ReviewJournal of biomedicine & biotechnology2010
Inborn errors of energy metabolism associated with myopathies.
Review in Journal of biomedicine & biotechnology, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 30 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
30 citing papers in PubMed, 61 citations in OpenAlex.
- Optimising Formulations for Paediatric Patients with Inherited Metabolic Disorders: The Case Study of Levocarnitine.Pharmaceutical medicine · 2026Review
- Navigating gastrointestinal challenges in genetic myopathies: Diagnostic insights and future directions.World journal of methodology · 2025Article
- Palliative Care for Children and Adults With Inherited Metabolic Disease in Europe: An Underutilised Service for Supportive Treatment and Care.Journal of inherited metabolic disease · 2025Article
- GlycineJIMD reports · 2025Article
- Skeletal Muscle Quantity Versus Quality in Heart Failure: Exercise Intolerance and Outcomes in Older Patients With HFpEF Are Related to Abnormal Skeletal Muscle Metabolism Rather Than Age-Related Skeletal Muscle Loss.Circulation. Heart failure · 2025Article
- Serum lipid metabolites predict the efficacy of intravenous immune globulin therapy in patients with pediatric dilated cardiomyopathy.Scientific reports · 2025Article
- How Can Promoting Skeletal Muscle Health and Exercise in Children and Adolescents Prevent Insulin Resistance and Type 2 Diabetes?Life (Basel, Switzerland) · 2024Review
- Fatigue as hallmark of Fabry disease: role of bioenergetic alterations.Frontiers in cardiovascular medicine · 2024Review
- Multisystem physiological perspective of human frailty and its modulation by physical activity.Physiological reviews · 2023Review
- Primary mitochondrial disease as a rare cause of unclear breathlessness and distinctive performance degradation - a case report.BMC pulmonary medicine · 2023Article
- Experimental evidence and clinical implications of Warburg effect in the skeletal muscle of Fabry disease.iScience · 2023Article
- Cardiac Involvement in Mitochondrial Disorders.Current heart failure reports · 2023Review
- Revealing the Impact of Mitochondrial Fitness During Early Neural Development Using Human Brain Organoids.Frontiers in molecular neuroscience · 2022Review
- DynamicScientific reports · 2021Article
- Exercise intolerance and rapid skeletal muscle energetic decline in human age-associated frailty.JCI insight · 2020Article
- Amino Acid Profile and Lactate Pyruvate Ratio: Potential Adjunct Markers for Differentiating Inborn Errors of Metabolism.Indian journal of clinical biochemistry : IJCB · 2020Article
- Article
- Re-balancing cellular energy substrate metabolism to mend the failing heart.Biochimica et biophysica acta. Molecular basis of disease · 2020Review
- Article
- Persistent hypoglycemia associated with lipid storage myopathy in a paint foal.Journal of veterinary internal medicine · 2018Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
3 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Inherited neuromuscular disorders affect approximately one in 3,500 children. Structural muscular defects are most common; however functional impairment of skeletal and cardiac muscle in both children and adults may be caused by inborn errors of energy metabolism as well. Patients suffering from metabolic myopathies due to compromised energy metabolism may present with exercise intolerance, muscle pain, reversible or progressive muscle weakness, and myoglobinuria. In this review, the physiology of energy metabolism in muscle is described, followed by the presentation of distinct disorders affecting skeletal and cardiac muscle: glycogen storage diseases types III, V, VII, fatty acid oxidation defects, and respiratory chain defects (i.e., mitochondriopathies). The diagnostic work-up and therapeutic options in these disorders are discussed.
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What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.