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Carnitine palmitoyltransferase I deficiency
- ... type I CPT I deficiency Liver form of carnitine palmitoyltransferase deficiency Genetic Testing Registry: Carnitine palmitoyl transferase 1A deficiency ...
- ... not show signs and symptoms of the condition. Carnitine palmitoyltransferase 2 deficiency CPT II deficiency CPT2 deficiency Genetic Testing Registry: ...
- ... PubMed Deschauer M, Wieser T, Zierz S. Muscle carnitine palmitoyltransferase II deficiency: clinical and molecular genetic features and diagnostic aspects. ...
- ... in CPT 1A define molecular heterogeneity of hepatic carnitine palmitoyltransferase I deficiency. Mol Genet Metab. 2004 May;82(1):59- ... 004. Citation on PubMed Bennett MJ, Santani AB. Carnitine Palmitoyltransferase 1A Deficiency. 2005 Jul 27 [updated 2016 Mar 17]. In: ...
