Inborn error of metabolism

Results: 125



#Item
51Metabolism / Hepatology / Fatty-acid metabolism disorder / Newborn screening / Inborn error of lipid metabolism / Fatty acid metabolism / Carnitine / Nutrition / Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency / Medicine / Health / Fatty acids

Volume 20, Issue 1      

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Source URL: www.fodsupport.org

Language: English - Date: 2012-05-31 13:41:00
52Pediatrics / Medical genetics / Isovaleric acidemia / Newborn screening / 3-Methylbutanoic acid / Organic acidemia / Acidosis / Inborn error of metabolism / Genetic testing / Health / Medicine / Rare diseases

Microsoft Word - Isoval update 2011.doc

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Source URL: www.newbornscreening.info

Language: English - Date: 2011-06-22 18:01:20
53Metabolism / Coenzymes / Fatty acids / Hepatology / Rare diseases / Carnitine / Inborn error of lipid metabolism / Fatty-acid metabolism disorder / Fatty acid metabolism / Medicine / Chemistry / Biology

Citation: Transl Psychiatry[removed], e220; doi:[removed]tp[removed] & 2013 Macmillan Publishers Limited All rights reserved[removed]www.nature.com/tp Unique acyl-carnitine profiles are potential biomarkers

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Source URL: www.autismcanada.org

Language: English - Date: 2013-01-23 10:52:09
54Health economics / Medical terms / Rare disease / European Organization for Rare Diseases / Rare Disease Day / Orphan drug / Orphanet / Disease / Inborn error of metabolism / Health / Medicine / Epidemiology

2014 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]

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Source URL: www.eucerd.eu

Language: English - Date: 2014-07-11 08:43:47
55Nutrition / Fatty-acid metabolism disorder / Diets / Newborn screening / Inborn error of lipid metabolism / Fatty acid metabolism / Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency / Very long-chain acyl-coenzyme A dehydrogenase deficiency / Dieting / Health / Medicine / Fatty acids

Volume 18, Issue 1 Jan 2008 fatty oxidation disorder communication network

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Source URL: www.fodsupport.org

Language: English - Date: 2012-05-31 13:41:01
56Pediatrics / Glutaric aciduria type 1 / Metabolism / Newborn screening / Glutaryl-CoA dehydrogenase / Acidosis / Inborn error of metabolism / Organic acidemia / Metabolic acidosis / Health / Medicine / Rare diseases

Microsoft Word - GA-1_update_2013

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Source URL: www.newbornscreening.info

Language: English - Date: 2013-11-28 02:21:42
57Pediatrics / Epidemiology / Newborn screening / Maple syrup urine disease / Homocystinuria / Inborn error of metabolism / Health / Rare diseases / Medicine

Climb Conference th September National Mining Museum, Wakefield

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Source URL: www.climb.org.uk

Language: English - Date: 2014-07-24 04:47:57
58Pediatrics / Medical ethics / Genetic testing / Inborn error of metabolism / Genetic counseling / Newborn screening / Medicine / Health / Medical genetics

Maine Revised Statutes Title 22: HEALTH AND WELFARE Chapter 261-A: PREVENTION OF HANDICAPPING CONDITIONS §1533. ADVISORY PROGRAM FOR GENETIC CONDITIONS 1. Purpose; program. A voluntary statewide genetics program is est

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Source URL: www.mainelegislature.org

Language: English - Date: 2014-10-06 10:59:53
59Biology / Histiocytosis / Rare diseases / Erdheim–Chester disease / Syndromes / Pediatrics / Inborn error of metabolism / National Human Genome Research Institute / Genetic disorder / Health / Medicine / Medical genetics

ECD Global Alliance - Board of Directors Linda Adams, PhD[removed]Briarlake Ave Baton Rouge, LA[removed]Ph.D. in Microbiology (1987), B.S. in Microbiology (1981).

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Source URL: www.erdheim-chester.org

Language: English - Date: 2013-05-12 12:36:30
60Biology / Maple syrup urine disease / Branched-chain alpha-keto acid dehydrogenase complex / Inborn error of metabolism / Newborn screening / Branched-chain amino acid / Dihydrolipoamide dehydrogenase / Propionic acidemia / Methylmalonic acidemia / Health / Rare diseases / Medicine

Microsoft Word - msud_ref

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Source URL: www.idph.state.ia.us

Language: English - Date: 2007-06-25 16:37:12
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