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CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LATE-ONSET

Known as: Carnitine Palmitoyltransferase II Deficiency, Adult-Onset, CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, MYOPATHIC, CPT2 DEFICIENCY, LATE-ONSET 
 
National Institutes of Health

Related topics

Related topics

11 relations
Autosomal dominant inheritanceAutosomal recessive inheritanceKidney FailureMuscle Cramp
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Broader (4)

Carnitine O-PalmitoyltransferaseLipid Metabolism, Inborn ErrorsMitochondrial DiseasesMyopathy

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2018
2018
AAV-mediated follistatin gene therapy improves functional outcomes in the TIC-DUX4 mouse model of FSHD.
Facioscapulohumeral muscular dystrophy (FSHD) is an autosomal dominant or digenic disorder linked to derepression of the toxic… Expand
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2016
2016
Myopathic mtDNA Depletion Syndrome Due to Mutation in TK2 Gene
Whole-exome sequencing was used to identify the disease gene(s) in a Spanish girl with failure to thrive, muscle weakness, mild… Expand
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2015
2015
Novel Regulation of the Synthesis of α-Amino-3-hydroxy-5-methyl-4-isoxazolepropionic Acid (AMPA) Receptor Subunit GluA1 by Carnitine Palmitoyltransferase 1C (CPT1C) in the Hippocampus*
Background: One interacting partner of the AMPA receptor (AMPAR) complex in the endoplasmic reticulum is carnitine… Expand
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Review
2012
Review
2012
What are the important subsets of gastroparesis?
Gastroparesis is often divided into subsets based on etiology and pathophysiology; however, the utility of these subsets in the… Expand
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1993
1993
Altered pyruvate dehydrogenase control and mitochondrial free Ca2+ in hearts of cardiomyopathic hamsters.
The fraction of total pyruvate dehydrogenase in the active, dephosphorylated form is much lower in the glucose-perfused isolated… Expand
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1992
1992
Cross-bridge dynamics in human ventricular myocardium. Regulation of contractility in the failing heart.
BACKGROUND To investigate whether altered cross-bridge kinetics contribute to the contractile abnormalities observed in heart… Expand
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1988
1988
Reduced lipid peroxidation in dilated hearts of cardiomyopathic turkeys.
Adverse pulmonary reactions to some nitrofuran antibiotics are thought, in part, to involve production of reactive oxygen… Expand
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1987
1987
Microvascular reactivity of the myopathic Syrian hamster cremaster muscle.
The myopathic Syrian hamster is a genetic model of congestive heart failure that exhibits focal myocytolytic necrosis in both… Expand
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1974
1974
Myopathic changes in amyotrophic lateral sclerosis. Pathologic analysis of muscle biopsy changes in 111 cases.
Muscle biopsies from 111 patients 29 to 73 years of age with motor neurone disease were examined histologically. Group or… Expand
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1974
1974
Depressed fatty acid and acetate oxidation and other metabolic defects in homogenates from hearts of hamsters with hereditary cardiomyopathy.
Metabolic changes in heart homogenate of Syrian hamsters with hereditary cardiomyopathy (BIO 14.6 strain) were examined… Expand
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