Zobrazeno 1 - 10
of 13
pro vyhledávání: '"Sá Miranda CM"'
Autor:
Braunlin, E, Rosenfeld, H, Kampmann, C, Johnson, J, Beck, M, Giugliani, R, Guffon, N, Ketteridge, D, Sá Miranda CM, Scarpa, M, Schwartz, Iv, Leão Teles, E, Wraith, Je, Barrios, P, Dias da Silva, E, Kurio, G, Richardson, M, Gildengorin, G, Hopwood, Jj, Imperiale, M, Schatz, A, Decker, C, Harmatz, P, CollaboratorsWaterson J, MPS VI Study G. r. o. u. p., Gizzi, E, Amraoui, Y, Victor, B, Arroyo, J, Bennett Jones DN, Bernard, P, de Villemeur, B, Boy, R, Coopman, E, Korinthenberg, R, Kretz, M, Lin, Sp, Martins, Am, O'Meara, A, Pastores, G, Pavone, L, Barone, RITA MARIA ELISA, Fiumara, Agata, Sorge, G, Pozzi, S, Preiss, U, Santos, Es, Souza, Ic, Silva, Lc, Valadares, Er, Keppen, L, Sillence, D, Lubitz, L, Frischman, W, Simon, J, Lee, C, Oates, S, Waber, L, Pais, R, Arash, L, Steiner, R, Whitley, Cb, Kaplan, P, Plecko, B.
Publikováno v:
Journal of inherited metabolic disease, vol 36, iss 2
Journal of Inherited Metabolic Disease
Journal of Inherited Metabolic Disease
Characteristic cardiac valve abnormalities and left ventricular hypertrophy are present in untreated patients with mucopolysaccharidosis type VI (MPS VI). Cardiac ultrasound was performed to investigate these findings in subjects during long-term enz
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ec7303212879361342e9a4ce56e8ee23
https://doi.org/10.5167/uzh-89163
https://doi.org/10.5167/uzh-89163
Autor:
Braunlin E; Pediatric Cardiology, University of Minnesota, Minneapolis, MN, USA., Rosenfeld H, Kampmann C, Johnson J, Beck M, Giugliani R, Guffon N, Ketteridge D, Sá Miranda CM, Scarpa M, Schwartz IV, Leão Teles E, Wraith JE, Barrios P, Dias da Silva E, Kurio G, Richardson M, Gildengorin G, Hopwood JJ, Imperiale M, Schatz A, Decker C, Harmatz P
Publikováno v:
Journal of inherited metabolic disease [J Inherit Metab Dis] 2013 Mar; Vol. 36 (2), pp. 385-94. Date of Electronic Publication: 2012 Jun 05.
Autor:
Giraldo P; Centro de Investigación Biomédica en Red de Enfermedades Raras, Zaragoza, Spain. giraldo.p@gmail.com, Alfonso P, Irún P, Gort L, Chabás A, Vilageliu L, Grinberg D, Sá Miranda CM, Pocovi M
Publikováno v:
Orphanet journal of rare diseases [Orphanet J Rare Dis] 2012 Mar 19; Vol. 7, pp. 17. Date of Electronic Publication: 2012 Mar 19.
Autor:
Orenstein, Marissa1 (AUTHOR), Barbouth, Deborah2 (AUTHOR), Bodamer, Olaf A.2,3 (AUTHOR), Weinreb, Neal J.2,4 (AUTHOR) boneal@winning.com
Publikováno v:
Orphanet Journal of Rare Diseases. 2014, Vol. 9 Issue 1, p45-54. 10p. 1 Black and White Photograph, 9 Charts, 1 Graph.
Autor:
Andrade-Campos, Marcio M.1,2,3 (AUTHOR), de Frutos, Laura López1,3,4 (AUTHOR), Cebolla, Jorge J.4,5 (AUTHOR), Serrano-Gonzalo, Irene3,4 (AUTHOR), Medrano-Engay, Blanca3,4 (AUTHOR), Roca-Espiau, Mercedes3,6 (AUTHOR), Gomez-Barrera, Beatriz7 (AUTHOR), Pérez-Heredia, Jorge8 (AUTHOR), Iniguez, David7,8 (AUTHOR), Giraldo, Pilar1,3,4 (AUTHOR) giraldocastellano@gmail.com
Publikováno v:
Orphanet Journal of Rare Diseases. 9/22/2020, Vol. 15 Issue 1, pN.PAG-N.PAG. 1p.
Autor:
Zhao, Rong-Rong, Ackers-Johnson, Matthew, Stenzig, Justus, Chen, Chen, Ding, Tao, Zhou, Yue, Wang, Peipei, Ng, Shi Ling, Li, Peter Y., Teo, Gavin, Rudd, Pauline M., Fawcett, James W., Foo, Roger S.Y.
Publikováno v:
Circulation; 6/5/2018, Vol. 137 Issue 23, p2497-2513, 17p
Autor:
Pineda, M., O'Callaghan, M., Fernandez Lopez, A., Coll, M. J., Ullot, R., Garcia-Fructuoso, G.
Publikováno v:
JIMD Reports, Volume 30; 2016, p7-14, 8p
Autor:
Giugliani, Roberto, Lampe, Christina, Guffon, Nathalie, Ketteridge, David, Leão‐Teles, Elisa, Wraith, James E., Jones, Simon A., Piscia‐Nichols, Cheri, Lin, Ping, Quartel, Adrian, Harmatz, Paul
Publikováno v:
American Journal of Medical Genetics. Part A; Aug2014, Vol. 164A Issue 8, p1953-1964, 12p
Autor:
Brands, Marion, Roelants, Jorine, de Krijger, Ronald, Bogers, Ad, Reuser, Arnold, van der Ploeg, Ans, Helbing, Wim
Publikováno v:
American Journal of Medical Genetics. Part A; Oct2013, Vol. 161A Issue 10, p2550-2553, 4p
This thoroughly revised third edition provides a comprehensive grounding on hereditary heart diseases with special emphasis on the genetic aspects of these conditions. It continues to provide the expertise that all cardiologists, clinical and molecul