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Decompensation of cardiorespiratory function and emergence of anemia during pregnancy in a case of mitochondrial myopathy, lactic acidosis, and sideroblastic anemia 2 with compound heterozygous YARS2 pathogenic variants.
Rudaks LI, Watson E, Oboudiyat C, Kumar KR, Sullivan P, Cowley MJ, Davis RL, Sue CM. Rudaks LI, et al. Am J Med Genet A. 2022 Jul;188(7):2226-2230. doi: 10.1002/ajmg.a.62755. Epub 2022 Apr 8. Am J Med Genet A. 2022. PMID: 35393742 Free PMC article.
Myopathy, lactic acidosis, and sideroblastic anemia 2 (MLASA2) is an autosomal recessive mitochondrial disorder caused by pathogenic variants in YARS2. ...
Myopathy, lactic acidosis, and sideroblastic anemia 2 (MLASA2) is an autosomal recessive mitochondrial disorder caused …
Bone marrow biopsy findings in childhood anemia: prevalence of transient erythroblastopenia of childhood.
Farhi DC, Luebbers EL, Rosenthal NS. Farhi DC, et al. Arch Pathol Lab Med. 1998 Jul;122(7):638-41. Arch Pathol Lab Med. 1998. PMID: 9674545
Final diagnoses were transient erythroblastopenia of childhood (15 cases, 60%); iron deficiency and sideroblastic anemia (2 cases each); and congenital dyserythropoietic anemia, anemia of chronic disease, hereditary spherocytosis, and intra-abdominal hemorrha …
Final diagnoses were transient erythroblastopenia of childhood (15 cases, 60%); iron deficiency and sideroblastic anemia (2 …