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Inborn error of metabolism
Results: 125

#	Item
31	My Experiences and Understanding of VLCAD Deficiency and its Treatment Charles R. Roe, MD June 26, 2011 (Now retired) This disorder is characterized by the deficiency of the VLCAD Add to Reading List Source URL: www.fodsupport.org Language: English - Date: 2012-05-31 13:41:07 Coenzymes Fatty acids Very long-chain acyl-coenzyme A dehydrogenase deficiency Carnitine Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency Coenzyme A Lipid Inborn error of lipid metabolism Fatty-acid metabolism disorder Chemistry Metabolism Biology
32	MS/MS-BASED NEWBORN AND FAMILY SCREENING DETECTS ASYMPTOMATIC PATIENTS WITH VERY-LONG-CHAIN ACYL-COA DEHYDROGENASE DEFICIENCY UTE SPIEKERKOETTER, MD, BIN SUN, MD, THOMAS ZYTKOVICZ, PHD, RONALD WANDERS, PHD, ARNOLD W. STR Add to Reading List Source URL: www.fodsupport.org Language: English - Date: 2012-05-31 13:41:14 Rare diseases Medium-chain acyl-coenzyme A dehydrogenase deficiency Newborn screening Very long-chain acyl-coenzyme A dehydrogenase deficiency Fatty-acid metabolism disorder Acyl CoA dehydrogenase Phenylketonuria Mitochondrial trifunctional protein Inborn error of lipid metabolism Health Genetic genealogy Medical genetics
33	Microsoft Word - GA-2_update_2013 Add to Reading List Source URL: www.newbornscreening.info Language: English - Date: 2013-11-28 02:24:58 Rare diseases Metabolism Pediatrics Glutaric acidemia type 2 Glutaric aciduria type 1 Hepatology Newborn screening Fatty-acid metabolism disorder Inborn error of metabolism Health Medicine Genetic genealogy
34	Introduction to the Newborn Screening Fact Sheets Celia I. Kaye and Committee on Genetics Pediatrics 2006;118;[removed]DOI: [removed]peds[removed]This information is current as of September 6, 2006 Add to Reading List Source URL: genes-r-us.uthscsa.edu Language: English - Date: 2012-01-12 15:50:53 Pediatrics Epidemiology Newborn screening Medical genetics Medical tests Inborn error of lipid metabolism Methylmalonic acidemia Very long-chain acyl-coenzyme A dehydrogenase deficiency Galactosemia Medicine Health Rare diseases
35	PRENATAL DIAGNOSIS Prenat Diagn 2001; 21: 52±54. INVITED COMMENTARY: CURRENT ISSUES IN OBSTETRICS AND GENETICS Add to Reading List Source URL: www.fodsupport.org Language: English - Date: 2012-05-31 13:41:15 Medicine Coenzymes Fatty acids Inborn error of lipid metabolism Fatty-acid metabolism disorder Fatty acid metabolism Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency Carnitine Very long-chain acyl-coenzyme A dehydrogenase deficiency Biology Chemistry Metabolism
36	BinderE for SJC Sept05.p65 Add to Reading List Source URL: www.cpsp.cps.ca Language: English - Date: 2012-10-22 14:28:32 Medium-chain acyl-coenzyme A dehydrogenase deficiency Newborn screening Fatty-acid metabolism disorder ACADM Hypoglycemia Acute fatty liver of pregnancy Carnitine Inborn error of lipid metabolism Health Medicine Pediatrics
37	EmergencyDepartment Pathway Ats Revised8-9-04 Add to Reading List Source URL: www.fodsupport.org Language: English - Date: 2012-05-31 13:40:57 Nitrogen metabolism Rare diseases Urea cycle Pediatrics Ammonia Methylmalonic acidemia Urea Maple syrup urine disease Inborn error of metabolism Medicine Biology Health
38	[removed]Resolving The Paradox Optional Medical Food Reimbursement vs Mandatory Newborn Screening FAO & OAA Conference – Portland, OR July 20-21, 2012 Add to Reading List Source URL: www.fodsupport.org Language: English - Date: 2012-08-13 17:10:05 Applied sciences Food science Health sciences Phenylketonuria Health insurance Inborn error of metabolism Healthcare Common Procedure Coding System Employee Retirement Income Security Act Nutrition Health Medicine Pediatrics
39	Microsoft Word - CAT_update_2013 Add to Reading List Source URL: www.newbornscreening.info Language: English - Date: 2013-12-01 02:16:23 Chemistry Carnitine-acylcarnitine translocase deficiency Fatty-acid metabolism disorder Carnitine Translocase Newborn screening Inborn error of lipid metabolism Medium-chain acyl-coenzyme A dehydrogenase deficiency Health Rare diseases Medicine
40	Glutaric Acidemia Type 1 (GA1) (metabolic condition: organic acid disorder) Also known as: • glutaryl-CoA dehydrogenase deficiency • glutaric aciduria type 1 Add to Reading List Source URL: www.albertahealthservices.ca Language: English - Date: 2013-09-16 18:32:33 Pediatrics GA1 Organic acidemia Glutaryl-CoA dehydrogenase Medical genetics Carnitine Inborn error of metabolism Metabolism Medicine Health Glutaric aciduria type 1

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