Skip to search formSkip to main contentSkip to account menu

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.
2019
2019
  • J. Finsterer
  • Molecular genetics and metabolism reports
  • 2019
  • Corpus ID: 208033237
Review
2018
Review
2018
Diagnosing primary mitochondrial diseases is challenging in clinical practice. Although, defective oxidative phosphorylation… 
2018
2018
YARS2 variants have previously been described in patients with myopathy, lactic acidosis and sideroblastic anemia 2 (MLASA2… 
2016
2016
Mitochondrial myopathy with lactic acidosis and sideroblastic anemia (MLASA) is an oxidative phosphorylation disorder, with… 
2015
2015
Myopathy-lactic acidosis-sideroblastic anemia (MLASA) syndrome is a rare autosomal recessive disease. We studied a 43-year-old… 
Review
2015
Review
2015
YARS2 encodes the mitochondrial tyrosyl-tRNA synthetase that catalyzes the covalent binding of tyrosine to its cognate mt-tRNA… 
2013
2013
Nuclear‐encoded disorders of mitochondrial translation are clinically and genetically heterogeneous. Genetic causes include… 
Highly Cited
2012
Highly Cited
2012
Mutations in the mitochondrial aminoacyl‐tRNA synthetases (ARSs) are associated with a strikingly broad range of clinical… 
2007
2007
هديكچ كيتكلا زوديسا و كيتسلابورديس يمنآ ،لايردنكوتيم يتاپويم مردنس ) MLASA…