ReviewTherapeutic advances in neurological disorders2019
Metabolic lipid muscle disorders: biomarkers and treatment.
Review in Therapeutic advances in neurological disorders, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 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
26 citing papers in PubMed.
- Exercise based Intervention For Metabolic Inflexibility Linked With Lipid Storage Myopathy Using Innovative CRISPRbioRxiv : the preprint server for biology · 2026Article
- Case Report: a novelFrontiers in genetics · 2026Article
- A novel ETFDH mutation identified in a patient with riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency.Intractable & rare diseases research · 2025Article
- Lipid storage myopathy associated with sertraline treatment is an acquired mitochondrial disorder with respiratory chain deficiency.Acta neuropathologica · 2024Article
- Adult-onset carnitine palmitoyl transferase II (CPT II) deficiency presenting with rhabdomyolysis and acute kidney injury.CEN case reports · 2024Article
- Angiotensin-(1-7) improves skeletal muscle regeneration.European journal of translational myology · 2023Article
- Case report: Mitochondrial trifunctional protein deficiency caused byFrontiers in neurology · 2023Article
- The clinical, pathological, and genetic characteristics of lipid storage myopathy in northern China.Turkish journal of medical sciences · 2022Article
- Neutral lipid storage disease with myopathy: A 10-year follow-up case report.European journal of translational myology · 2022Article
- The 2022 On-site Padua Days on Muscle and Mobility Medicine hosts the University of Florida Institute of Myology and the Wellstone Center, March 30 - April 3, 2022 at the University of Padua and Thermae of Euganean Hills, Padua, Italy: The collection of abstracts.European journal of translational myology · 2022Article
- Lipid storage myopathy due to late-onset multiple Acyl-CoA dehydrogenase deficiency with novel mutations in ETFDH: A case report.Frontiers in neurology · 2022Article
- Biochemical Markers for the Diagnosis of Mitochondrial Fatty Acid Oxidation Diseases.Journal of clinical medicine · 2021Review
- Article
- Article
- Recurrent N209* ABHD5 mutation in two unreported families with Chanarin Dorfman Syndrome.European journal of translational myology · 2021Article
- Clinical Presentations and Genetic Characteristics of Late-Onset MADD Due toFrontiers in neurology · 2021Article
- A novelGenes & diseases · 2021Article
- A novel electron transfer flavoprotein dehydrogenase (ETFDH) gene mutation identified in a newborn with glutaric acidemia type II: a case report of a Chinese family.BMC medical genetics · 2020Article
- Thirty years of translational research in Mobility Medicine: Collection of abstracts of the 2020 Padua Muscle Days.European journal of translational myology · 2020Article
- Correlation between ETFDH mutations and dysregulation of serum myomiRs in MADD patients.European journal of translational myology · 2020Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
4 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Lipid storage myopathies (LSMs) are metabolic disorders of the utilization of fat in muscles due to several different defects. In this review, a molecular update of LSMs is presented and recent attempts of finding treatment options are discussed. The main topics discussed are: primary carnitine deficiency, riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency, neutral lipid storage disorders and carnitine palmitoyl transferase deficiency. The most frequent presentations and genetic abnormalities are summarized. We present their diagnosis utilizing biomedical and morphological biomarkers and possible therapeutic interventions. The treatment of these metabolic disorders is a subject of active translational research but appears, in some cases, still elusive.
Indexed as
Identifiers
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.