Carnitine Palmitoyltransferase 2 Deficiency
What's New
Last Posted: Feb 11, 2023
- Three Novel and One Potential Hotspot CPT1A Variants in Chinese Patients With Carnitine Palmitoyltransferase 1A Deficiency.
Zhang Weifeng, et al. Frontiers in pediatrics 2021 0 771922 - Exome-Based Rare-Variant Analyses in CKD.
Cameron-Christie Sophia, et al. Journal of the American Society of Nephrology : JASN 2019 5 - Carnitine palmitoyltransferase 2 deficiency
From NCATS Genetic and Rare Diseases Information Center - Carnitine palmitoyltransferase I deficiency , muscle
From NCATS Genetic and Rare Diseases Information Center - High frequency of ETFDH c.250G>A mutation in Taiwanese patients with late-onset lipid storage myopathy.
Lan M-Y, et al. Clinical genetics 2010 12 (6) 565-9 - Genetic risk factors associated with lipid-lowering drug-induced myopathies.
Vladutiu Georgirene D, et al. Muscle & nerve 2006 8 (2) 153-62 - Tandem mass spectrometric analysis for amino, organic, and fatty acid disorders in newborn dried blood spots: a two-year summary from the New England Newborn Screening Program.
Zytkovicz T H, et al. Clinical chemistry 2001 11 (11) 1945-55
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Content Summary
Selected Rare Diseases
- Alpha-1 Antitrypsin Deficiency
- Amyotrophic Lateral Sclerosis
- Brugada Syndrome
- Cerebral Palsy
- Cystic Fibrosis
- Duchenne Muscular Dystrophy
- Eclampsia
- Erythema Multiforme
- Familial Mediterranean Fever
- Fragile X Syndrome
- Gaucher Disease
- Glomerulonephritis
- Graves Disease
- Hemophilia
- Huntington Disease
- Microcephaly
- Myasthenia Gravis
- Phenylketonuria
- Retinitis Pigmentosa
- Severe Combined Immunodeficiency
Disclaimer: Articles listed in the Public Health Knowledge Base are selected by Public Health Genomics Branch to provide current awareness of the literature and news. Inclusion in the update does not necessarily represent the views of the Centers for Disease Control and Prevention nor does it imply endorsement of the article's methods or findings. CDC and DHHS assume no responsibility for the factual accuracy of the items presented. The selection, omission, or content of items does not imply any endorsement or other position taken by CDC or DHHS. Opinion, findings and conclusions expressed by the original authors of items included in the update, or persons quoted therein, are strictly their own and are in no way meant to represent the opinion or views of CDC or DHHS. References to publications, news sources, and non-CDC Websites are provided solely for informational purposes and do not imply endorsement by CDC or DHHS.
- Page last reviewed:Feb 1, 2024
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