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Results: 1-14 |
Results: 14
Extraneurologic symptoms as presenting signs of Sanfilippo disease
Authors: Barone, R Fiumara, A Villani, GRD Di Natale, P Pavone, L
Citation: R. Barone et al., Extraneurologic symptoms as presenting signs of Sanfilippo disease, PED NEUROL, 25(3), 2001, pp. 254-257
Carbohydrate-deficient glycoprotein syndromes become congenital disorders of glycosylation: an updated nomenclature for CDG
Authors: Aebi, M Helenius, A Schenk, B Barone, R Fiumara, A Berger, EG Hennet, T Imbach, T Stutz, A Bjursell, C Uller, A Wahlstrom, JG Briones, P Cardo, E Clayton, P Winchester, B Cormier-Daire, V de Lonlay, P Cuer, M Dupre, T Seta, N de Koning, T Dorland, L de Loos, F Kupers, L Fabritz, L Hasilik, M Marquardt, T Niehues, R Freeze, H Grunewald, S Heykants, L Jaeken, J Matthijs, G Schollen, E Keir, G Kjaergaard, S Schwartz, M Skovby, F Klein, A Roussel, P Korner, C Lubke, T Thiel, C von Figura, K Koscielak, J Krasnewich, D Lehle, L Peters, V Raab, M Saether, O Schachter, H Van Schaftingen, E Verbert, A Vilaseca, A Wevers, R Yamashita, K
Citation: M. Aebi et al., Carbohydrate-deficient glycoprotein syndromes become congenital disorders of glycosylation: an updated nomenclature for CDG, GLYCOBIOLOG, 10(6), 2000, pp. III-V
Escobedo's 'Missa Philippus Rex Hispanie': A Spanish descendant of Josquin's 'Hercules' mass
Authors: Fiumara, A
Citation: A. Fiumara, Escobedo's 'Missa Philippus Rex Hispanie': A Spanish descendant of Josquin's 'Hercules' mass, EARLY MUSIC, 28(1), 2000, pp. 50
Pathobiochemical implications of hyperdopaminuria in patients with aromatic L-amino acid decarboxylase deficiency
Authors: Abeling, NGGM Brautigam, C Hoffmann, GF Barth, PG Wevers, RA Jaeken, J Fiumara, A Knust, A van Gennip, AH
Citation: Nggm. Abeling et al., Pathobiochemical implications of hyperdopaminuria in patients with aromatic L-amino acid decarboxylase deficiency, J INH MET D, 23(4), 2000, pp. 325-328
Haemostatic abnormalities and lupus anticoagulant activity in patients with Gaucher disease type I
Authors: Barone, R Giuffrida, G Musso, R Carpinteri, G Fiumara, A
Citation: R. Barone et al., Haemostatic abnormalities and lupus anticoagulant activity in patients with Gaucher disease type I, J INH MET D, 23(4), 2000, pp. 387-390
Carbohydrate-deficient glycoprotein syndromes: The Italian experience
Authors: Di Rocco, M Barone, R Adami, A Burlina, A Carrozzi, M Dionisi-Vici, C Gatti, R Iannetti, P Parini, R Raucci, U Roccella, M Spada, M Fiumara, A
Citation: M. Di Rocco et al., Carbohydrate-deficient glycoprotein syndromes: The Italian experience, J INH MET D, 23(4), 2000, pp. 391-395
Supplemental therapeutic oxygen for prethreshold retinopathy of prematurity (STOP-ROP), a randomized, controlled trial. I: Primary outcomes
Authors: Phelps, DL Lindblad, A Bradford, JD Wood, NE Oden, NL Cole, C MacKinnon, B Yaffe, A Everett, DF Wright, L Krulewitch, C Brozanski, BS Young, T Scott, M Hawkins, BS Begg, CB Bell, EF Buckley, EG Hay, WW Kushner, BJ Snouck-Hurgronje, L Taylor, CR Oden, NL Lindblad, AS Bachy, C Berlin, SH Brandt, D Guzzey, M Henson, L Jolles, B Stine, E Thomas-Sharp, C Van Lare, J Yaffe, A Cole, C Stewart, J MacKinnon, B Alexander, T Anderson, C Ashrafzadeh, M Baumal, C Bhatt, A Blocker, R Brown, E Cordova, M Dacey, MP Duker, J Eagle, J Eichenwald, E Faherty, C Fujii, A Gray, J Hartnett, ME Harvey-Wilkes, K Hetrick, J Hughes, M Ip, M Izatt, S Lacy, R Levy, J Margolis, T McAlmon, KR McCabe, O Moore, M Niffenegger, J Nikou, S Petersen, R Petit, K Pierce, EA Powers, B Pursley, M Reichel, E Remis, L Rivellese, M Shephard, BA Sorkin, J Stark, A Struzik, S Tran, T VanderVeen, DK Vreeland, P Wilker, R Wright, J Kim, V Desai, V Rutledge, B McClead, RE Fellows, R Biel, M Bremer, DL Maddox, R Mann, B McGregor, ML Nye, C Peterman, P Rogers, GL Rosenberg, EM Seguin, J Stephen, S Anderson, CW Cordero, L Spitzer, AR Corcoran, L Cullen, J Fosnot, J Desai, S Fricko, J Giannetta, J Harris, MC Hepps, D Hertle, R Holt, B Leef, K McNamara, JA Miller, D Mooney, K Naidoff, M Pleasure, JR Porat, R Quinn, G Saunders, T Schaffer, D Spear, M Spinner, S Tasman, W Vander, JF Wilson, M Zirin, S Bradford, JD Ables, P Bonner, C Brodsky, M Davis, E Frost, K Hall, RW Harper, R Thomas, BR Barr, CC Adamkin, D Douglas, CH Fishman, PH Hamlyn-Forti, N Hilbert, T Roberts, J Whittington, G Wright, J Oh, W Adams, N Andrews, D Geltzer, AI Hensman, A Philo-Heroux, S Rothstein, RW Snady-McCoy, L Stoll, B Capone, A Critz, AD Drack, AV Goulding, CH Martin, DF Olsen, TW Sternberg, P White, MB Lemons, JA Appel, DD Denne, SC Ellis, F Helveston, E McKee, A Neely, D Plager, D Sprunger, D Wilson, D Wright, LD Stevenson, DK Alcorn, DM Ball, MB Bone, D Fleisher, BE Gaynon, MW Good, WV Inguillo, D Burke, M Carden, S Colegate, S Good, WV Grisby, C Hitchcock, B Hutchins, RK Khan, AO Kotagal, U Mersmann, M Munson, K Sheppard, RW West, C Korones, S Bada, H Borirak, S Brewer, B Camp, G Dempsey, S Devine, C Downie, A Faber, DW Grimes, S Hairston, R Hensley, B Hudson, T Johnson, V Katz, A Manejwala, L Schwartz, J Zocchi, K Landers, M Jewart, B Tyson, JE Kennedy, K Anand, R Hensley, G Metrikin, D Spencer, R Warner, S Weakley, D Wilson, CA Burchfield, J Bedard, M Baker, JD Bara, R Casabar, R Liang, KC Lucas, W Muran, G O'Malley, E Pulkin, JE Roarty, J Shankaran, S Trese, M Ehrenkranz, RA Bartley, C Gettner, PA Juliano, G Konstantino, M Moylan, S Peterec, SM Sears, J Sherwonit, E Stoessel, K Easa, D Drouilhet, JH Ash, K Atebara, N Balaraman, V Debuque, L Douglas, J Fritz, E Hirai, C Iwamoto, L Kau, S Kokame, G Liao, P Loo, S Meister, J Murai, D Nakamura, KT Patrinos, ME Pelke, S Post, G Sood, S Sroat, DA Tinsley, L Wong, B Wong, V Brozanski, BS Cheng, KP Bergren, RL Biglan, AW Davis, JS Doft, B Hoffman, ME Jones, J Laneri, G Lobes, LA Olsen, KR Rinkoff, J Vazquez, RL Phelps, DL Wood, N Brown, K Mansfield, LR Markowitz, GD Guillet, E Morris, J Nicoletta, K Rose, S Sinkin, R Tingley, D Vanderlinde, R Shutts, S Carrion, V Cummings, J Awner, S Marano, D Olitsky, S Reynolds, J Terpin, M Gordon, R Diamond, JG Hasty-Voelkel, B Neff, D Reynolds, J Storch, TG Weber, PA Barondes, MJ Browne, L Combs, A Elbaba, F Gallagher, K Gerontis, CC King, K Kleinman, L Kodsi, S LaGamma, E Lipsitz, P Marmor, M McGovern, RV Wilkens, B Kokomoor, FW Burton, JE Enlow, MK Feick, HJ Jaberg, CE Kelley, A Kisak, MJ Locastro, AJ Peter, CA Tsai, TJ Shapiro, MJ Holmes, JM Abbasi, I Adeni, S Aldana, O Alter, D Annerino, KA Arora, S Becker, H Bhat, R Bigger, HR Bunjapamai, W Cattamanchi, G Cohen, JA Collins, JW Cronin, CM Daily, MJ Davis, CL De Alba, F DeKowski, SA Deddish, RB Dorton, A Dray, PB Duffner, LA Dusek, L Dyer, DS Enger, MC Fisher, JB Fiumara, A Friedlander, S Ghai, V Gieser, JP Gieser, RG Greenwald, MJ Gunawardene, NR Gupta, B Guyer, N Hennessy, AM Hernandez, G Hyde, DC Illian, M Jain, R Jansen, RD Kaufman, LM Kling, P Kurtz, RM Lai, C Leamy, MJ Lukose, A Lyon, AT MacCumber, M McCulloch, KTM McDonnell, JF Menner, C Mets, MB Millard, DD Miller, MT Mockovak, ME Morose, A Naber, M Nitz, P Ogata, ES Palanpurwala, KA Paulin, CA Payton, J Phillpotts, BA Pyati, S Raju, TNK Resnick, KI Rupar, B Sajous, C Santiago, NE Dunseath-Shuman, B Simmons, RA Singh, A Skopec, DL Solomon, MJ Squires, MA Ticho, BH Vasan, U Vidyasagar, D Wall, SN Weinberg, AB Weinberg, DV Wilks, A Zikos, E Banagale, RC Aaby, AA Banta-Wright, SA Baxter, LM Bellant, JK Benda, G Binder, ND Brown, WJ Cheldelin, L Christensen, L DeVito, V Dolphin, NG Dunham, S Edwards, A Gilhooly, JT Goodman, S Huston, R Lewallen, PK McDonald, J Mischel, R Murphy, DL Newman, V Novack, CM Owen, S Palmer, EA Pillers, DM Powers, M Rimmer, S Robertson, J Smith, SA Tongue, AC Wallen, LD Wheeler, DT Stern, ME Auerbach, R Dorfman, M Poliak, JG Weinstein, B Wigton, K Preslan, MW Gewolb, IH Aristimuno, B Birenbaum, HJ Bristol, B Dulkerian, S Gutberlet, RL Hutcheson, K Palmer, TW Repka, MX Schoedel, C Steidl, S Tanbusch, T Waeltermann, J Wong, RV Feman, SS Cotton, RB Donahue, S Johnson, DA Law, AB Sinatra, RB Steele, SD Walsh, WF Kirk, J Stewart, MW Bolling, JP Bryan, JS Chapman-Shaw, VL Garrison, RD Hered, RW Higgison, J Hunter, LR Lambrou, FH Ott, LA Pogrebniak, AE Self, M Vargo, V Vaughn, AJ Young, J Young, TL Angel, CS Bendel, CM Brasel, D Chisholm, K Christiansen, S Cifuentes, RF Cook, SM Egbert, JE Engel, RR Fangman, J Geier, P Holleschau, AM Janda, AM Maxwell, M Miller, C Mills, MM Neely, KA Pier, T Rebertus, KS Rodman, WP Summers, CG Trower, NL McCaffree, MA Scott, M Bradford, RH Brown, RD Butcher, J Co, E Corff, K Grellner, A Henson, L King, L Lopez, S Shofner, JM Tolentino, TA Wlodaver, AG Satish, M Bradley, B Dabbs, CK Gall, VM Gunther, K Rosenthal, JG Troxell, B Droste, PJ Alexander, C Beaumont, E Glazer, L Johnson, L Margherio, AR
Citation: Dl. Phelps et al., Supplemental therapeutic oxygen for prethreshold retinopathy of prematurity (STOP-ROP), a randomized, controlled trial. I: Primary outcomes, PEDIATRICS, 105(2), 2000, pp. 295-310
beta-hexosaminidase, alpha-D-mannosidase, and beta-mannosidase expression in serum from patients with carbohydrate-deficient glycoprotein syndrome type I
Authors: Beccari, T Mancuso, F Costanzi, E Tassi, C Barone, R Fiumara, A Orlacchio, A Aisa, MC Orlacchio, A
Citation: T. Beccari et al., beta-hexosaminidase, alpha-D-mannosidase, and beta-mannosidase expression in serum from patients with carbohydrate-deficient glycoprotein syndrome type I, CLIN CHIM A, 302(1-2), 2000, pp. 125-132
Extraordinary bone involvement in a Gaucher disease type I patient
Authors: Barone, R Pavone, V Nigro, F Chabas, A Fiumara, A
Citation: R. Barone et al., Extraordinary bone involvement in a Gaucher disease type I patient, BR J HAEM, 108(4), 2000, pp. 838-841
Peripheral lymphocyte subsets and other immune aspects in Rett syndrome
Authors: Fiumara, A Sciotto, A Barone, R D'Asero, G Munda, S Parano, E Pavone, L
Citation: A. Fiumara et al., Peripheral lymphocyte subsets and other immune aspects in Rett syndrome, PED NEUROL, 21(3), 1999, pp. 619-621
Rett syndrome: Photographic evidence of rapid regression
Authors: Fiumara, A Barone, R D'Asero, G Marzullo, E Pavone, L
Citation: A. Fiumara et al., Rett syndrome: Photographic evidence of rapid regression, J CHILD NEU, 14(8), 1999, pp. 550-552
Developmental patterns and neuropsychological assessment in patients with carbohydrate-deficient glycoconjugate syndrome type IA (phosphomannomutase deficiency)
Authors: Barone, R Pavone, L Fiumara, A Bianchini, R Jaeken, J
Citation: R. Barone et al., Developmental patterns and neuropsychological assessment in patients with carbohydrate-deficient glycoconjugate syndrome type IA (phosphomannomutase deficiency), BRAIN DEVEL, 21(4), 1999, pp. 260-263
Clinical and neuroradiological follow-up in mucopolysaccharidosis type III(Sanfilippo syndrome)
Authors: Barone, R Nigro, F Triulzi, F Musumeci, S Fiumara, A Pavone, L
Citation: R. Barone et al., Clinical and neuroradiological follow-up in mucopolysaccharidosis type III(Sanfilippo syndrome), NEUROPEDIAT, 30(5), 1999, pp. 270-274
Short stature, brachydactyly, nail dysplasia, and mental retardation: Further observation of the Tonoki syndrome
Authors: Sorge, G Baieli, S Mauceri, L Greco, F Fiumara, A
Citation: G. Sorge et al., Short stature, brachydactyly, nail dysplasia, and mental retardation: Further observation of the Tonoki syndrome, AM J MED G, 80(4), 1998, pp. 403-405
Risultati: 1-14 |