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.

Dordrecht: Springer Netherlands

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Retrospective study of the medium-chain acyl-CoA dehydrogenase deficiency in Portugal

Ventura, F.V. ; Leandro, P. ; Luz, A. ; Rivera, I.A. ; Silva, M.F.B. ; Ramos, R. ; Rocha, H. ; Lopes, A. ; Fonseca, H. ; Gaspar, A. ; Diogo, L. ; Martins, E. ; Leão-Teles, E. ; Vilarinho, L. ; Tavares de Almeida, I.

Oxford, UK: Blackwell Publishing Ltd

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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

United States: Blackwell Publishing Ltd

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HTA26 Portuguese Clinical Practice and Costs in the Treatment of Acid Sphingomyelinase Deficiency Disease

Silva Miguel, L. ; Carvalho, P. ; Oliveira, A. ; Guimas, A. ; Leão Teles, E. ; Ferreira, S. ; Bulhosa, C. ; Pinheiro, B. ; Borges, M.

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Mutational Spectrum and Linkage Disequilibrium Patterns at the Ornithine Transcarbamylase Gene (OTC)

Azevedo, L. ; Soares, P. A. ; Quental, R. ; Vilarinho, L. ; Teles, E. L. ; Martins, E. ; Diogo, L. ; Garcia, P. ; Cenni, B. ; Wermuth, B. ; Amorim, A.

Oxford, UK: Blackwell Publishing Ltd

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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.

Hoboken, USA: John Wiley & Sons, Inc

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Threshold effect of urinary glycosaminoglycans and the walk test as indicators of disease progression in a survey of subjects with Mucopolysaccharidosis VI (Maroteaux-Lamy syndrome)

Swiedler, Stuart J. ; Beck, Michael ; Bajbouj, Manal ; Giugliani, Roberto ; Schwartz, Ida ; Harmatz, Paul ; Wraith, James E. ; Roberts, Jane ; Ketteridge, David ; Hopwood, John J. ; Guffon, Nathalie ; Sá Miranda, M. Clara ; Teles, Elisa Leão ; Berger, Kenneth I. ; Piscia-Nichols, Cheri

Hoboken: Wiley Subscription Services, Inc., A Wiley Company

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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

Heidelberg: Springer

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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

Springer 2013

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Evaluation of Enzyme-Linked Immunosorbent Assay for the Diagnosis of Helicobacter pylori Infection in Children From Different Age Groups With and Without Duodenal Ulcer

de Oliveira, Andreia Maria Rocha ; Rocha, Gifone Aguiar ; Queiroz, Dulciene Maria de Magalhães ; Mendes, Edilberto Nogueira ; de Carvalho, Anfrisina Sales Teles ; Ferrari, Teresa Cristina Abreu ; Nogueira, Ana Margarida Miguel Ferreira

Hagerstown, MD: Lippincott Williams & Wilkins, Inc

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