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Clinical effect and safety profile of pegzilarginase in patients with arginase 1 deficiency
Clinical effect and safety profile of pegzilarginase in patients with arginase 1 deficiency
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Clinical effect and safety profile of pegzilarginase in patients with arginase 1 deficiency

Diaz, George A. ; Schulze, Andreas ; McNutt, Markey C. ; Leão‐Teles, Elisa ; Merritt, J. Lawrence ; Enns, Gregory M. ; Batzios, Spyros ; Bannick, Allison ; Zori, Roberto T. ; Sloan, Leslie S. ; Potts, Susan L. ; Bubb, Gillian ; Quinn, Anthony G.

Journal of inherited metabolic disease, 2021-07, Vol.44 (4), p.847-856 [Periódico revisado por pares]

Hoboken, USA: John Wiley & Sons, Inc

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2
Enzyme replacement therapy for mucopolysaccharidosis VI: long-term cardiac effects of galsulfase (Naglazyme®) therapy
Enzyme replacement therapy for mucopolysaccharidosis VI: long-term cardiac effects of galsulfase (Naglazyme®) therapy
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Enzyme replacement therapy for mucopolysaccharidosis VI: long-term cardiac effects of galsulfase (Naglazyme®) therapy

Braunlin, E. ; Rosenfeld, H. ; Kampmann, C. ; Johnson, J. ; Beck, M. ; Giugliani, R. ; Guffon, N. ; Ketteridge, D. ; Sá Miranda, C. M. ; Scarpa, M. ; Schwartz, I. V. ; Leão Teles, E. ; Wraith, J. E. ; Barrios, P. ; Dias da Silva, E. ; Kurio, G. ; Richardson, M. ; Gildengorin, G. ; Hopwood, J. J. ; Imperiale, M. ; Schatz, A. ; Decker, C. ; Harmatz, P.

Journal of inherited metabolic disease, 2013-03, Vol.36 (2), p.385-394 [Periódico revisado por pares]

Dordrecht: Springer Netherlands

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3
Newborn screening for homocystinurias: Recent recommendations versus current practice
Newborn screening for homocystinurias: Recent recommendations versus current practice
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Newborn screening for homocystinurias: Recent recommendations versus current practice

Keller, Rebecca ; Chrastina, Petr ; Pavlíková, Markéta ; Gouveia, Sofía ; Ribes, Antonia ; Kölker, Stefan ; Blom, Henk J. ; Baumgartner, Matthias R. ; Bártl, Josef ; Dionisi‐Vici, Carlo ; Gleich, Florian ; Morris, Andrew A. ; Kožich, Viktor ; Huemer, Martina ; Barić, Ivo ; Ben‐Omran, Tawfeq ; Blasco‐Alonso, Javier ; Bueno Delgado, Maria A. ; Carducci, Claudia ; Cassanello, Michela ; Cerone, Roberto ; Couce, Maria Luz ; Crushell, Ellen ; Delgado Pecellin, Carmen ; Dulin, Elena ; Espada, Mercedes ; Ferino, Giulio ; Fingerhut, Ralph ; Garcia Jimenez, Immaculada ; Gonzalez Gallego, Immaculada ; González‐Irazabal, Yolanda ; Gramer, Gwendolyn ; Juan Fita, Maria Jesus ; Karg, Eszter ; Klein, Jeanette ; Konstantopoulou, Vassiliki ; la Marca, Giancarlo ; Leão Teles, Elisa ; Leuzzi, Vincenzo ; Lilliu, Franco ; Lopez, Rosa Maria ; Lund, Allan M. ; Mayne, Philip ; Meavilla, Silvia ; Moat, Stuart J. ; Okun, Jürgen G. ; Pasquini, Elisabeta ; Pedron‐Giner, Consuélo Carmen ; Racz, Gabor Zoltan ; Ruiz Gomez, Maria Angeles ; Vilarinho, Laura ; Yahyaoui, Raquel ; Zerjav Tansek, Moja ; Zetterström, Rolf H. ; Zeyda, Maximilian

Journal of inherited metabolic disease, 2019-01, Vol.42 (1), p.128-139 [Periódico revisado por pares]

Hoboken, USA: John Wiley & Sons, Inc

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4
Newborn screening for homocystinurias: recent recommendations versus current practice
Newborn screening for homocystinurias: recent recommendations versus current practice
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Newborn screening for homocystinurias: recent recommendations versus current practice

Keller, R ; Chrastina, P ; Pavlíková, M ; Gouveia, S ; Ribes, A ; Kölker, S ; Blom, H J ; Baumgartner, M R ; Bártl, J ; Dionisi Vici, C ; Gleich, F ; Morris, A A ; Kožich, V ; Huemer, M ; Barić, I ; Ben-Omran, T ; Blasco-Alonso, J ; Bueno Delgado, M A ; Carducci, C ; Cassanello, M ; Cerone, R ; Couce, M L ; Crushell, E ; Delgado Pecellin, C ; Dulin, E ; Espada, M ; Ferino, G ; Fingerhut, R ; Garcia Jimenez, I ; Gonzalez Gallego, I ; González-Irazabal, Y ; Gramer, G ; Juan Fita, M J ; Karg, E ; Klein, J ; Konstantopoulou, V ; la Marca, G ; Leão Teles, E ; Leuzzi, V ; Lilliu, F ; Lopez, R M ; Lund, A M ; Mayne, P ; Meavilla, S ; Moat, S J ; Okun, J G ; Pasquini, E ; Pedron-Giner, C ; Racz, G Z ; Ruiz Gomez, M A ; Vilarinho, L ; Yahyaoui, R ; Zerjav Tansek, M ; Zetterström, R H ; Zeyda, M

Journal of inherited metabolic disease, 2018-06, p.1-12 [Periódico revisado por pares]

United States: Blackwell Publishing Ltd

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5
Evaluation of dietary treatment and amino acid supplementation in organic acidurias and urea‐cycle disorders: On the basis of information from a European multicenter registry
Evaluation of dietary treatment and amino acid supplementation in organic acidurias and urea‐cycle disorders: On the basis of information from a European multicenter registry
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Evaluation of dietary treatment and amino acid supplementation in organic acidurias and urea‐cycle disorders: On the basis of information from a European multicenter registry

Molema, Femke ; Gleich, Florian ; Burgard, Peter ; Ploeg, Ans T. ; Summar, Marshall L. ; Chapman, Kimberly A. ; Barić, Ivo ; Lund, Allan M. ; Kölker, Stefan ; Williams, Monique ; Hörster, F. ; Jelsig, A.M. ; Lonlay, P. ; Wijburg, F.A. ; Bosch, A. ; Freisinger, P. ; Posset, R. ; Augoustides‐Savvopoulou, P. ; Avram, P. ; Deleanu, C. ; Baumgartner, M.R. ; Häberle, J. ; Blasco‐Alonso, J. ; Burlina, A.B. ; Rubert, L. ; Cazorla, A. Garcia ; Saladelafont, E. Cortes i ; Dionisi‐Vici, C. ; Martinelli, D. ; Dobbelaere, D. ; Mention, K. ; Grünewald, S. ; Chakrapani, A. ; Hwu, Wuh‐Liang ; Chien, Yin‐Hsiu ; Lee, Ni‐Chung ; Karall, D. ; Scholl‐Bürgi, S. ; Lachmann, R. ; De Laet, C. ; Matsumoto, S. ; Meirleir, L. ; Mühlhausen, C. ; Schiff, M. ; Peña‐Quintana, L. ; Djordjevic, M. ; Sarajlija, A. ; Sykut‐Cegielska, J. ; Wisniewska, A. ; Leao‐Teles, E. ; Alves, S. ; Vara, R. ; Vives‐Pinera, I. ; Ortega, D.G. ; Morris, A. ; Zeman, J. ; Honzik, T. ; Chabrol, B. ; Arnaudo, F. ; Cano, A. ; Thompson, N. ; Eyskens, F. ; Lindner, M. ; Lüsebrink, N. ; Jalan, A. ; Sokal, E. ; Legros, V. ; Nassogne, M.C.

Journal of inherited metabolic disease, 2019-11, Vol.42 (6), p.1162-1175 [Periódico revisado por pares]

Hoboken, USA: John Wiley & Sons, Inc

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6
Mortality and cause of death in mucopolysaccharidosis type II—a historical review based on data from the Hunter Outcome Survey (HOS)
Mortality and cause of death in mucopolysaccharidosis type II—a historical review based on data from the Hunter Outcome Survey (HOS)
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Mortality and cause of death in mucopolysaccharidosis type II—a historical review based on data from the Hunter Outcome Survey (HOS)

Jones, S. A. ; Almássy, Z. ; Beck, M. ; 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.

Journal of inherited metabolic disease, 2009-08, Vol.32 (4), p.534-543 [Periódico revisado por pares]

Dordrecht: Springer Netherlands

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7
Enzyme replacement therapy for mucopolysaccharidosis VI: long-term cardiac effects of galsulfase (Naglazyme®) therapy: Mucopolysaccharidoses
Enzyme replacement therapy for mucopolysaccharidosis VI: long-term cardiac effects of galsulfase (Naglazyme®) therapy: Mucopolysaccharidoses
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Enzyme replacement therapy for mucopolysaccharidosis VI: long-term cardiac effects of galsulfase (Naglazyme®) therapy: Mucopolysaccharidoses

BRAUNLIN, E ; ROSENFELD, H ; SCHWARTZ, I. V ; TELES, E. Leao ; WRAITH, J. E ; BARRIOS, P ; DIAS DA SILVA, E ; KURIO, G ; RICHARDSON, M ; GILDENGORIN, G ; HOPWOOD, J. J ; IMPERIALE, M ; KAMPMANN, C ; SCHATZ, A ; DECKER, C ; HARMATZ, P ; JOHNSON, J ; BECK, M ; GIUGLIANI, R ; GUFFON, N ; KETTERIDGE, D ; SA MIRANDA, C. M ; SCARPA, M

Journal of inherited metabolic disease, 2013, Vol.36 (2), p.385-394 [Periódico revisado por pares]

Heidelberg: Springer

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  • Realização: ABCD-USP USP   Logos de Redes Sociais: Freepik

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