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Quoted phrase not found in phrase index: "Mitochondrial myopathy-lactic acidosis-deafness syndrome"
Page 1
Sideroblastic anemia associated with multisystem mitochondrial disorders.
Tesarova M, Vondrackova A, Stufkova H, Veprekova L, Stranecky V, Berankova K, Hansikova H, Magner M, Galoova N, Honzik T, Vodickova E, Stary J, Zeman J. Tesarova M, et al. Pediatr Blood Cancer. 2019 Apr;66(4):e27591. doi: 10.1002/pbc.27591. Epub 2018 Dec 26. Pediatr Blood Cancer. 2019. PMID: 30588737
Two of the children had a fatal course of MLASA1 syndrome (mitochondrial myopathy, lactic acidosis, and sideroblastic anemia [SA]) due to a homozygous, 6-kb deletion in the PUS1 gene, part of the six-member family of pseudouridine synthases (pse …
Two of the children had a fatal course of MLASA1 syndrome (mitochondrial myopathy, lactic acidosis, and s …
Hematological manifestations of primary mitochondrial disorders.
Finsterer J. Finsterer J. Acta Haematol. 2007;118(2):88-98. doi: 10.1159/000105676. Epub 2007 Jul 18. Acta Haematol. 2007. PMID: 17637511 Review.
At onset mitochondrial disorders (MID) frequently manifest as a mono-organic problem but turn into multisystem disease during the disease course in most of the cases. ...In single cases either permanent or recurrent eosinophilia has been observed. Hematological abno …
At onset mitochondrial disorders (MID) frequently manifest as a mono-organic problem but turn into multisystem disease during the dis …
In vivo functional brain imaging and a therapeutic trial of L-arginine in MELAS patients.
Yoneda M, Ikawa M, Arakawa K, Kudo T, Kimura H, Fujibayashi Y, Okazawa H. Yoneda M, et al. Biochim Biophys Acta. 2012 May;1820(5):615-8. doi: 10.1016/j.bbagen.2011.04.018. Epub 2011 May 8. Biochim Biophys Acta. 2012. PMID: 21600268 Review.
BACKGROUND: Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS) is the most common type of mitochondrial disease and is characterized by stroke-like episodes (SEs), myopathy, lactic acidosis, diabetes mellitus, hear …
BACKGROUND: Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS) is the most common type of mi …
Nonsense mutation in pseudouridylate synthase 1 (PUS1) in two brothers affected by myopathy, lactic acidosis and sideroblastic anaemia (MLASA).
Fernandez-Vizarra E, Berardinelli A, Valente L, Tiranti V, Zeviani M. Fernandez-Vizarra E, et al. J Med Genet. 2007 Mar;44(3):173-80. doi: 10.1136/jmg.2006.045252. Epub 2006 Oct 20. J Med Genet. 2007. PMID: 17056637 Free PMC article.
INTRODUCTION: Myopathy, lactic acidosis and sideroblastic anaemia (MLASA) is a rare condition that combines early-onset myopathy with lactic acidosis and sideroblastic anaemia. ...The six exons of the PUS1 gene were analysed by automated sequencing. RESULTS: We foun …
INTRODUCTION: Myopathy, lactic acidosis and sideroblastic anaemia (MLASA) is a rare condition that combines early-onset myopat …