Skip to search formSkip to main content
You are currently offline. Some features of the site may not work correctly.

MITOCHONDRIAL MYOPATHY AND SIDEROBLASTIC ANEMIA

Known as: Myopathy with lactic acidosis and sideroblastic anemia, MLASA1, MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 1 
 
National Institutes of Health

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2020
2020
 
Is this relevant?
2019
2019
  • Josef Finsterer
  • Molecular genetics and metabolism reports
  • 2019
  • Corpus ID: 208033237
With interest we read the article by Woods et al. about two brothers aged 37y and 35y with MLASA due to the novel variant c.302A… Expand
Is this relevant?
Review
2018
Review
2018
Diagnosing primary mitochondrial diseases is challenging in clinical practice. Although, defective oxidative phosphorylation… Expand
  • figure 1
  • table 1
  • table 2
  • table 3
  • table 3
Is this relevant?
2018
2018
YARS2 variants have previously been described in patients with myopathy, lactic acidosis and sideroblastic anemia 2 (MLASA2… Expand
  • table 1
  • table 1
  • figure 1
  • table 2
  • table 3
Is this relevant?
2016
2016
Mitochondrial myopathy with lactic acidosis and sideroblastic anemia (MLASA) is an oxidative phosphorylation disorder, with… Expand
Is this relevant?
2015
2015
Myopathy-lactic acidosis-sideroblastic anemia (MLASA) syndrome is a rare autosomal recessive disease. We studied a 43-year-old… Expand
  • figure 1
  • figure 2
  • figure 3
  • figure 4
Is this relevant?
2013
2013
Nuclear-encoded disorders of mitochondrial translation are clinically and genetically heterogeneous. Genetic causes include… Expand
  • figure 1
  • table I
Is this relevant?
2012
2012
Mutations in the mitochondrial aminoacyl-tRNA synthetases (ARSs) are associated with a strikingly broad range of clinical… Expand
Is this relevant?
Highly Cited
2010
Highly Cited
2010
Mitochondrial respiratory chain disorders are a heterogeneous group of disorders in which the underlying genetic defect is often… Expand
Is this relevant?
2007
2007
هديكچ كيتكلا زوديسا و كيتسلابورديس يمنآ ،لايردنكوتيم يتاپويم مردنس ) MLASA… Expand
Is this relevant?