Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Anna Maria Martins"'
Autor:
R. Rodney Howell, Robert D. Steiner, Barry J. Byrne, Cynthia J. Tifft, Anna Maria Martins, Steven Downs, Michael S. Watson, Alfred E. Slonim, Priya S. Kishnani, Carolyn T. Spencer, John Crowley, Richard M. Kravitz, Kenneth I. Berger, Deeksha Bali, Gwen O'Grady, Laura E. Case, Marc C. Patterson, Marc Nicolino, David M. Rapoport, David S. Millington, Deborah Marsden, Joanne Mackey
Publikováno v:
Genetics in Medicine
Disclaimer: ACMG standards and guidelines are designed primarily as an educational resource for physicians and other health care providers to help them provide quality medical genetic services. Adherence to these standards and guidelines does not nec
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4a72c595389ce2cb9e6b722d07d59009
http://europepmc.org/articles/PMC3110959
http://europepmc.org/articles/PMC3110959
Autor:
P. Hwu, J. Goldblatt, Pramod K. Mistry, G. M. Pastores, Anna Maria Martins, C. E. M. Hollak, Mario Maas, Timothy M. Cox, Nadia Belmatoug, S. vom Dahl, Johannes M. F. G. Aerts, G.A. Grabowski, Maria Domenica Cappellini, Neal J. Weinreb, Anna Tylki-Szymańska, J. Yee
Publikováno v:
Journal of inherited metabolic disease. 31(3)
Enzyme replacement was introduced as treatment for non-neuronopathic Gaucher disease more than 15 years ago. To ensure the best use of this costly ultra-orphan agent, a systematic disease management approach has been proposed by an international pane
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3b7a3931a8ef000bf5ab1a084bebe28f
https://pubmed.ncbi.nlm.nih.gov/18509745
https://pubmed.ncbi.nlm.nih.gov/18509745
Autor:
Michael W. Yeh, Henry J. Mankin, Ari Zimran, Stephan vom Dahl, M.D. Cappellini, Timothy M. Cox, Gregory A. Grabowski, Neal J. Weinreb, Edward H. Giannini, Anna Maria Martins, Carolyn Sawyer, Wuh-Liang Hwu
Publikováno v:
Molecular Genetics and Metabolism. 93:45
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::757da12b46492c336abf7970b3535308
https://doi.org/10.1016/j.ymgme.2007.10.129
https://doi.org/10.1016/j.ymgme.2007.10.129
Autor:
Anna Maria Martins, Steven Downs, Marc Nicolino, John Crowley, Barry J. Byrne, Priya S. Kishnani, Robert D. Steiner, David M. Rapoport, Joanne Mackey, Gwen O'Grady, Michael S. Watson, Cynthia J. Tifft, Alfred E. Slonim, Laura E. Case, R. Rodney Howell, Carolyn T. Spencer, Richard M. Kravitz, David S. Millington, Deborah Marsden, Kenneth I. Berger, Deeksha Bali, Marc C. Patterson
Publikováno v:
Genetics in Medicine. 8:382
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::ef3c58d076779c260cb9dcf97cbd83e5
https://doi.org/10.1097/00125817-200606000-00008
https://doi.org/10.1097/00125817-200606000-00008
Autor:
Elizabeth Lowe, Anna Maria Martins
Publikováno v:
World Literature Today. 53:268
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::66004c3fd641af537e25b67f98593c7b
https://doi.org/10.2307/40133636
https://doi.org/10.2307/40133636