Chronic hemolytic anemia is associated with a new glucose-6-phosphate dehydrogenase in-frame deletion in an older woman [PDF]
, 2010 Glucose-6-phosphate dehydrogenase (G6PD) deficiency, an X-linked disorder, is usually observed in hemizygote males and very rarely in females. The G6PD class 1 variants, very uncommon, are associated with chronic hemolytic anemia.
Bento, C +6 more
core
Anemia na doença inflamatória intestinal: prevalência, diagnóstico diferencial e associação com variáveis clínicas e laboratoriais [PDF]
, 2014 CONTEXT AND OBJECTIVES:Anemia is the most frequent extraintestinal complication of inflammatory bowel disease. This study aimed to: 1) determine the prevalence of anemia among patients with inflammatory bowel disease; 2) investigate whether routine ...
Alves, Rodrigo Andrade +2 more
core +1 more source
Exploring Monogenic, Polygenic, and Epigenetic Models of Common Variable Immunodeficiency
Human Mutation, Volume 2025, Issue 1, 2025.Common variable immunodeficiency (CVID) is the most frequent symptomatic inborn error of immunity (IEI). CVID is genetically heterogeneous and occurs in sporadic or familial forms with different inheritance patterns. Monogenic mutations have been found in a low percentage of patients, and multifactorial or polygenic inheritance may be involved in ...
Tayebeh Ranjbarnejad +7 more
wiley +1 more source
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
doaj
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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Compound heterozygous mutations in glycyl-tRNA synthetase are a proposed cause of systemic mitochondrial disease [PDF]
, 2014 Background Glycyl-tRNA synthetase (GARS) is an aminoacyl-tRNA synthetase (ARS) that links the amino acid glycine to its corresponding tRNA prior to protein translation and is one of three bifunctional ARS that are active within ...
Amanda Smith +9 more
core +1 more source
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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Trace Element Status (Iron, Zinc, Copper, Chromium, Cobalt, and Nickel) in Iron-Deficiency Anaemia of Children under 3 Years [PDF]
, 2014 Мета. Визначити вміст мікроелементів і етіологічні фактори розвитку мікроелементного дефіциту у дітей із залізодефіцитною анемією (ЗДА) у віці від 0 до 3 років. Матеріали і методи. Були обстежені 30 пацієнтів університетської лікарні, м.Плевен, Болгарія -
Angelova, Maria Georgieva +15 more
core +1 more source
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
core +3 more sources
Evaluating quality of life tools in North American patients with erythropoietic protoporphyria and X-linked protoporphyria. [PDF]
, 2019 BackgroundErythropoietic protoporphyria (EPP) and X-linked Protoporphyria (XLP) are rare photodermatoses presenting with severe phototoxicity. Although anecdotally, providers who treat EPP patients acknowledge their life-altering effects, tools that ...
Anderson, Karl E +10 more
core +1 more source