scholarly journals LARS2 Variants Associated with Hydrops, Lactic Acidosis, Sideroblastic Anemia, and Multisystem Failure

2015 ◽  
pp. 49-57 ◽  
Author(s):  
Lisa G. Riley ◽  
Joëlle Rudinger-Thirion ◽  
Klaus Schmitz-Abe ◽  
David R. Thorburn ◽  
Ryan L. Davis ◽  
...  
Keyword(s):  
Lactic Acidosis ◽  
Sideroblastic Anemia

scholarly journals A novel mutation in NDUFB11 unveils a new clinical phenotype associated with lactic acidosis and sideroblastic anemia

2016 ◽  
Vol 91 (3) ◽  
pp. 441-447 ◽  
Author(s):  
A. Torraco ◽  
M. Bianchi ◽  
D. Verrigni ◽  
V. Gelmetti ◽  
L. Riley ◽  
...  
Keyword(s):  
Lactic Acidosis ◽  
Clinical Phenotype ◽  
Novel Mutation ◽  
Sideroblastic Anemia

scholarly journals A Myopathy, Lactic Acidosis, Sideroblastic Anemia (Mlasa) Case Due to A Novel Pus1 Mutation

2017 ◽  
Author(s):  
Çiğdem Seher Kasapkara ◽  
Leyla Tümer ◽  
Nadia Zanetti ◽  
Fatih Ezgü ◽  
Eleonora Lamantea ◽  
...  
Keyword(s):  
Lactic Acidosis ◽  
Sideroblastic Anemia

A novel homozygous YARS2 mutation causes severe myopathy, lactic acidosis, and sideroblastic anemia 2

2014 ◽  
Vol 59 (4) ◽  
pp. 229-232 ◽  
Author(s):  
Junya Nakajima ◽  
Tuba F Eminoglu ◽  
Goksel Vatansever ◽  
Mitsuko Nakashima ◽  
Yoshinori Tsurusaki ◽  
...  
Keyword(s):  
Lactic Acidosis ◽  
Sideroblastic Anemia

scholarly journals Mutation of the Mitochondrial Tyrosyl-tRNA Synthetase Gene, YARS2, Causes Myopathy, Lactic Acidosis, and Sideroblastic Anemia—MLASA Syndrome

2010 ◽  
Vol 87 (1) ◽  
pp. 52-59 ◽  
Author(s):  
Lisa G. Riley ◽  
Sandra Cooper ◽  
Peter Hickey ◽  
Joëlle Rudinger-Thirion ◽  
Matthew McKenzie ◽  
...  
Keyword(s):  
Lactic Acidosis ◽  
Trna Synthetase ◽  
Sideroblastic Anemia

scholarly journals The phenotypic spectrum of germline YARS2 variants: from isolated sideroblastic anemia to mitochondrial myopathy, lactic acidosis and sideroblastic anemia 2

Haematologica ◽  
2018 ◽  
Vol 103 (12) ◽  
pp. 2008-2015 ◽  
Author(s):  
Lisa G. Riley ◽  
Matthew M. Heeney ◽  
Joëlle Rudinger-Thirion ◽  
Magali Frugier ◽  
Dean R. Campagna ◽  
...  
Keyword(s):  
Lactic Acidosis ◽  
Mitochondrial Myopathy ◽  
Sideroblastic Anemia ◽  
Phenotypic Spectrum

A YARS2 mutation is a novel cause of mitochondrial myopathy lactic acidosis and sideroblastic anemia (MLASA) syndrome

Mitochondrion ◽  
2011 ◽  
Vol 11 (4) ◽  
pp. 670-671
Author(s):  
Lisa Riley ◽  
Sandra Cooper ◽  
Peter Hickey ◽  
Joëlle Rudinger-Thirion ◽  
Matthew McKenzie ◽  
...  
Keyword(s):  
Lactic Acidosis ◽  
Mitochondrial Myopathy ◽  
Sideroblastic Anemia

A novel mutation in YARS2 causes myopathy with lactic acidosis and sideroblastic anemia

2012 ◽  
Vol 33 (8) ◽  
pp. 1201-1206 ◽  
Author(s):  
Florin Sasarman ◽  
Tamiko Nishimura ◽  
Isabelle Thiffault ◽  
Eric A. Shoubridge
Keyword(s):  
Lactic Acidosis ◽  
Novel Mutation ◽  
Sideroblastic Anemia

Myopathy, lactic acidosis, and sideroblastic anemia: A new syndrome

1995 ◽  
Vol 55 (3) ◽  
pp. 372-378 ◽  
Author(s):  
Aida Inbal ◽  
Nelly Avissar ◽  
Mati Shaklai ◽  
Arieh Kuritzky ◽  
Abel Schejter ◽  
...  
Keyword(s):  
Lactic Acidosis ◽  
Sideroblastic Anemia
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