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
Clinical complications of G6PD deficiency in Latin American and Caribbean populations : systematic review and implications for malaria elimination programmes [PDF]
, 2014 Background: Although G6PDd individuals are generally asymptomatic throughout their life, the clinical burden of this genetic condition includes a range of haematological conditions, including acute haemolytic anaemia (AHA), neonatal jaundice (NNJ) and ...
Bassat, Quique +9 more
core +2 more sources
Journal of Infection in Developing Countries, 2015 Introduction: Glucose-6-phosphate dehydrogenase deficiency (G6PD) is an X-linked genetic disorder with a relatively high frequency in malaria-endemic regions.
Seyed Mehdi Tabatabaei +4 more
doaj +1 more source
Deficiência de glicose-6-fosfato desidrogenase eritrocitária em recém-nascidos do sexo masculino e sua relação com a icterícia neonatal [PDF]
, 2010 Glucose-6-phosphate dehydrogenase (G6PD) deficiency, the commonest red cell enzymopathy in humans, has an X-linked inheritance. The major clinical manifestations are drug induced hemolytic anemia, neonatal jaundice and chronic nonspherocytic hemolytic ...
AMORIM, Maria do Socorro T. +6 more
core +1 more source
Revista Brasileira de Hematologia e Hemoterapia, 2010 Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most common human enzymopathy. It affects as many as 330 million individuals worldwide.
Ulysses Madureira Maia +3 more
doaj +1 more source
The return of metabolism: biochemistry and physiology of the pentose phosphate pathway. [PDF]
, 2014 The pentose phosphate pathway (PPP) is a fundamental component of cellular metabolism. The PPP is important to maintain carbon homoeostasis, to provide precursors for nucleotide and amino acid biosynthesis, to provide reducing molecules for anabolism ...
Breitenbach, Michael +14 more
core +5 more sources
Asian Journal of Medical Sciences, 2018 Background: Glucose-6-phosphate dehydrogenase (G6PD) deficiency is an inherited X-linked recessive condition in which the body does not synthesise a sufficient quantity of the G6PD enzyme.
Ahmed Al-Imam
doaj +1 more source
Glucose-6-phosphate dehydrogenase deficiency near-patient tests for tafenoquine or primaquine use with Plasmodium vivax malaria [PDF]
, 2021 Objectives This is a protocol for a Cochrane Review (diagnostic). The objectives are as follows: To assess the diagnostic accuracy of near‐patient tests for G6PD deficiency in people undergoing treatment or prophylaxis with primaquine or tafenoquine ...
Bancone, Germana +5 more
core +4 more sources