SLC22A5

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1	RESEARCH NOTE The importance of molecular diagnosis in the accurate diagnosis of systemic carnitine deficiency TOSHIAKI HITOMI1,a, NORIO MATSUURA1,a, YOSUKE SHIGEMATSU2, YOSHIYUKI OKANO3, ERI SHINOZAKI4, MASAHIKO KAWAI5, Add to Reading List Source URL: www.ias.ac.in Language: English - Date: 2014-10-27 08:11:23 Chemistry Rare diseases Dietary supplements Quaternary ammonium compounds Systemic primary carnitine deficiency Carnitine SLC22A5 Newborn screening Health Medicine Hepatology
2	CARNITINE TRANSPORTER DEFICIENCY (CTD) REFERENCES (SYSTEMIC CARNITINE DEFICIENCY; CARNITINE DEFICIENCY, PRIMARY; CARNITINE UPTAKE DEFECT; CUD) 1. 2. Add to Reading List Source URL: www.idph.state.ia.us Language: English - Date: 2007-06-25 16:36:03 Health Solute carrier family Transport proteins Fatty acids Rare diseases Systemic primary carnitine deficiency Carnitine Fatty-acid metabolism disorder SLC22A5 Medicine Hepatology Biology
3	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