Confounding factors in the diagnosis and clinical course of rare congenital hemolytic anemias [PDF]
Orphanet Journal of Rare Diseases, 2021 Congenital hemolytic anemias (CHAs) comprise defects of the erythrocyte membrane proteins and of red blood cell enzymes metabolism, along with alterations of erythropoiesis.
Bruno Fattizzo +3 more
doaj +2 more sources
Deficiência da glicose-6-fosfato desidrogenase com infecções de repetição: relato de caso Glucose-6-phosphate dehydrogenase deficiency with recurrent infections: case report [PDF]
Jornal de Pediatria, 2001 OBJETIVO: relatar a ocorrência de uma deficiência funcional de neutrófilos rara, com quadro clínico e laboratorial semelhante ao da doença granulomatosa crônica.
Abertina Rosa-Borges +9 more
doaj +7 more sources
Glucose-6-phosphate Dehydrogenase Deficiency: A Review [PDF]
International Journal of Medical Students, 2020 Deficiency of glucose-6-phosphate dehydrogenase enzyme is a common X-linked disorder that affects humans globally. It was first identified in the 1950s as a disorder that primarily affects the red blood cells causing a myriad of symptoms including acute
Nidhruv Ravikumar, Graeme Greenfield
doaj +3 more sources
Investigação genético-epidemiológica e molecular da deficiência de G-6-PD em uma comunidade brasileira G-6-PD deficiency in a Brazilian community: an investigation involving epidemiological genetics and molecular techniques [PDF]
Cadernos de Saúde Pública, 2000 Este trabalho teve por objetivo estudar a deficiência de G-6-PD em uma comunidade do interior do Estado de São Paulo (Bragança Paulista). Durante 36 meses foram selecionados 4.621 doadores de sangue do sexo masculino, detectando-se 80 deficientes em G-6 ...
Mariane B. Compri +2 more
doaj +3 more sources
Glucose-6-phosphate dehydrogenase deficiency as a cause for nonimmune hydrops fetalis and severe fetal anemia: A systematic review. [PDF]
Mol Genet Genomic MedBACKGROUND: Glucose-6-phosphate dehydrogenase (G6PD) deficiency is an X-linked recessive disorder that predisposes individuals to hemolysis due to an inborn error of metabolism. We performed a systematic literature review to evaluate G6PD deficiency as a
Iyer NS +6 more
europepmc +3 more sources
Scrub Typhus Infection Precipitating Hemolysis in a Patient With G6PD Deficiency: A Case Report [PDF]
Clinical Case ReportsGlucose‐6‐phosphate dehydrogenase (G6PD) deficiency is a well‐known red blood cell enzymopathy and a cause of intravascular hemolysis. This case report presents a child with underlying G6PD deficiency who experienced an acute episode of extensive ...
Ravi Shukla +5 more
doaj +2 more sources
Molecular Characterization of Glucose-6-phosphate Dehydrogenase Deficiency in Oman
Oman Medical Journal, 2023 Objectives: Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most encountered abnormality of red blood cell metabolism worldwide and has a high prevalence in Oman.
Ammar Al-Sheryani1, +5 more
doaj +1 more source
Dental Management of a Patient with Pulmonary Atresia and Ventricular Septal Defect
Frontiers in Dentistry, 2021 Pulmonary atresia with ventricular septal defect (PA/VSD) is one of the congenital heart diseases that results in cyanosis, susceptibility to bacterial endocarditis, and increased risk of complications during general anesthesia.
Ghassem Ansari +2 more
doaj +1 more source
Frontiers in Genetics, 2023 Background: Glucose-6-phosphate dehydrogenase (G6PD) deficiency is an X-linked hereditary disorder and a global public health concern that is most prevalent in malaria-endemic regions including Asia, Africa, and the Mediterranean.
Mohamed Afiq Hidayat Zailani +6 more
doaj +1 more source
Neonatal indirect hyperbilirubinemia and glucose-6-phosphate dehydrogenase deficiency [PDF]
Korean Journal of Pediatrics, 2017 PurposeThis study aimed to determine the prevalence of glucose-6-phosphate dehydrogenase (G6PD) deficiency among infants with neonatal indirect hyperbilirubinemia (NIH); compare G6PD-deficient and G6PD-normal patients regarding hyperbilirubinemia and ...
Hasan M. Isa +4 more
doaj +1 more source