6,340 results match your criteria Glucose-6-Phosphate Dehydrogenase Deficiency


Identification of a Novel Hb H Disease with Glucose-6-Phosphate Dehydrogenase Deficiency Using Whole Genome Sequencing.

Hemoglobin 2022 May 17:1-4. Epub 2022 May 17.

Department of Laboratory Medicine, Shenzhen Children's Hospital, Shenzhen, Guangdong Province, People's Republic of China.

With the development of sequencing technology, more and more rare thalassemia types have been found. In this article, we found a novel Hb H disease combined with glucose-6-phosphate dehydrogenase (G6PD) deficiency through whole genome sequencing (WGS), which was verified by Sanger sequencing and polymerase chain reaction (PCR)-reverse dot-blot hybridization, respectively. Read More

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High Frequency of Glucose-6-Phosphate Dehydrogenase Deficiency in Patients Diagnosed with Celiac Disease.

Nutrients 2022 Apr 26;14(9). Epub 2022 Apr 26.

Dipartimento di Medicina, Chirurgia e Farmacia, University of Sassari, Viale San Pietro 8, 07100 Sassari, Italy.

Celiac disease (CD) is characterized by a proinflammatory state associated with the production of reactive oxygen species, i.e., a condition of oxidative stress. Read More

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Recurrent chronic suppurative osteomyelitis in the maxilla of a patient with diabetes mellitus and glucose-6-phosphate dehydrogenase deficiency.

Spec Care Dentist 2022 May 13. Epub 2022 May 13.

Department of Oral Pathology and Diagnosis, School of Dentistry, Federal University of Rio de Janeiro, Rio de Janeiro, Brazil.

Aims: To report the case of chronic osteomyelitis of a maxilla in a woman with uncontrolled diabetes mellitus (DM), glucose-6-phosphate dehydrogenase (G6PD) deficiency and mental illness, in an attempt to clarify its pathogenesis and treatment.

Methods And Results: A case of a woman with moderate G6PD deficiency (Class III) who developed bilateral and asynchronous chronic suppurative osteomyelitis (CSO) of her maxilla with extensive bone sequestra, fistulae and whose management was performed by local surgery for bony sequestra and fistulae removal; closure communication under 4 weeks antibiotic cover.

Conclusions: CSO of the jaw may be a complication of the G6PD deficiency and DM and its severity depends on patient's medical status. Read More

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Variation in Glucose-6-Phosphate Dehydrogenase activity following acute malaria.

PLoS Negl Trop Dis 2022 05 11;16(5):e0010406. Epub 2022 May 11.

Global and Tropical Health Division, Menzies School of Health Research and Charles Darwin University, Darwin, Australia.

Primaquine and tafenoquine are the only licensed drugs with activity against Plasmodium vivax hypnozoites but cause haemolysis in patients with glucose-6-phosphate dehydrogenase (G6PD) deficiency. Malaria also causes haemolysis, leading to the replacement of older erythrocytes with low G6PD activity by reticulocytes and young erythrocytes with higher activity. Aim of this study was to assess the impact of acute malaria on G6PD activity. Read More

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Nitrofurantoin and glucose-6-phosphate dehydrogenase deficiency: a safety review.

JAC Antimicrob Resist 2022 Jun 3;4(3):dlac045. Epub 2022 May 3.

Lao-Oxford-Mahosot Hospital-Wellcome Trust Research Unit (LOMWRU), Microbiology Laboratory, Mahosot Hospital, Vientiane, Lao PDR.

Nitrofurantoin, a broad-spectrum antibiotic available since 1953, is used widely for the treatment of urinary tract infections as it often retains activity against drug-resistant uropathogens. It is contraindicated in pregnant women at term, and in neonates. Like trimethoprim/sulfamethoxazole, nitrofurantoin carries a warning for patients with known sensitivity to oxidant drugs, notably glucose-6-phosphate dehydrogenase (G6PD) deficiency, in whom it may cause haemolytic anaemia. Read More

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Duffy blood system and G6PD genetic variants in vivax malaria patients from Manaus, Amazonas, Brazil.

Malar J 2022 May 8;21(1):144. Epub 2022 May 8.

Universidade Do Estado Do Amazonas-Fundação Hospitalar de Hematologia E Hemoterapia Do Amazonas, Manaus, Amazonas, Brazil.

Background: Over a third of the world's population is at risk of Plasmodium vivax-induced malaria. The unique aspect of the parasite's biology and interactions with the human host make it harder to control and eliminate the disease. Glucose-6-phosphate dehydrogenase (G6PD) deficiency and Duffy-negative blood groups are two red blood cell (RBC) variations that can confer protection against malaria. Read More

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Normal saline, the known but least-examined fluid therapy method for preventing heme-induced nephropathy in children with glucose 6 phosphate dehydrogenase deficiency: a randomized controlled clinical trial.

Pediatr Nephrol 2022 May 4. Epub 2022 May 4.

Pediatric Diseases Research Center, Guilan University of Medical Sciences, Rasht, Iran.

Background: Glucose 6 phosphate dehydrogenase deficiency (G6PDd) is the most common enzyme deficiency in humans. Randomized clinical trials comparing the efficacy of different types of fluid therapy for prevention of acute kidney injury (AKI) following hemolysis in patients with G6PDd are lacking. The present study aimed to compare the efficacy of three different types of fluid administration, isotonic saline with or without acetazolamide versus bicarbonate solution in prevention of AKI among children with acute hemolysis due to G6PDd. Read More

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Massively parallel sequencing uncovered disease-associated variant spectra of glucose-6-phosphate dehydrogenase deficiency, phenylketonuria and galactosemia in Vietnamese pregnant women.

Mol Genet Genomic Med 2022 May 3:e1959. Epub 2022 May 3.

R&D Department, Gene Solutions, Ho Chi Minh City, Vietnam.

Background: Several inherited metabolic diseases are underreported in Vietnam, namely glucose-6-phosphate dehydrogenase deficiency (G6PDd), phenylketonuria (PKU) and galactosemia (GAL). Whilst massively parallel sequencing (MPS) allows researchers to screen several loci simultaneously for pathogenic variants, no screening programme uses MPS to uncover the variant spectra of these diseases in the Vietnamese population.

Methods: Pregnant women (mean age of 32) from across Vietnam attending routine prenatal health checks agreed to participate and had their blood drawn. Read More

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Cost-effectiveness analysis of G6PD diagnostic test for Plasmodium vivax radical cure in Lao PDR: An economic modelling study.

PLoS One 2022 25;17(4):e0267193. Epub 2022 Apr 25.

Department of Health Policy, London School of Economics and Political Science, London, United Kingdom.

Background: Plasmodium vivax (Pv) infections were 68% of the total malaria burden in Laos in 2019. The parasite causes frequent relapses, which can be prevented by primaquine (PMQ). Testing for glucose-6-phosphate-dehydrogenase (G6PD) deficiency is recommended before giving PMQ to avoid haemolysis. Read More

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Glucose-6-phosphate dehydrogenase deficiency screening and gene analysis in blood donors of Guangdong province.

Hematology 2022 Dec;27(1):494-498

Precision Medical Lab Center, People's Hospital of Yangjiang Affiliated to Guangdong Medical University, Yangjiang, People's Republic of China.

Objectives: The characteristic of glucose-6-phosphate dehydrogenase (G6PD) deficiency is red blood cell (RBC) destruction in response to oxidative stress. Patients requiring RBC transfusions may simultaneously receive oxidative medications or have concurrent infections, both of which can induce hemolysis in G6PD-deficient RBCs. We intend to investigate the incidence of G6PD deficiency in voluntary blood donors and to evaluate the transfusion risk associated with G6PD deficiency in Guangdong province. Read More

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December 2022

Differential Diagnosis of Rare Diseases Involving Bilateral Lower Extremities with Similar Tc-MDP Bone Scan Patterns: Analysis of a Case Series.

Diagnostics (Basel) 2022 Apr 6;12(4). Epub 2022 Apr 6.

Department of Nuclear Medicine, Shanghai Jiao Tong University Affiliated Sixth People's Hospital, Shanghai 200233, China.

Here, we reported a panel of rare diseases involving bilateral lower extremities with similar imaging patterns on 99mTc-MDP bone scans. Glucose-6-phosphate dehydrogenase deficiency (G-6PD deficiency), Gaucher disease (GD), steroid-induced osteonecrosis, progressive diaphyseal dysplasia (PDD), Erdheim-Chester disease (ECD) and Langerhans cell sarcoma (LCS) were included and imaging characteristics were analyzed. The rare properties of these diseases and mimicking features on 99mTc-MDP bone scans rendered differential diagnosis difficult but necessary. Read More

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Favism: A Case Report.

Cureus 2022 Mar 17;14(3):e23269. Epub 2022 Mar 17.

Internal Medicine Department, Unidade Local de Saúde do Nordeste, Bragança, PRT.

Favism is an acute hemolytic syndrome that occurs in patients with glucose-6-phosphate dehydrogenase (G6PD) deficiency following the ingestion of fava beans. Diagnosis can be challenging because the severity of hemolytic anemia varies among this patient population. Furthermore, the severity of hemolytic episodes can vary in the same patient. Read More

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Simultaneous presentation of glucose-6-phosphate dehydrogenase deficiency and idiopathic autoimmune hemolytic anemia.

Indian J Pathol Microbiol 2022 Apr-Jun;65(2):507-509

Department of Internal Medicine, Post Graduate Institute of Medical Education and Research, Chandigarh, India.

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Impact of pre-emptive rapid testing for glucose-6-phosphate dehydrogenase deficiency prior to rasburicase administration at a tertiary care centre: A retrospective study.

Br J Clin Pharmacol 2022 Apr 14. Epub 2022 Apr 14.

Department of Pathology & Cell Biology, Columbia University Irving Medical Center, New York, NY, USA.

Aims: Glucose-6-phosphate dehydrogenase (G6PD) deficiency, the most common enzymopathy in humans, can cause acute haemolysis resulting from exposure to certain medications, chemicals, infections and fava beans. Rasburicase, used to manage elevated uric acid levels in the oncologic emergency of tumour lysis syndrome, is one such drug. The US Food and Drug Administration (FDA) recommends testing of G6PD status prior to rasburicase administration for patients at higher risk for G6PD deficiency. Read More

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Diabetic Ketoacidosis Unmasking a Diagnosis of Glucose-6-Phosphate Dehydrogenase Deficiency: A Case Report and Literature Review.

Cureus 2022 Apr 5;14(4):e23842. Epub 2022 Apr 5.

Hematology and Oncology, New York Cancer and Blood Specialists, Port Jefferson, USA.

Glucose-6-phosphate dehydrogenase deficiency (G6PD) is the most common enzyme deficiency. Mode of inheritance is X-linked recessive with a high prevalence in endogamous marriages, such as Jehovah's Witness. Oxidative triggers such as infection, ingestion of certain medications, certain types of food, and in rare instances diabetic ketoacidosis (DKA) may unmask the diagnosis by triggering a hemolytic event. Read More

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Real-life quantitative G6PD screening in Plasmodium vivax patients in the Brazilian Amazon: A cost-effectiveness analysis.

PLoS Negl Trop Dis 2022 03 24;16(3):e0010325. Epub 2022 Mar 24.

Instituto de Pesquisa Clínica Carlos Borborema, Fundação de Medicina Tropical Dr Heitor Vieira Dourado, Manaus, Brazil.

Background: As quantitative glucose 6-phosphate dehydrogenase deficiency (G6PDd) screening tools are evaluated in operational studies, questions remain as to whether they are cost-effective. Here, a cost-effectiveness analysis (CEA) was performed to estimate the Incremental Cost-effectiveness Ratio (ICER) of the introduction of quantitative screening test to detect G6PDd among P. vivax carriers in two municipalities in the Brazilian Amazon. Read More

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Glucose-6-Phosphate dehydrogenase deficiency associated hemolysis in a cohort of new onset type 1 diabetes children in Guangdong province, China.

Diabetol Metab Syndr 2022 Mar 21;14(1):43. Epub 2022 Mar 21.

Department of Genetics and Endocrinology, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, 9 Jinsui Road, Guangzhou, 510623, China.

Background: Glucose-6-phosphate dehydrogenase (G6PD) deficiency is one of the most common human genetic abnormalities, with a high prevalence in Guangdong, China. The purpose of this study was to explore the characteristics of newly diagnosed type 1 diabetes (T1D) patients with G6PD deficiency in a cohort of Chinese children and to investigate the relationship between the diabetic ketoacidosis (DKA) and hemolysis due to G6PD deficiency in these patients.

Methods: A total of 503 newly diagnosed T1D children aged 6 months-18 years were collected and their G6PD enzyme activity were measured. Read More

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Hemolytic Anemia due to Glucose 6 Phosphate Dehydrogenase Deficiency Triggered by Type 1 Diabetes Mellitus.

J Clin Res Pediatr Endocrinol 2022 Mar 21. Epub 2022 Mar 21.

Department of Pediatric Endocrinology, Dr. Sami Ulus Obstetrics and Gynecology, Children's Health and Diseases Training and Research Hospital, Ankara, Turkey.

Glucose 6 phosphate dehydrogenase (G6PD) is expressed in all tissues and is necessary for the oxidant stress capacity of cells. G6PD deficiency is the most common enzymopathy in humans; it is among the important causes of hemolytic anemia. It has been reported that severe hemolytic anemia due to G6PD deficiency may develop in newly diagnosed diabetes, especially during the correction of hyperglycemia. Read More

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Glucose-6-phosphate dehydrogenase deficiency presenting with rhabdomyolysis in a patient with coronavirus disease 2019 pneumonia: a case report.

J Med Case Rep 2022 Mar 14;16(1):106. Epub 2022 Mar 14.

Division of Pediatric Critical Care, Department of Pediatrics, Harbor-UCLA Medical Center, 1000 W Carson St, Building N-25, Box 491, Torrance, CA, 90502, USA.

Background: Glucose-6-phosphate dehydrogenase deficiency is a rarely recognized predisposing factor for rhabdomyolysis. Rhabdomyolysis with coronavirus disease 2019 has been increasingly seen during the pandemic. We report the uncommon occurrence of coronavirus disease 2019 pneumonia, severe rhabdomyolysis, and acute renal failure in the setting of glucose-6-phosphate dehydrogenase deficiency. Read More

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An Optimized Dihydrodibenzothiazepine Lead Compound (SBI-0797750) as a Potent and Selective Inhibitor of Plasmodium falciparum and P. vivax Glucose 6-Phosphate Dehydrogenase 6-Phosphogluconolactonase.

Antimicrob Agents Chemother 2022 04 10;66(4):e0210921. Epub 2022 Mar 10.

Conrad Prebys Center for Chemical Genomics, Sanford Burnham Prebys Medical Discovery Institute, La Jolla, California, USA.

In , the first two and rate-limiting enzymes of the pentose phosphate pathway, glucose 6-phosphate dehydrogenase (G6PD) and the 6-phosphogluconolactonase, are bifunctionally fused to a unique enzyme named GluPho, differing structurally and mechanistically from the respective human orthologs. Consistent with the enzyme's essentiality for malaria parasite proliferation and propagation, human G6PD deficiency has immense impact on protection against severe malaria, making GluPho an attractive antimalarial drug target. Herein we report on the optimized lead compound -(((2R,4S)-1-cyclobutyl-4-hydroxypyrrolidin-2-yl)methyl)-6-fluoro-4-methyl-11-oxo-10,11-dihydrodibenzo[b,f][1,4]thiazepine-8-carboxamide (SBI-0797750), a potent and fully selective GluPho inhibitor with robust nanomolar activity against recombinant GluPho, G6PD, and P. Read More

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Prevalence of Glucose-6-Phosphate Dehydrogenase (G6PD) Deficiency among Malaria Patients in Southern Thailand: 8 Years Retrospective Study.

Korean J Parasitol 2022 Feb 23;60(1):15-23. Epub 2022 Feb 23.

Faculty of Medical Technology, Prince of Songkla University, Hat Yai, Songkhla 90110, Thailand.

Erythrocytes deficient in glucose-6-phosphate dehydrogenase (G6PD) is more susceptible to oxidative damage from free radical derived compounds. The hemolysis triggered by oxidative agents such as primaquine (PQ) is used for the radical treatment of hypnozoites of P. vivax. Read More

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February 2022

induced transient glucose-6-phosphate dehydrogenase deficiency with acute haemolysis.

BMJ Case Rep 2022 Mar 1;15(3). Epub 2022 Mar 1.

Emergency Medicine, Khon Kaen University, Khon Kaen, Thailand.

is a tropical herb found in Asia. The entire plant, especially the leaves, is used in herbal medicine for several therapeutic purposes. Acute intravascular haemolysis and methaemoglobinaemia have been reported in patients who consume this herb. Read More

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Glucose-6-Phosphate Dehydrogenase, Redox Homeostasis and Embryogenesis.

Int J Mol Sci 2022 Feb 11;23(4). Epub 2022 Feb 11.

Graduate Institute of Health Industry Technology, College of Human Ecology, Chang Gung University of Science and Technology, Taoyuan 33303, Taiwan.

Normal embryogenesis requires complex regulation and precision, which depends on multiple mechanistic details. Defective embryogenesis can occur by various mechanisms. Maintaining redox homeostasis is of importance during embryogenesis. Read More

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February 2022

A fluorometric assay to determine the protective effect of glucose-6-phosphate dehydrogenase (G6PD) against a Plasmodium spp. infection in females heterozygous for the G6PD gene: proof of concept in Plasmodium falciparum.

BMC Res Notes 2022 Feb 22;15(1):76. Epub 2022 Feb 22.

Global and Tropical Health Division, Menzies School of Health Research, Charles Darwin University, Casuarina, PO Box 41096, Darwin, NT, 0811, Australia.

Objective: Glucose-6-phosphate dehydrogenase (G6PD) deficiency offers some protection against malaria; however, the degree of protection is poorly described and likely to vary with G6PD genotype and Plasmodium species. We present a novel approach to quantify the differential invasion rates of P. falciparum between G6PD deficient and normal red blood cells (RBCs) in an ex vivo model. Read More

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February 2022

Repeatability and reproducibility of a handheld quantitative G6PD diagnostic.

PLoS Negl Trop Dis 2022 02 17;16(2):e0010174. Epub 2022 Feb 17.

FIND, Geneva, Switzerland.

Background: The introduction of novel short course treatment regimens for the radical cure of Plasmodium vivax requires reliable point-of-care diagnosis that can identify glucose-6-phosphate dehydrogenase (G6PD) deficient individuals. While deficient males can be identified using a qualitative diagnostic test, the genetic make-up of females requires a quantitative measurement. SD Biosensor (Republic of Korea) has developed a handheld quantitative G6PD diagnostic (STANDARD G6PD test), that has approximately 90% accuracy in field studies for identifying individuals with intermediate or severe deficiency. Read More

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February 2022

Glucose-6-Phosphate Dehydrogenase Deficiency: An Overview of the Prevalence and Genetic Variants in Saudi Arabia.

Authors:
Hassan A Hamali

Hemoglobin 2021 Sep 13;45(5):287-295. Epub 2022 Feb 13.

Department of Medical Laboratory Technology, Faculty of Applied Medical Sciences, Jazan University, Gizan, Saudi Arabia.

Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most common inherited metabolic abnormality of red blood cells (RBCs), affecting 400 million individuals worldwide. Patients with G6PD deficiency anemia might exhibit severe clinical manifestations, including acute hemolytic anemia (AHA), neonatal hyperbilirubinemia (jaundice), favism, and chronic non-spherocytic hemolytic anemia (CNSHA). The aim of the current review is to report the prevalence and genetic variants of G6PD deficiency anemia in Saudi Arabia. Read More

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September 2021

Prevalence of G6PD deficiency in Thai blood donors, the characteristics of G6PD deficient blood, and the efficacy of fluorescent spot test to screen for G6PD deficiency in a hospital blood bank setting.

Hematology 2022 Dec;27(1):208-213

Department of Transfusion Medicine, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand.

Background: Transfusion of blood from glucose-6-phosphate dehydrogenase (G6PD) enzyme deficient donors could cause a potentially unfavorable outcome, especially in newborns and those with hemoglobinopathies.

Aims: To determine the prevalence of G6PD deficiency in Thai blood donors, the characteristics of G6PD deficient blood, and the efficacy of fluorescent spot test (FST) to screen for G6PD deficiency in a hospital blood bank setting.

Methods: Blood samples were obtained from 514 Thai blood donors who donated blood at Siriraj Hospital (Bangkok, Thailand) during December 2020-February 2021. Read More

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December 2022

[Genetic Mutation Characteristics of Glucose-6-Phosphate Dehydrogenase Deficiency Patients in Wuhan].

Zhongguo Shi Yan Xue Ye Xue Za Zhi 2022 Feb;30(1):244-249

Department of Clinical Laboratory Examination, Maternal and Child Health Hospital of Hubei Province, Wuhan 430070, Hubei Province, China,E-mail:

Objective: To explore the genotype mutation characteristics of patients with glucose-6-phosphate dehydrogenase(G6PD) deficiency in Wuhan.

Methods: A total of 1 321 neonates with positive screening and outpatients were received G6PD mutation detection, 12 kinds of common G6PD mutation in Chinese people was detected by using multicolor melting curve analysis (MMCA) method, for those with negative results, the enzyme activity and clinical information were analyzed, sequencing was recommended after informed consent when it is necessary.

Results: Among 1321 patients, a total of 768 mutations were detected out, with a detection rate of 58. Read More

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February 2022

Comparative pharmacokinetics and tissue distribution of primaquine enantiomers in mice.

Malar J 2022 Feb 5;21(1):33. Epub 2022 Feb 5.

Department of Infectious Diseases, Division of Scientific Platforms, Southern Research, Birmingham, AL, 35205, USA.

Background: Primaquine (PQ) has been used for the radical cure of relapsing Plasmodium vivax malaria for more than 60 years. PQ is also recommended for prophylaxis and prevention of transmission of Plasmodium falciparum. However, clinical utility of PQ has been limited due to toxicity in individuals with genetic deficiencies in glucose 6-phosphate dehydrogenase (G6PD). Read More

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February 2022