المؤلفون: Jones, SA, Almassy, Z, Beck, M, Burt, K, Clarke, JT, Giugliani, R, Hendriksz, C, Kroepfl, T, Lavery, L, Lin, SP, Malm, G, Ramaswami, U, Tincheva, R, Wraith, JE

المصدر: Journal of inherited metabolic disease. 32(4):534-543

مصطلحات موضوعية: Medicin och hälsovetenskap

الوصول الحر: http://kipublications.ki.se/Default.aspx?queryparsed=id:119197899Test

المؤلفون: Wraith, J E, Giugliani, R, Burton, B K, Muenzer, J, Clarke, J T, De Meirleir, L, Kroepfl, T, Malm, G, Beck, M

مصطلحات موضوعية: Metabolic diseases

وصف الملف: text/html

العلاقة: http://adc.bmj.com/cgi/content/short/93/2_MeetingAbstracts/espr30Test

الإتاحة: http://adc.bmj.com/cgi/content/short/93/2_MeetingAbstracts/espr30Test

المؤلفون: JONES SA, ALMÃSSY Z, BECK M, BURT K, CLARKE JT, GIUGLIANI R, HENDRIKSZ C, KROEPFL T, LAVERY L, LIN SP, MALM G, RAMASWAMI U, TINCHEVA R, WRAITH JE, SCARPA, MAURIZIO

المساهمون: Jones, Sa, Almã ssy, Z, Beck, M, Burt, K, Clarke, Jt, Giugliani, R, Hendriksz, C, Kroepfl, T, Lavery, L, Lin, Sp, Malm, G, Ramaswami, U, Tincheva, R, Wraith, Je, Scarpa, Maurizio

العلاقة: volume:32(4); firstpage:534; lastpage:543; journal:JOURNAL OF INHERITED METABOLIC DISEASE; http://hdl.handle.net/11577/2380842Test

الإتاحة: http://hdl.handle.net/11577/2380842Test

المؤلفون: Cybulla M, Walter KN, Schwarting A, Divito R, Feriozzi S, Sunder Plassmann G, Binder C, Kotanko P, Kroepfl T, Plecko B, Bodamer O, Hauser AC, Kleinert J, Kristoferitsch W, Schreiber W, Georges B, Nassogne MC, Pirson Y, Dehout F, Henry F, Roland D, Vauthier L, Goyens P, Mazoin N, Van Maldergem L, Eyskens F, Bultas J, Karetová D, Linhart A, Dostalova G, Choukroun G, Berthelot J, Hardy P, Carey Reomonnay S, Lacombe D, Bataille P, Benziane S, Mittelberger JM, Thevenot C, Dobbelaere D, Hachulla E, Dussol B, Reade R, Khau van Kien A, Kaminsky P, Guyot C, Lino M, Ghafari T, Germain DP, Knebelmann B, Lidove O, Ouali N, Touati G, Monlun E, Jaussaud R, Richalet B, Klotz V, Andres E, Caraman D, Bazex J, Perrichot R, Hennermann J, von Arnim Baas A, Stolz S, Hoffmann B, Chrobot E, Grabbe S, Jansen T, Neumann HP, Schluh G, Gal A, Muschol N, Shäfer E, Ullrich K, Das A, Illsinger S, Lücke T, Bähner F, Baron K, Beck M, Bruns K, Delgado Sanchez S, Hartung R, Kalkum G, Kampmann C, Keilmann A, Lackner K, Pitz S, Whybra C, Wiethoff C, Koletzko B, Pontz B, Böttcher T, Miethe S, Rolfs A, Davydenko I, Wanner C, Maródi L, Gabrielli O, Gobbi S, Concolino D, Zampetti A, Borsini W, Buchner S, Menni F, Parini R, Ravaglia R, Santus F, Di Vito R, Burlina A, Burlina AP, Manara R, Antuzzi D, Castorina M, Ricci R, Kaarbøe Ø, Skarbøvik A, Houge G, Svarstad E, Tøndel C, Barba MA, Botella R, Franco A, Torras J, Gómez Huertas E, Torregrosa V, Fernández V, Paniagua J, Rodriguez F, Herrera J, Febrer I, Perez Garcia A, Martin I, Barbado FJ, Garcia de Lorenzo A, López M, González J, Ballarin J, Torra R, Hernández S, Ara J, Bonal J, Pintos G, Andreu J, Rivera A, Oqvist B, Huyen Do U, Barbey F, Hayoz D, Theytaz J, Schärer M, Schulthess G, Steinmann B, Walter K, Widmer U, Hollak C, Ormel E, van Duinen A, Vetter A, Corcoran M, Cox TM, Deegan P, Ramaswami U, Wright N, Baker R, Blincoe M, Bruce R, Burns A, Close L, Davey C, Elliott J, Elliott P, Evans S, Ginsberg L, Hajioff D, Hughes D, Ioannidis A, Keshav S, Mehta A, Milligan A, Orteu C, Richfield L., STRISCIUGLIO, PIETRO

المساهمون: Cybulla, M, Walter, Kn, Schwarting, A, Divito, R, Feriozzi, S, Sunder Plassmann, G, Binder, C, Kotanko, P, Kroepfl, T, Plecko, B, Bodamer, O, Hauser, Ac, Kleinert, J, Kristoferitsch, W, Schreiber, W, Georges, B, Nassogne, Mc, Pirson, Y, Dehout, F, Henry, F, Roland, D, Vauthier, L, Goyens, P, Mazoin, N, Van Maldergem, L, Eyskens, F, Bultas, J, Karetová, D, Linhart, A, Dostalova, G, Choukroun, G, Berthelot, J, Hardy, P, Carey Reomonnay, S, Lacombe, D, Bataille, P, Benziane, S, Mittelberger, Jm, Thevenot, C, Dobbelaere, D, Hachulla, E, Dussol, B, Reade, R, Khau van Kien, A, Kaminsky, P, Guyot, C, Lino, M, Ghafari, T, Germain, Dp, Knebelmann, B, Lidove, O, Ouali, N, Touati, G, Monlun, E, Jaussaud, R, Richalet, B, Klotz, V, Andres, E, Caraman, D, Bazex, J, Perrichot, R, Hennermann, J, von Arnim Baas, A, Stolz, S, Hoffmann, B, Chrobot, E, Grabbe, S, Jansen, T, Neumann, Hp, Schluh, G, Gal, A, Muschol, N, Shäfer, E, Ullrich, K, Das, A, Illsinger, S, Lücke, T, Bähner, F, Baron, K, Beck, M, Bruns, K, Delgado Sanchez, S, Hartung, R, Kalkum, G, Kampmann, C, Keilmann, A, Lackner, K, Pitz, S, Whybra, C, Wiethoff, C, Koletzko, B, Pontz, B, Böttcher, T, Miethe, S, Rolfs, A, Davydenko, I, Wanner, C

وصف الملف: ELETTRONICO

العلاقة: info:eu-repo/semantics/altIdentifier/wos/WOS:000263911400015; volume:22; firstpage:475; lastpage:481; numberofpages:7; journal:TRANSPLANT INTERNATIONAL; http://hdl.handle.net/11588/490290Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-61849104776

الإتاحة: http://hdl.handle.net/11588/490290Test

المؤلفون: WRAITH JE, BECK M, GIUGLIANI R, CLARKE J, MARTIN R, MUENZER J, KROEPFL T, PLECKO B, BRUNNER KRAINZ M, BODAMER O, RATSCHMANN R, MORITZ T, HUNG C, DE MEIRLEIR L, MELGAR D, HOROVITZ D, ZEMAN J, LUND AM, GUFFON N, FRENKING GS, MUSCHOL N, ULLRICH K, BERKAU I, ZAFEIRIOU D, ALMÃSSY Z, GABRIELLI O, CICOGNANI A, RICCI R, BONILLA C, NOVIKOV P, PINTOS G, GALÃN E, DEL TORO M, PINEDA M, HERRERO MM, MUNGUIRA P, GUTIÉRREZ SOLANA LG, DOMINGO R, DE AZUA B, DALMAU J, MURO JM, BALDELLOU A, CALVO JP, NILSSON N, PAPADOPOULOU D, MALM G, DESVEAUX P, RAMASWAMI U, JONES S, WRAITH E, FERNHOFF P, BURTON B, THOMAS J, GREENSTEIN R, JAYAKAR P, WHITLEY C, HARMATZ P, ALECK K., SCARPA, MAURIZIO

المساهمون: Wraith, Je, Beck, M, Giugliani, R, Clarke, J, Martin, R, Muenzer, J, Kroepfl, T, Plecko, B, BRUNNER KRAINZ, M, Bodamer, O, Ratschmann, R, Moritz, T, Hung, C, DE MEIRLEIR, L, Melgar, D, Horovitz, D, Zeman, J, Lund, Am, Guffon, N, Frenking, G, Muschol, N, Ullrich, K, Berkau, I, Zafeiriou, D, Almã ssy, Z, Gabrielli, O, Cicognani, A, Scarpa, Maurizio, Ricci, R, Bonilla, C, Novikov, P, Pintos, G, Galã n, E, DEL TORO, M, Pineda, M, Herrero, Mm, Munguira, P, GUTIÉRREZ SOLANA, Lg, Domingo, R, DE AZUA, B, Dalmau, J, Muro, Jm, Baldellou, A, Calvo, Jp, Nilsson, N, Papadopoulou, D, Malm, G, Desveaux, P, Ramaswami, U, Jones, S, Wraith, E, Fernhoff, P, Burton, B, Thomas, J, Greenstein, R, Jayakar, P, Whitley, C, Harmatz, P, Aleck, K.

وصف الملف: STAMPA

العلاقة: volume:10; firstpage:508; lastpage:516; journal:GENETICS IN MEDICINE; http://hdl.handle.net/11577/2274844Test

الإتاحة: http://hdl.handle.net/11577/2274844Test

المؤلفون: Brunner-Krainz, M, Gruber-Sedlmayr, U, Pfurtscheller, K, Sorantin, E, Kröpfl, T, Plecko, B

المصدر: Neuropediatrics ; volume 42, issue S 01 ; ISSN 0174-304X 1439-1899

الإتاحة: https://doi.org/10.1055/s-0031-1273972Test

المؤلفون: Kroepfl, T, Petek, E, Schwarzbraun, T, Kroisel, PM, Plecko, B

المصدر: Clinical Genetics ; volume 73, issue 5, page 492-495 ; ISSN 0009-9163 1399-0004

الإتاحة: https://doi.org/10.1111/j.1399-0004.2008.00982.xTest

المؤلفون: Kroepfl, T., Mair, E., Deutsch, J., Brunner‐Krainz, M., Paschke, E., Plecko, B.

المصدر: Journal of Inherited Metabolic Disease ; volume 29, issue 4, page 593-593 ; ISSN 0141-8955 1573-2665

الإتاحة: https://doi.org/10.1007/s10545-006-0312-1Test

المؤلفون: Kröpfl, T, Plecko, B, Schwarzbraun, T, Kroisel, P, Petek, E

المصدر: Neuropediatrics ; volume 37, issue 03 ; ISSN 0174-304X 1439-1899

الإتاحة: https://doi.org/10.1055/s-2006-953567Test

المؤلفون: Jones, S.A., Almássy, Z., Beck, Miroslav, Burt, K., Clarke, J.T., Giugliani, R., Hendriksz, C., Kroepfl, T., Lavery, L., Lin, S.P., Malm, G., Ramaswami, U., Tincheva, R., Wraith, J.E., Bodamer, O., De Meirleir, L., Melgar, D., Boy, R., Horovitz, D., Clarke, J., Clarke, L., Mabe, P., Barišić, Ingeborg, Barić, Ivo, Zeman, J., Lund, A.M., Guffon, N., Valayannopoulos, V., Héron, B., Beck, M., Frenking, G.S., Muschol, N., Zafeiriou, D., Gabrielli, O., Cicognani, A., DiRocco, M., Parini, R., Scarpa, M.

المصدر: Journal of inherited metabolic disease. 32(4)

مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Pediatrics, Adolescent, Idursulfase, Iduronate Sulfatase, Cohort Studies, Young Adult, Cause of Death, Epidemiology, Genetics, medicine, Humans, Mucopolysaccharidosis type II, Young adult, Child, Genetics (clinical), Cause of death, Mucopolysaccharidosis II, Retrospective Studies, MPS type II, business.industry, Data Collection, Age Factors, Infant, Hunter syndrome, Enzyme replacement therapy, medicine.disease, Surgery, Treatment Outcome, Child, Preschool, Female, Settore MED/35 - MALATTIE CUTANEE E VENEREE, business, medicine.drug, Cohort study

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2bd66a036aa63d641ff38568b18216f0Test
https://pubmed.ncbi.nlm.nih.gov/23462543Test