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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

Papers overview

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2018
2018
Facioscapulohumeral muscular dystrophy (FSHD) is an autosomal dominant or digenic disorder linked to derepression of the toxic… Expand
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2016
2016
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
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
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
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
BACKGROUND To investigate whether altered cross-bridge kinetics contribute to the contractile abnormalities observed in heart… Expand
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1988
1988
Adverse pulmonary reactions to some nitrofuran antibiotics are thought, in part, to involve production of reactive oxygen… Expand
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1987
1987
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
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
Metabolic changes in heart homogenate of Syrian hamsters with hereditary cardiomyopathy (BIO 14.6 strain) were examined… Expand
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