Carnitine palmitoyltransferase II deficiency - PDFSEARCH.IO - Document Search Engine

Carnitine palmitoyltransferase II deficiency
Results: 14

#	Item
1	What is Carnitine ? Nelson LS Tang, MBChB, FRCPA Associate Professor Department of Chemical Pathology The Chinese University of Hong Kong Add to Reading List Source URL: www.cpy.cuhk.edu.hk Language: English - Date: 2014-07-15 07:47:36 Chemistry Systemic primary carnitine deficiency Carnitine Fatty-acid metabolism disorder Medium-chain acyl-coenzyme A dehydrogenase deficiency Fatty acid metabolism B vitamins Dicarboxylic acid Carnitine palmitoyltransferase II deficiency Medicine Hepatology Health
2	Microsoft Word - CPT-11.doc Add to Reading List Source URL: health.mo.gov Language: English - Date: 2007-09-13 15:39:40 Hepatology Chemistry Fatty-acid metabolism disorder Fatty acids Fatty acid metabolism Carnitine O-palmitoyltransferase Carnitine Newborn screening Carnitine palmitoyltransferase II deficiency Health Medicine Rare diseases
3	Carnitine palmitoyltransferase II deficiency: Successful anaplerotic diet therapy C. R. Roe, B-Z Yang, H. Brunengraber, D. S. Roe, M. Wallace and B. K. Garritson Neurology 2008;71;[removed]DOI: [removed]wnl[removed] Add to Reading List Source URL: www.fodsupport.org Language: English - Date: 2012-05-31 13:41:02 Hepatology Metabolism Fatty acids Triglycerides Triheptanoin Carnitine Fatty-acid metabolism disorder Anaplerotic reactions Myalgia Medicine Biology Health
4	FOD fatty oxidation disorder communication network July 2000 Add to Reading List Source URL: www.fodsupport.org Language: English - Date: 2012-05-31 13:41:16 Newborn screening Pediatrics Fatty-acid metabolism disorder Carnitine palmitoyltransferase II deficiency Very long-chain acyl-coenzyme A dehydrogenase deficiency 9 Health Medicine Epidemiology
5	sensitivity legend sensitivity >= 95% sensitivity >= 95% but with problem exons sensitivity 75-95% sensitivity < 75% mutation spectrum not well defined Add to Reading List Source URL: www.childrensmercy.org Language: English - Date: 2013-01-24 13:42:29 Genetics Genodermatoses Rare diseases Syndromes X-linked recessive inheritance 3-Methylglutaconic aciduria Congenital muscular dystrophy Epidermolysis bullosa Carnitine palmitoyltransferase II deficiency Health Medicine Genetic genealogy
6	Disease Name CARNITINE-ACYLCARNITINE TRANSLOCASE DEFICIENCY (CACT) (SOLUTE CARRIER FAMILY 25 (CARNITINE/ACYLCARNITINE TRANSLOCASE), MEMBER 20; CARNITINE-ACYLCARNITINE CARRIER; CACT DEFICIENCY) Fatty acid oxidation defect Add to Reading List Source URL: www.idph.state.ia.us Language: English - Date: 2007-06-25 16:35:55 Chemistry Rare diseases Carnitine-acylcarnitine translocase deficiency Translocase Carnitine Hyperammonemia Ketotic hypoglycemia Hypoglycemia Carnitine palmitoyltransferase II deficiency Health Medicine Solute carrier family
7	Microsoft Word - CPT1A_update_2013 Add to Reading List Source URL: www.newbornscreening.info Language: English - Date: 2013-12-01 02:22:00 Rare diseases Hepatology Fatty-acid metabolism disorder Fatty acids Carnitine palmitoyltransferase I Carnitine Fatty acid metabolism Newborn screening Carnitine palmitoyltransferase II deficiency Health Medicine Chemistry
8	Disease Name CARNITINE TRANSPORTER DEFICIENCY (CTD) (SYSTEMIC CARNITINE DEFICIENCY; CARNITINE DEFICIENCY, PRIMARY; CARNITINE UPTAKE DEFECT; CUD) Fatty acid oxidation defect Classification: Add to Reading List Source URL: www.idph.state.ia.us Language: English - Date: 2007-06-25 16:36:03 Systemic primary carnitine deficiency Carnitine Hypoglycemia Ketotic hypoglycemia SLC22A5 Cardiomyopathy Carnitine palmitoyltransferase II deficiency Carnitine palmitoyltransferase I Medicine Health Hepatology
9	Disease Name CARNITINE PALMITOYLTRANSFERASE II DEFICIENY (CPT II) (MYOPATHY WITH DEFICIENCY OF CARNITINE PALMITOYLTRANSFERASE II; CPT II DEFICIENCY, MYOPATHIC; HYPOGLYCEMIA, HYPOKETOTIC, WITH DEFICIENCY OF CARNITINE PALM Add to Reading List Source URL: www.idph.state.ia.us Language: English - Date: 2007-06-25 16:36:02 Biology Carnitine palmitoyltransferase II deficiency Carnitine palmitoyltransferase I Carnitine CPT2 Myoglobinuria Hypoglycemia Myalgia Fatty acid metabolism Medicine Hepatology Health
10	Microsoft Word - CPT2_update_2013 Add to Reading List Source URL: www.newbornscreening.info Language: English - Date: 2013-12-01 02:35:36 Rare diseases Chemistry Fatty-acid metabolism disorder Fatty acids Carnitine Newborn screening Fatty acid metabolism Carnitine palmitoyltransferase II deficiency Carnitine-acylcarnitine translocase deficiency Health Medicine Hepatology