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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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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
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
Highly Cited
1992
Highly Cited
1992
Cross‐Bridge Dynamics in Human Ventricular Myocardium: Regulation of Contractility in the Failing Heart
BackgroundTo 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
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
1984
1984
Trophic response of hamster brown adipose tissue: roles of norepinephrine and pineal gland.
The objective was to find out whether the reduced amount of brown adipose tissue in myopathic hamsters [Am. J. Physiol. 239 (Cell… Expand
1974
1974
Myopathic changes in amyotrophic lateral sclerosis
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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