Carnitine palmitoyl transferase 1 deficiency
Other Names for this Disease
- Carnitine palmitoyltransferase 1A deficiency
- CPT1A deficiency
- Hepatic carnitine palmitoyltransferase 1 deficiency
- Hepatic CPT1
- L-CPT 1 deficiency
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- GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions. Click on the link to view the article on this topic.
- Orphanet Emergency Guidelines is an article which is expert-authored and peer-reviewed that is intended to guide health care professionals in emergency situations involving this condition.
- ClinicalTrials.gov lists trials that are studying or have studied Carnitine palmitoyl transferase 1 deficiency. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.
- The U.S. National Institutes of Health, through the National Library of Medicine, developed ClinicalTrials.gov to provide patients, family members, and members of the public with current information on clinical research studies. There is a study titled Studies of Children with Metabolic or Other Genetic Disorders which may be of interest to you. To find this trial, click on the link above.