Sciacca; R., Romano; L., Pavone file da validare
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.
Autism and celiac disease: failure to validate the hypothesis that a link might exist. 1-gen-1997 Pavone, L; Fiumara, Agata; Bottaro, G; Mazzone, D; Coleman, M. file da validare
Nutritional and auxologic patterns in Italian patients with Rett syndrome. 1-gen-1998 Fiumara, Agata; P., Orsi; G., D’Asero; Barone, RITA MARIA ELISA; L., Pavone; M., Zappella file da validare
Aromatic L-Aminoacid Decarboxilase deficiency: the first Italian case. 1-gen-1998 Fiumara, Agata; R. A., Wevers; Barone, RITA MARIA ELISA; L., Lagae; B., Stoltenborg; J., Jaeken file da validare
Brief report: autistic behaviors among children with fragile X or Rett syndrome: implications for the classification of pervasive developmental disorder 1-gen-1998 Mazzocco, Mm; Pulsifer, M; Fiumara, Agata; Cocuzza, M; Nigro, F; Incorpora, G; Barone, RITA MARIA ELISA
[Melnick-Needles syndrome. Report of a case]. Pediatr Med Chir. 1998 Mar-Apr;20(2):149-52. Italian. PMID: 9706640 1-gen-1998 Greco, F; Mauceri, L; Finocchiaro, M; Fiumara, Agata; Sorge, G. file da validare
Short stature, brachydactyly, nail dysplasia, and mental retardation: further observation of the Tonoki syndrome. Sorge G, Baieli S, Mauceri L, Greco F, Fiumara A. 1-gen-1998 Sorge, G; Baieli, S; Mauceri, L; Greco, F; Fiumara, Agata file da validare
Lysosomal enzyme activities in serum and leukocytes from patients with carbohydrate-deficient glycoprotein syndrome type IA (phosphomannomutase deficiency) 1-gen-1998 Barone, RITA MARIA ELISA; Carchon, H; Jansen, E; Pavone, L; Fiumara, Agata; Bosshard, Nu; Gitzelmann, R; Jaeken, J.
Rett syndrome: expression of nerve growth factor and its receptors in peripheral blood lymphocytes 1-gen-1999 Fiumara, Agata; L., Pavone; A., Chiarenza; Barone, RITA MARIA ELISA; G., D’Asero; L., Lempereur; Bernardini, Renato file da validare
Rett syndrome: Photographic evidence of rapid regression 1-gen-1999 Fiumara, Agata; Barone, RITA MARIA ELISA; D'Asero, G; Marzullo, E; Pavone, L.
Mostrati risultati da 41 a 60 di 285
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