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Carnitine palmitoyltransferase I deficiency
Results: 23

#	Item
11	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
12	Status Report on the Diagnosis and Treatment of CPT1A Deficiency in Alaska Add to Reading List Source URL: www.anthc.org Language: English - Date: 2008-11-12 13:41:30 Biology Hepatology Fatty acids Carnitine palmitoyltransferase I Fatty-acid metabolism disorder Rare diseases Fatty acid metabolism Carnitine Malonyl-CoA Metabolism Chemistry Medicine
13	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
14	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
15	Carnitine Palmitoyl Transferase 1 Deficiency (CPT1) What is a positive newborn screen? Newborn screening is done on tiny samples of blood taken from your baby’s heel 24 to 36 hours after birth. The blood is tested for Add to Reading List Source URL: www.michigan.gov Language: English - Date: 2012-12-07 10:32:27 Hepatology Epidemiology Newborn screening Pediatrics Carnitine palmitoyltransferase I deficiency Carnitine Screening Fatty-acid metabolism disorder Health Medicine Rare diseases
16	Microsoft Word - mso31.doc Add to Reading List Source URL: www.health.mo.gov Language: English - Date: 2006-09-11 10:19:50 Rare diseases Systemic primary carnitine deficiency Fatty-acid metabolism disorder Carnitine Newborn screening Fatty acid metabolism Cud Carnitine palmitoyltransferase I deficiency Carnitine-acylcarnitine translocase deficiency Health Medicine Hepatology
17	STATE OF NEW HAMPSHIRE DEPARTMENT OF HEALTH AND HUMAN SERVICES Nicholas A. Toumpas Commissioner Add to Reading List Source URL: www.dhhs.state.nh.us Language: English - Date: 2014-08-08 09:16:27 Newborn screening Propionic acidemia Methylmalonic acidemia Acyl CoA dehydrogenase Medium-chain acyl-coenzyme A dehydrogenase deficiency Malonyl-CoA decarboxylase deficiency Isovaleric acidemia Carnitine palmitoyltransferase I 3-Methylcrotonyl-CoA carboxylase deficiency Health Rare diseases Medicine
18	PARENT FACT SHEET DISORDER Carnitine uptake defect (CUD) CAUSE CUD occurs when an enzyme, called “carnitine transporter” (CT), is either missing or not working properly. Add to Reading List Source URL: www.chfs.ky.gov Language: English - Date: 2014-09-11 03:22:03 Chemistry Dietary supplements Quaternary ammonium compounds Carnitine Systemic primary carnitine deficiency Hypoglycemia Carnitine palmitoyltransferase I deficiency Carnitine-acylcarnitine translocase deficiency Medicine Health Hepatology
19	Hygienic Laboratory The University of Iowa For Questions About Resubmission and Result Interpretation Contact Medical Consultants LABORATORY HOSPITAL Add to Reading List Source URL: www.idph.state.ia.us Language: English - Date: 2007-06-25 16:37:50 Rare diseases Fatty-acid metabolism disorder Propionic acidemia Carnitine palmitoyltransferase I Biotinidase deficiency Isovaleric acidemia 3-Methylcrotonyl-CoA carboxylase deficiency Medium-chain acyl-coenzyme A dehydrogenase deficiency 2-Methylbutyryl-CoA dehydrogenase deficiency Health Genetic genealogy Medical genetics
20	Hygienic Laboratory The University of Iowa For Questions About Resubmission and Result Interpretation Contact Medical Consultants LABORATORY HOSPITAL Add to Reading List Source URL: www.idph.state.ia.us Language: English - Date: 2007-06-25 16:37:49 Rare diseases Fatty-acid metabolism disorder Propionic acidemia Carnitine palmitoyltransferase I Biotinidase deficiency Isovaleric acidemia 3-Methylcrotonyl-CoA carboxylase deficiency Medium-chain acyl-coenzyme A dehydrogenase deficiency 2-Methylbutyryl-CoA dehydrogenase deficiency Health Genetic genealogy Medical genetics