ArticleCurrent rheumatology reports2010
Metabolic myopathies.
Article in Current rheumatology reports, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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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.
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Who cites it
13 citing papers in PubMed, 38 citations in OpenAlex.
- Review
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- Novel Asp511Thr mutation in McArdle disease with acute kidney injury caused by rhabdomyolysis.CEN case reports · 2019Article
- Genetic variations related to maternal whole blood mitochondrial DNA copy number: a genome-wide and candidate gene study.The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians · 2017Article
- Placental mitochondrial DNA content and placental abruption: a pilot study.BMC research notes · 2015Article
- Acute rhabdomyolysis and inflammation.Journal of inherited metabolic disease · 2015Review
- Multiple acyl-CoA dehydrogenation deficiency as decreased acyl-carnitine profile in serum.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2015Article
- Mitochondrial protein quality control: the mechanisms guarding mitochondrial health.Antioxidants & redox signaling · 2015Review
- A thermolabile aldolase A mutant causes fever-induced recurrent rhabdomyolysis without hemolytic anemia.PLoS genetics · 2014Article
- Maternal blood mitochondrial DNA copy number and placental abruption risk: results from a preliminary study.International journal of molecular epidemiology and genetics · 2013Article
- Study of LPIN1, LPIN2 and LPIN3 in rhabdomyolysis and exercise-induced myalgia.Journal of inherited metabolic disease · 2012Article
- A case-control study of maternal blood mitochondrial DNA copy number and preeclampsia risk.International journal of molecular epidemiology and genetics · 2012Article
- Hyperactivation of oxidative mitochondrial metabolism in epithelial cancer cells in situ: visualizing the therapeutic effects of metformin in tumor tissue.Cell cycle (Georgetown, Tex.) · 2011Article
Corrections and comments
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Authors and funding
3 authors at 1 institution in 1 country.
Funding
Abstract
We consider recent developments in disorders affecting three areas of metabolism: glycogen, fatty acids, and the mitochondrial respiratory chain. Among the glycogenoses, new attention has been directed to defects of glycogen synthesis resulting in absence rather than excess of muscle glycogen ("aglycogenosis"). These include defects of glycogen synthetase and defects of glycogenin, the primer of glycogen synthesis. Considerable progress also has been made in our understanding of alterations of glycogen metabolism that result in polyglucosan storage. Among the disorders of lipid metabolism, mutations in the genes encoding two triglyceride lipases acting hand in hand cause severe generalized lipid storage myopathy, one associated with ichthyosis (Chanarin-Dorfman syndrome), the other dominated by juvenile-onset weakness. For the mitochondrial myopathies, we discuss the importance of homoplasmic mitochondrial DNA mutations and review the rapid progress made in our understanding of the coenzyme Q(10) deficiencies, which are often treatable.
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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.