Results 91 to 100 of about 6,166 (240)

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, Crisóstomo, AI, Manco, L, Pereira, J, Rebelo, U, Relvas, L, Ribeiro, ML   +6 more
core  

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, Alexeev, Astner, Berman, Clausen, Dawkins, Dmitriy Alexeev, Dominic J. Campopiano, Edgar, Eisenberg, Eliot, Faraci, Fearon, Ferreira, Gable, Grishin, Gukulan, Hanada, Hunter, Hunter, Ikushiro, Jones, Keller, Kerbarh, Kraulis, Lindsay Sawyer, Nicholas Tomczyk, Olivier Kerbarh, Otwinowski, Ploux, Ploux, Ploux, Rendina, Robert. L. Baxter, Rory Watt, Schmidt, Scott P. Webster, Sheldrick, Shoolingin-Jordan, Silverman, Silverman, Wang, Wang, Webster, Zamam, Zhang   +45 more
core   +1 more source

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, Figueiredo, Maria Stella, Miszputen, Sender Jankiel   +2 more
core   +1 more source

Clinical and Morphological Bone Marrow Characteristics of Pearson Syndrome: About Three Consecutive Cases and Review of the Literature

Case Reports in Pediatrics, Volume 2025, Issue 1, 2025.
Pearson syndrome (PS) is a rare and fatal multisystem disorder caused by a mitochondrial DNA (mtDNA) deletion. Most patients develop refractory anemia in early infancy, rapidly followed by multiple complications such as failure to thrive, muscle hypotonia, pancreatic insufficiency, and renal tubulopathy. Although the definitive diagnosis is established
Gaetan-Nagim Degroot, Aurélie Empain, Laurence Dedeken, Anne Demulder, Laurence Rozen, Anselm Chi-wai Lee   +5 more
wiley   +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, Hassan Abolhassani, Roya Sherkat, Mansoor Salehi, Fatemeh Ranjbarnejad, Nasimeh Vatandoost, Mohammadreza Sharifi, Aziz ur Rehman Aziz   +7 more
wiley   +1 more source

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, Bonafé, Luisa, Fattet, Sarah, Jacquemont, Sébastien, Joris, Nadia, Meuli, Reto, Morel, Anne-Sophie, Tolsa, Jean-François   +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, Chandree L Beaulieu, Dennis E Bulman, Hugh J McMillan, Jacek Majewski, Jeremy Schwartzentruber, Kym M Boycott, Michael T Geraghty, Pranesh Chakraborty, Suzie Lee   +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, Cordeiro, AI, Farela Neves, J, Lopes Silva, R, Neves, C, Oliveira, M   +5 more
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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, Badema Jelovčić-Barbić, Biserka Trošelj-Vukić, Duška Petranović, Tanja Batinac   +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, Balwani, Manisha, Bissell, D Montgomery, Bloomer, Joseph, Bonkovsky, Herbert L, Desnick, Robert J, Naik, Hetanshi, Overbey, Jessica R, Phillips, John D, Singal, Ashwani, Wang, Bruce   +10 more
core   +1 more source