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2015, ISBN 1621821374, xix, 388 p., 12 unnumbered p.s of plates
.... It recounts the now century long effort of small groups of physicians and scientists to take on some of these genetic diseases... 
Genetic disorders in children | MEDICAL / Diseases | Medical genetics | SCIENCE / Life Sciences / Genetics & Genomics | Genetic Diseases, Inborn | MEDICAL / Pediatrics | Rare Diseases | Research | Child
Book
2013, 1, ISBN 9781906093525, vi, 272
This book presents some of the latest developments in the world of rare disease entrepreneurship from a global group of experts... 
Rare diseases | Treatment | Research | Drug development | Social entrepreneurship | Corporate Social Responsibility & Business Ethics | Environment & Business | Orphan Drug Production | Europe | Entrepreneurship | Organization & administration | Drug therapy | Methods
Book
2010, ISBN 0521517818, xiii, 223
... of the metabolic block present in the patient. Among other therapies, the authors discuss the use of zinc and tetrathiomolybdate to treat Wilson's disease and the use of cysteamine to treat nephropathic cystinosis. 
Metabolism, Inborn errors of | Chemotherapy | Genetic disorders | Handbooks, manuals, etc | Gene therapy
Book
Current pharmaceutical biotechnology, ISSN 1389-2010, 2018, Volume 19, Issue 5, pp. 382 - 399
Background: Replacement therapies have revolutionized treatment paradigms in metabolic diseases by restoring defective enzymes and supplementing missing downstream metabolites... 
Metabolic disease | Rare diseases | Recombinant enzymes | Gene therapy | Enzyme replacement therapy | Lysosomal storage disorder | Pharmacology & Pharmacy | Biochemistry & Molecular Biology | Life Sciences & Biomedicine | Science & Technology | Enzymes | Disease | Metabolites | Medical innovations | Medical treatment | Innovations | Supplementation | Substrates | Metabolic disorders
Journal Article
2014, Woodhead publishing series in biomaterial, ISBN 9780081000663, Volume no. 68., xxiv, 112
Most books discuss general and broad topics regarding molecular imagings. However, Ultrasmall Lanthanide Oxide Nanoparticles for Biomedical Imaging and Therapy... 
Nanoparticles | Diagnostic imaging | Rare earths | Imaging systems in medicine
Book
by Brignole, Michele and Auricchio, Angelo and Baron-Esquivias, Gonzalo and Bordachar, Pierre and Boriani, Giuseppe and Breithardt, Ole-A and Cleland, John and Deharo, Jean-Claude and Delgado, Victoria and Elliott, Perry M and Gorenek, Bulent and Israel, Carsten W and Leclercq, Christophe and Linde, Cecilia and Mont, Lluis and Padeletti, Luigi and Sutton, Richard and Vardas, Panos E and Luis Zamorano, Jose and Achenbach, Stephan and Baumgartner, Helmut and Bax, Jeroen J and Bueno, Hector and Dean, Veronica and Deaton, Christi and Erol, Cetin and Fagard, Robert and Ferrari, Roberto and Hasdai, David and Hoes, Arno W and Kirchhof, Paulus and Knuuti, Juhani and Kolh, Philippe and Lancellotti, Patrizio and Linhart, Ales and Nihoyannopoulos, Petros and Piepoli, Massimo F and Ponikowski, Piotr and Sirnes, Per Anton and Luis Tamargo, Juan and Tendera, Michal and Torbicki, Adam and Wijns, William and Windecker, Stephan and Kirchhof, Paulus and Blomstrom-Lundqvist, Carina and Badano, Luigi P and Aliyev, Farid and Baensch, Dietmar and Baumgartner, Helmut and Bsata, Walid and Buser, Peter and Charron, Philippe and Daubert, Jean-Claude and Dobreanu, Dan and Faerestrand, Svein and Hasdai, David and Hoes, Arno W and Le Heuzey, Jean-Yves and Mavrakis, Hercules and McDonagh, Theresa and Luis Merino, Jose and Nawar, Mostapha M and Nielsen, Jens Cosedis and Pieske, Burkert and Poposka, Lidija and Ruschitzka, Frank and Tendera, Michal and Van Gelder, Isabelle C and Wilson, Carol M and ESC Comm Practice Guidelines CPG and Authors Task Force Members and Document Reviewers and ESC Committee for Practice Guidelines (CPG)
European heart journal, ISSN 0195-668X, 08/2013, Volume 34, Issue 29, pp. 2281 - 2329
Journal Article
2017, Fifth edition., ISBN 9781119196204, 1299
The fifth edition of the only comprehensive text dealing exclusively with rare or infrequently encountered malignancies in adults and children is an essential... 
Rare Diseases | Neoplasms | Tumors | Rare diseases | Cancer
Book
The New England journal of medicine, ISSN 1533-4406, 10/2019, Volume 381, Issue 17, pp. 1644 - 1652
Journal Article