Inborn error of metabolism - PDFSEARCH.IO - Document Search Engine

Inborn error of metabolism
Results: 125

#	Item
81	Package ‘icd9’ July 21, 2014 Title Tools for Working with ICD-9 Codes, and Finding Comorbidities Description This package allows accurate manipulation, conversion, validation and comparison of ICD-9-CM (clinical modi Add to Reading List Source URL: cran.r-project.org Language: English - Date: 2014-07-21 14:07:56 United States Department of Health and Human Services International Statistical Classification of Diseases and Related Health Problems Psychopathology World Health Organization Healthcare Cost and Utilization Project Comorbidity External cause Inborn error of metabolism Medicine Health Medical classification
82	November 11, 2010 www.simd.org BOARD OF DIRECTORS Bruce A. Barshop, M.D. Ph.D. University of California-San Diego Add to Reading List Source URL: osp.od.nih.gov Language: English - Date: 2013-10-22 14:11:38 Pediatrics Medical tests Rare diseases Medical ethics Genetic testing Newborn screening Screening Inborn error of metabolism Genetic counseling Medicine Health Medical genetics
83	Microsoft PowerPoint - November LP SC presentation [Read-Only] [Compatibility Mode] Add to Reading List Source URL: southeastgenetics.org Language: English - Date: 2010-11-30 18:27:12 Biology Pediatrics Metabolism Dicarboxylic acids GA1 Inborn error of metabolism Organic acidemia Dystonia Hypotonia Health Medicine Glutaric aciduria type 1
84	Microsoft Word - Current News on Expanded Newborn Screening[removed]doc Add to Reading List Source URL: www.chfs.ky.gov Language: English - Date: 2014-09-11 07:17:02 Medical genetics Newborn screening Methylmalonic acidemia Propionic acidemia Isovaleric acidemia Inborn error of lipid metabolism Glutaric aciduria type 1 Medium-chain acyl-coenzyme A dehydrogenase deficiency Very long-chain acyl-coenzyme A dehydrogenase deficiency Health Rare diseases Genetic genealogy
85	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
86	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
87	Disease Name: 3-METHYLGLUTACONIC ACIDURIA TYPE II (X-LINKED CARIOSKELATAL MYOPATHY, NEUTROPENIA & ABNORMAL MITOCHONDRIA) (BARTH SYNDROME; MGA, TYPE II) Add to Reading List Source URL: public.health.oregon.gov Language: English - Date: 2011-01-16 02:53:01 Methylglutaconyl-CoA hydratase Tafazzin Barth syndrome 3-Methylglutaconic acid Inborn error of metabolism Biology 3-Methylglutaconic aciduria OPA3
88	o ALLIANCE OF GENETIC SUPPORT GROUPS ANNUAL REPORT 1992 REPORT FROM JOAN WEISS, MSW EXECUTIVE DIRECTOR Add to Reading List Source URL: www.geneticalliance.org Language: English - Date: 2013-07-25 16:04:52 Health Genetic counseling Medical genetics of Jewish people American Society of Human Genetics Genetic disorder National Society of Genetic Counselors Inborn error of metabolism Down syndrome Medicine Medical genetics Biology
89	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
90	A CHANCE TO THRIVE Dr. Barbara Marriage is stubborn. “Or as my father always said, a dog with a bone,” she laughs. What did he mean by that? “If I feel strongly about something, I just don’t give up,” she says. Add to Reading List Source URL: www.abbott.com Language: English - Date: 2014-08-27 10:55:16 Food science Health sciences Self-care Inborn error of metabolism Metabolism Phenylketonuria Food energy Malnutrition Health Medicine Nutrition

UPDATE