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#	Item
121	Orphanet Journal of Rare Diseases This Provisional PDF corresponds to the article as it appeared upon acceptance. Fully formatted PDF and full text (HTML) versions will be made available soon. Niemann-Pick disease type Add to Reading List Source URL: www.nnpdf.org Language: English - Date: 2010-06-08 17:44:24 Rare diseases NPC1 Niemann–Pick disease Niemann-Pick disease type C Lysosomal storage disease Epididymal secretory protein E1 Hepatosplenomegaly Cataplexy Splenomegaly Health Medicine Lipid storage disorders
122	Orphanet Journal of Rare Diseases This Provisional PDF corresponds to the article as it appeared upon acceptance. Fully formatted PDF and full text (HTML) versions will be made available soon. Survival and associated fa Add to Reading List Source URL: amdapompe.ehclients.com Language: English - Date: 2011-06-05 21:33:58 Hepatology Glycogen storage disease type II Medical terms Lysosomal storage disease Five-year survival rate Amyotrophic lateral sclerosis Health Medicine Rare diseases
123	2014 REPORT ON THE STATE OF THE ART OF RARE DISEASE ACTIVITIES IN EUROPE PART V: ACTIVITIES OF MEMBER STATES AND OTHER EUROPEAN COUNTRIES IN THE FIELD OF RARE DISEASES Add to Reading List Source URL: ec.europa.eu Language: English - Date: 2014-09-05 08:59:49 Science Pediatrics Rare diseases Agencies of the European Union European Organization for Rare Diseases Newborn screening Inborn error of metabolism Orphanet European Medicines Agency Health Epidemiology Medicine
124	LHNCB Medical Informatics Training Program Final Report Title: Analyzing rare diseases terms in biomedical terminologies Mentor: Dr. Olivier Bodenreider Training program: October, 2010 – December, 2010 Add to Reading List Source URL: mor.nlm.nih.gov Language: English - Date: 2011-07-24 15:23:20 Biology Unified Medical Language System SNOMED CT Orphanet Rare disease Systematized Nomenclature of Medicine Inborn error of metabolism Cryptococcosis Nursing diagnosis Medicine Health Medical classification
125	Orphanet (www.orpha.net) COLLOQUE FRANCO-QUÉBÉCOIS SUR LE PORTAIL DES MALADIES RARES ET DES MÉDICAMENTS ORPHELINS Add to Reading List Source URL: rqmo.org Language: French - Date: 2012-08-31 15:40:24
126	Analyzing rare diseases terms in biomedical terminologies Lister Hill National Center for Biomedical Communications Erika Pasceri, Bastien Rance, Olivier Bodenreider December 17, 2010 Add to Reading List Source URL: mor.nlm.nih.gov Language: English - Date: 2011-02-09 16:09:54 Fungal diseases Yeasts Epidemiology Tremellomycetes Cryptococcosis Rare disease SNOMED CT Orphanet Mycosis Medicine Health Biology
127	2013 REPORT ON THE STATE OF THE ART OF RARE DISEASE ACTIVITIES IN EUROPE STATE OF THE ART OF RARE DISEASE ACTIVITIES IN SWITZERLAND This work was financed by the EUCERD Joint Action: Working for Rare Diseases N° [removed] Add to Reading List Source URL: www.eucerd.eu Language: English - Date: 2013-07-09 10:02:34 Epidemiology Medical terms Rare disease European Organization for Rare Diseases Orphan drug Orphanet Rare Disease Day European Medicines Agency Inborn error of metabolism Health Medicine Science
128	Témoignage La SLA, qu’est-ce? Objectifs du CeSLA Add to Reading List Source URL: www.orphanet.ch Language: French - Date: 2014-06-16 08:33:56
129	Microsoft Word - Program_3rd_meeting_WGKID_24[removed] Add to Reading List Source URL: www.orphanet.ch - Date: 2014-04-14 06:02:16
130	Microsoft Word - radiz_Medienmitteilung.doc Add to Reading List Source URL: www.orphanet.ch Language: German - Date: 2013-02-27 05:38:38