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The Capital Region of Denmark - a part of Copenhagen University Hospital
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Impaired lipolysis in propionic acidemia: A new metabolic myopathy?

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  1. Genotype and phenotype classification of 29 patients affected by Krabbe disease

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  2. Impaired fat oxidation during exercise in multiple acyl-CoA dehydrogenase deficiency

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  3. Diagnostic pitfalls in vitamin B6-dependent epilepsy caused by mutations in the PLPBP gene

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  4. Cognitive Impairments and Subjective Cognitive Complaints in Fabry Disease: A Nationwide Study and Review of the Literature

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  2. Phenotypic Spectrum of α-Dystroglycanopathies Associated With the c.919T>a Variant in the FKRP Gene in Humans and Mice

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  3. Bimagrumab vs Optimized Standard of Care for Treatment of Sarcopenia in Community-Dwelling Older Adults: A Randomized Clinical Trial

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  4. Vacuoles, Often Containing Glycogen, Are a Consistent Finding in Hypokalemic Periodic Paralysis

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  5. Editorial: Remaining diagnostic issues and start of a treatment era for muscle diseases

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The objective of this study was to investigate the fat and carbohydrate metabolism in a patient with propionic acidemia (PA) during exercise by means of indirect calorimetry and stable isotope technique. A 34-year-old patient with PA performed a 30-minute submaximal cycle ergometer test. Data were compared to results from six gender- and age-matched healthy controls. Main findings are that the patient with PA had impaired lipolysis, blunted fatty acid oxidation, compensatory increase in carbohydrate utilization, and low work capacity. Our findings indicate that PA should be added to the list of metabolic myopathies.

Original languageEnglish
JournalJIMD Reports
Volume53
Issue number1
Pages (from-to)16-21
Number of pages6
ISSN2192-8304
DOIs
Publication statusPublished - May 2020

ID: 59938310