Results 181 to 190 of about 7,778 (203)

Incorporating G6PD genotyping to identify patients with G6PD deficiency

Pharmacogenetics and Genomics, 2021
Glucose-6-phosphate-dehydrogenase (G6PD) deficiency is a common X-linked enzyme disorder associated with hemolytic anemia after exposure to fava beans or certain medications. Activity testing is the gold standard for detecting G6PD deficiency; however, this test is affected by various hematologic parameters.
Sarah A, Morris, Kristine R, Crews, Randall T, Hayden, Clifford M, Takemoto, Wenjian, Yang, Donald K, Baker, Ulrich, Broeckel, Mary V, Relling, Cyrine E, Haidar   +8 more
openaire   +2 more sources

Molecular characterization of G6PD deficiency in Southern Italy: heterogeneity, correlation genotype–phenotype and description of a new variant (G6PD Neapolis)

British Journal of Haematology, 1997
We report on the molecular basis of glucose‐6‐phosphate dehydrogenase (G6PD) deficiency in Southern Italy (Campania region). Thirty‐one unrelated G6PD‐ deficient males were analysed at DNA level for the presence of G6PD gene mutations. Nine different G6PD variants were identified, eight of which have already been described (Mediterranean, Seattle, two ...
Amelia Cimmino, Maria Vittoria Cubellis, Stefania Filosa   +2 more
exaly   +8 more sources

G6PD deficiency: the genotype-phenotype association

Blood Reviews, 2007
Deficiency of glucose-6-phosphate dehydrogenase is a very common X-linked genetic disorder though most deficient people are asymptomatic. A number of different G6PD variants have reached polymorphic frequencies in different parts of the world due to the relative protection they confer against malaria infection.
Jose M Bautista
exaly   +3 more sources

G6PD Genotype and Its Associated Enzymatic Activity in a Chinese Population

Biochemical Genetics, 2011
Knowledge of the G6PD genotype and its associated enzyme activity is significant for population genetics, diagnosis of disease, and management of patients. We tested 2,872 unrelated subjects from a Hakka population in China for G6PD activity by the WHO standard method and for genotype by DHPLC and DNA sequencing.
Wei Ying, Jiang, Bing Yi, Zhou, Guo Long, Yu, Han, Liu, Jing Bo, Zeng, Qun Di, Lin, Hong Li, Xi, Hua, Liang   +7 more
exaly   +3 more sources

Clinical Pharmacogenetics Implementation Consortium (CPIC) Guidelines for Rasburicase Therapy in the Context of G6PD Deficiency Genotype

Clinical Pharmacology and Therapeutics, 2014
Glucose-6-phosphate dehydrogenase (G6PD) deficiency is associated with development of acute hemolytic anemia (AHA) induced by a number of drugs. We provide guidance as to which G6PD genotypes are associated with G6PD deficiency in males and females.
M V, Relling, E M, McDonagh, T, Chang, K E, Caudle, H L, McLeod, C E, Haidar, T, Klein, L, Luzzatto   +7 more
exaly   +4 more sources

Rapid genotyping of two common G6PD variants, African (A-) and Mediterranean, by high-resolution melting analysis

Clinical Biochemistry, 2010
The Mediterranean and A(-) G6PD variants are particularly prevalent in Africa and Southern Europe. Our study was aimed to develop an assay for the rapid genotyping of these two variants by HRM.After PCR reactions corresponding to the G6PD Mediterranean (exon 6), G6PD (A-) (exon 4) and G6PD (A-) (exon 5) mutations, amplicons were submitted to HRM.
Philippe Joly, Cyril Martin
exaly   +3 more sources

B-262 Evaluation of the Genotypic Profile of the c.202 G>A Mutation in the G6PD Gene in Brazil

Clinical Chemistry, 2023
Abstract Introduction Glucose 6 phosphate dehydrogenase (G6PD) is an enzyme found in the cytoplasm of all human cells and plays an important role in preventing cellular damage to reactive oxygen species (ROS).
J D Silva, J S Rios, D A Zauli
openaire   +1 more source

Genotyping of Malaysian G6PD-deficient neonates by reverse dot blot flow-through hybridisation

Journal of Human Genetics, 2019
G6PD deficiency is the commonest enzyme deficiency found in humans. Current diagnostic methods lack sensitivity to detect all cases of G6PD deficiency. We evaluated the reverse dot blot flow-through hybridisation assay designed to detect simultaneously multiple known G6PD mutations in a group of Malaysian neonates.
M F, Alina, R Z, Azma, J, Norunaluwar, I, Azlin, A J, Darnina, F C, Cheah, A R, Noor-Farisah, A A, Siti-Hawa, X R K, Danny, Noor-Fadzilah, Zulkifli, O, Ainoon   +10 more
openaire   +2 more sources

Corrigendum to “G6PD deficiency: The genotype-phenotype association” [Blood Rev. 21 (2007) 267–283]

Blood Reviews, 2010
Philip J. Mason, José M. Bautista, Florinda Gilsanz   +2 more
exaly   +2 more sources