A Case Report of Inflammatory Myopathy and Sideroblastic Anemia
Majallah-i Dānishgāh-i ’Ulūm-i Pizishkī-i Shahīd Ṣadūqī Yazd, 2007 Mitochondrial myopathy, lactic acidosis, and siderobastic anemia (MLA SA) syndrome is one of the newly reported mitochondrial diseases, seven cases of which have been reported. We report a child with inflammatory myopathy, sideroblastic anemia and lactic
F Binesh, M Mortazavi Zadeh, R Fallah
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Suicide inhibition of alpha-oxamine synthases:structures of the covalent adducts of 8-amino-7-oxononanoate synthase with trifluoroalanine [PDF]
, 2006 The suicide inhibition of the α-oxamine synthases by the substrate analog, L-trifluoroalanine was investigated. The inhibition resulted in the formation of a complex with loss of all three fluorine atoms.
Abboud +45 more
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Endothelial dysfunction in a child with Pearson marrow-pancreas syndrome managed with Descemet stripping automated endothelial keratoplasty using a suture pull-through techniqu [PDF]
, 2019 A 4-year-old girl with a history of Pearson marrow-pancreas syndrome presenting with severe, progressive photophobia was found to have bilateral, diffuse corneal thickening and peripheral pigmentary retinopathy. She underwent Descemet stripping automated
Areaux, Raymond G., Jr. +4 more
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A 9-year-old child presenting with anemia accompanied by abnormal red blood cell morphology
Practical Laboratory MedicineCases of anemia presenting with abnormal erythrocyte morphology often pose diagnostic challenges, particularly in patients with refractory anemia. Here, we present the case of a 9-year-old male patient under investigation for anemia, who had a history of
Huijun Qin, Yuan He, Zaixiang Xie
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Neurological Manifestations in Primary Immunodeficiencies [PDF]
, 2016 As imunodeficiências primárias são um grupo heterogéneo de doenças individualmente raras. A sua associação a manifestações neurológicas não é rara, sendo os mecanismos fisiopatológicos implicados distintos consoante a patologia em causa. As manifestações
Conde, M +5 more
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Three‐generation female cohort with macrocytic anemia and iron overload
American Journal of Hematology, Volume 100, Issue 1, Page 133-138, January 2025.
Alexander A. Boucher +5 more
wiley +1 more source
La Traducció genètica mitocondrial i malalties associades [PDF]
, 2013 En humans, com en la majoria d'organismes eucariotes, la síntesi proteica té lloc simultàniament al citoplasma i en orgànuls que posseeixen un genoma propi.
Guitart, Tanit +1 more
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Early neurological impairment and severe anemia in a newborn with Pearson syndrome [PDF]
, 2018 Background: Pearson marrow-pancreas syndrome (PS) is usually a fatal mitochondrial disease, mostly diagnosed during infancy or postmortem. PS is caused by the deletions or duplications of mitochondrial DNA (mtDNA).
Ballhausen, Diana +7 more
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, 2010 A 46 year old white male was admitted from the emergency department with severe pain in his legs, feet and hands, which began two days prior to admission.
Lancey, Robert, Smitherman, Sarah
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