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Inborn error of metabolism
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111	Microsoft PowerPoint - HAEBERLE - E-IMD.ppt Add to Reading List Source URL: ec.europa.eu Language: English - Date: 2011-10-28 11:09:57 Genetic genealogy Methylmalonic acidemia Isovaleric acidemia Propionic acidemia Inborn error of metabolism Organic acidemia Glutaric aciduria type 1 Urea cycle disorder Vitamin B12 Health Rare diseases Medicine
112	Frequently Asked Questions 1. If no members of my family have any type of IEM can I still have a child with the condition? Yes. Due to the way the diseases are inherited, it is possible for the defective gene to be pres Add to Reading List Source URL: www.mrds.org.my Language: English - Date: 2011-03-08 01:09:42 Genetic genealogy Medical genetics Inborn errors of carbohydrate metabolism Pediatrics Galactosemia Maple syrup urine disease Genetic disorder Inborn error of metabolism Phenylketonuria Health Medicine Rare diseases
113	Propionic acidemia consensus conference summary Add to Reading List Source URL: www.oaanews.org Language: English - Date: 2012-01-04 11:28:53 Propionic acidemia Methylmalonic acidemia Isovaleric acidemia Organic acidemia Newborn screening Inborn error of metabolism Hyperglycinemia Acidosis Health Rare diseases Medicine
114	Natural history of propionic acidemia Add to Reading List Source URL: www.oaanews.org Language: English - Date: 2012-01-04 11:28:44 Genetic genealogy Propionic acidemia Methylmalonic acidemia Glutaric aciduria type 1 Glutaric acidemia type 2 Organic acidemia Metabolic acidosis Acidosis Inborn error of metabolism Health Medicine Rare diseases
115	NATIONAL METABOLIC CONFERENCE JULY 25-26, 2014 AGENDA ______________________________________________________________________________________________ Add to Reading List Source URL: www.fodsupport.org Language: English - Date: 2014-06-20 14:33:45 Pediatrics Bethesda Maryland National Institutes of Health Nursing research Inborn error of metabolism PM Medicine Health Cancer research
116	CLIMB DVDs Currently Available TITLE BY A Diagnosis of MPS I: What Does This Mean? Add to Reading List Source URL: www.climb.org.uk Language: English - Date: 2014-03-25 08:47:22 Rare diseases Newborn screening Inborn error of metabolism Fatty-acid metabolism disorder Medium-chain acyl-coenzyme A dehydrogenase deficiency Lysosomal storage disease Malonyl-CoA decarboxylase deficiency Methylmalonic acidemia Congenital adrenal hyperplasia Health Medicine Pediatrics
117	INBORN METABOLIC DISORDERS Inborn Metabolic Disorders, called also Inborn Errors of Metabolism, are a large group of genetic diseases caused by malfunctioning of a specific metabolic pathway. A metabolic pathway is a num Add to Reading List Source URL: www.climb.org.uk Language: English - Date: 2014-03-19 09:08:25 Inborn errors of carbohydrate metabolism Inborn error of metabolism Metabolism Pediatrics Medical genetics Galactose-1-phosphate uridylyltransferase deficiency Health Medicine Rare diseases
118	Press release concerning material being considered by the Czech Government "National Strategy for rare diseases[removed]" Rare diseases are complex, mainly genetic (or congenital) diseases with low incidence among the p Add to Reading List Source URL: www.europlanproject.eu Language: English - Date: 2013-04-08 03:39:27 Epidemiology Rare diseases Orphan drug European Organization for Rare Diseases Chronic Cystic fibrosis Orphanet Inborn error of metabolism Rare Disease Day Health Medicine Pediatrics
119	DEAR COLLEAGUES We invite You to take part in I National Congress “Rare diseases and inborn development defects as the important medical and social problem of 21 century: diagnosis, treatment, prevention” on[removed]of Add to Reading List Source URL: clingenetic.com.ua Language: English - Date: 2013-06-04 13:17:17 Epidemiology Cancer research Clinical research Medical genetics Medical diagnosis Inborn error of metabolism Molecular medicine Newborn screening Rare disease Medicine Health Pediatrics
120	DEAR COLLEAGUES We invite You to take part in I National Congress “Rare diseases and inborn development defects as the important medical and social problem of 21 century: diagnosis, treatment, prevention” on[removed]of Add to Reading List Source URL: clingenetic.com.ua Language: English - Date: 2013-06-03 14:23:17 Epidemiology Cancer research Clinical research Medical genetics Medical diagnosis Inborn error of metabolism Molecular medicine Newborn screening Rare disease Medicine Health Pediatrics

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