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Titolo Data di pubblicazione Autore(i) File
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.
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
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.
Carbohydrate-deficient glycoprotein syndromes become congenital disorders of glycosylation: an updated nomenclature for CDG. First International Workshop on CDGS. 1-gen-1999 Aebi, M; Helenius, A; Schenk, B; Barone, RITA MARIA ELISA; Fiumara, Agata; Berger, Eg; Hennet, T; Imbach, T; Stutz, A; Bjursell, C; Uller, A; Wahlström, Jg; Briones, P; Cardo, E; Clayton, P; Winchester, B; Cormier Dalre, V; de Lonlay, P; Cuer, M; Dupré, T; Seta, N; de Koning, T; Dorland, L; de Loos, F; Kupers, L. file da validare
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
Peripheral lymphocyte subsets and other immune aspects in Rett syndrome. 1-gen-1999 Fiumara, Agata; A., Sciotto; Barone, RITA MARIA ELISA; G., D’Asero; S., Munda; E., Parano; L., Pavone
Developmental patterns and neuropsychological assessment in patients with carbohydrate-deficient glycoconjugate syndrome type IA (phosphomannomutase deficiency) 1-gen-1999 Barone, RITA MARIA ELISA; Pavone, L; Fiumara, Agata; Bianchini, R; Jaeken, J.
Plasma chitotriosidase activity in patients with beta-thalassemia 1-gen-1999 Barone, RITA MARIA ELISA; Di Gregorio, F; Romeo, Ma; Schiliro, G; Pavone, L.
Rett syndrome: Photographic evidence of rapid regression 1-gen-1999 Fiumara, Agata; Barone, RITA MARIA ELISA; D'Asero, G; Marzullo, E; Pavone, L.
Clinical and neuroradiological follow-up in mucopolysaccharidosis type III (Sanfilippo syndrome) 1-gen-1999 Barone, RITA MARIA ELISA; Nigro, F; Triulzi, F; Musumeci, S; Fiumara, Agata; Pavone, L. file da validare
Point mutations throughout the GLI3 gene cause Greig cephalopolysyndactyly syndrome 1-gen-1999 Kalff Suske, M; Wild, A; Topp, J; Wessling, M; Jacobsen, Em; Bornholdt, D; Engel, H; Heuer, H; Aalfs, Cm; Ausems, Mgem; Barone, RITA MARIA ELISA; Herzog, A; Heutink, P; Homfray, T; Gillessen Kaesbach, G; Konig, R; Kunze, J; Meinecke, P; Muller, D; Rizzo, Renata; Strenge, S; Superti Furga, A; Grzeschik, Kh
Congenital disorder of glycosylation due to phosphomannomutase deficiency (CDG-IA) skeletal status assessement by bone densitometry ultrasonography and biochemical markers of bone turnover 1-gen-2000 Barone, RITA MARIA ELISA; Pavone, Vito; Pennisi, P; Fiore, Ce; Fiumara, Agata file da validare
La chitotriosidasi: un marker per la diagnosi ed il follow-up della malattia di Gaucher. 1-gen-2000 Barone, RITA MARIA ELISA; P., Pavone; M., Grosso; E., Marzullo; G., Romeo; Fiumara, Agata file da validare
Carbohydrate-deficient glycoprotein syndromes: the Italian experience 1-gen-2000 DI ROCCO, M; Barone, RITA MARIA ELISA; Adami, A; Burlina, A; Carrozzi, M; DIONISI VICI, C; Gatti, R; Iannetti, P; Parini, R; Raucci, U; Roccella, M; Spada, M; Fiumara, Agata
Tuberous breast syndrome in an adolescent girl with Hurler-Scheie disease (MPS I H/S) 1-gen-2000 Barone, RITA MARIA ELISA; P., Pavone; R., Trifiletti; E., Parano
Haemostatic abnormalities and lupus anticoagulant activity in patients with Gaucher disease type I 1-gen-2000 Barone, RITA MARIA ELISA; Giuffrida, G; Musso, R; Carpinteri, G; Fiumara, Agata
Extraordinary bone involvement in a Gaucher disease type I patient 1-gen-2000 Barone, RITA MARIA ELISA; Pavone, Vito; Nigro, F; Chabas, A; Fiumara, Agata
Arthrogryposis multiplex congenita and pituitary ectopia. A case report 1-gen-2000 Parano, E; Trifiletti, Rr; Barone, RITA MARIA ELISA; Pavone, Vito; Pavone, P.
Mostrati risultati da 21 a 40 di 281
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