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
core
Significance of Continuous Medical Education of General Practitioners about Common Diseases – Iron Deficiency Anemia [PDF]
, 2009 Three years long, prospective study was performed in order to evaluate a possible influence of continuing medical education of general practitioners on managing the patients with common diseases such as iron deficiency anemia (IDA).
Antica Duletić-Načinović +4 more
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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
core
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
doaj +1 more source
Sideroblastic anemia: functional study of two novel missense mutations in
, 2016 Manuel Méndez +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
Multiple Enzymatic Defects in Mitochondria in Hematological Cells of Patients with Primary Sideroblastic Anemia [PDF]
, 1980 Yosuke Aoki
openalex +1 more source
, 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
core
A novel homozygous YARS2 mutation causes severe myopathy, lactic acidosis, and sideroblastic anemia 2 [PDF]
, 2014 Junya Nakajima +8 more
openalex +1 more source
Mutation of the Mitochondrial Tyrosyl-tRNA Synthetase Gene, YARS2, Causes Myopathy, Lactic Acidosis, and Sideroblastic Anemia—MLASA Syndrome [PDF]
, 2010 Lisa G. Riley +11 more
openalex +1 more source