Results 1 to 10 of about 20,164 (174)

Glucose-6-phosphate dehydrogenase deficiency as a cause for nonimmune hydrops fetalis and severe fetal anemia: A systematic review. [PDF]

Mol Genet Genomic Med
Glucose‐6‐phosphate dehydrogenase (G6PD) deficiency is a rare cause of nonimmune hydrops fetalis and most cases require fetal or neonatal transfusion. Although G6PD deficiency is an X‐linked recessive condition, female fetuses can be affected. Testing should be considered if parental history indicates.
Iyer NS, Mossayebi MH, Gao TJ, Haizler-Cohen L, Di Mascio D, McLaren RA, Al-Kouatly HB.   +6 more
europepmc   +5 more sources

Population screening for glucose-6-phosphate dehydrogenase deficiency using quantitative point-of-care tests: a systematic review

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, Raja Zahratul Azma Raja Sabudin, Azlin Ithnin, Hafiza Alauddin, Siti Aishah Sulaiman, Endom Ismail, Ainoon Othman   +6 more
doaj   +2 more sources

Scrub Typhus Infection Precipitating Hemolysis in a Patient With G6PD Deficiency: A Case Report [PDF]

Clinical Case Reports
Glucose‐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, Mandira Shrestha, Chaitanya Darshan Bhattarai, Kiran Lamichhane, Paras Yadav, Debendra Tamatta   +5 more
doaj   +2 more sources

[Various genetic and clinical aspects of patients with hemolytic anemia caused by glucosephosphate dehydrogenase deficiency (DG6F)].

Boletin medico del Hospital Infantil de Mexico, 1975
Five families with DG6F deficiency were studied. Out of the first family, neinatal hyperbilirubinemia was evident in 3 children. Exchange transfusion was given to the first two. Possibly, the hemolytic crisis was subsequent to the application of vitamin K.
A H, Toro, R, Soto Allande, A, Bello González   +2 more
openaire   +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, , Hajer Al-Gheithi, Muntadhar Al Moosawi, Shaoib Al-Zadjali, Yasser Wali, Murtadha Al-Khabori   +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, Mahsa Mansouri, Leila Eftekhar   +2 more
doaj   +1 more source

The presence and severity of epilepsy coincide with reduced γ‐aminobutyrate and cortical excitatory markers in succinic semialdehyde dehydrogenase deficiency

Epilepsia, 2023
Succinic semialdehyde dehydrogenase deficiency (SSADHD) is a rare inherited metabolic disorder caused by a defect of γ‐aminobutyrate (GABA) catabolism.
Itay Tokatly Latzer, M. Bertoldi, Melissa L. DiBacco, E. Arning, M. Tsuboyama, Paul C MacMullin, Daniyal Sachee, A. Rotenberg, Henry H C Lee, Deniz Aygun, T. Opladen, K. Jeltsch, À. García-Cazorla, J. Roullet, K. Gibson, P. Pearl   +15 more
semanticscholar   +1 more source

Medium‐chain Acyl‐COA dehydrogenase deficiency: Pathogenesis, diagnosis, and treatment

Endocrinology, Diabetes & Metabolism, 2022
Medium‐Chain Acyl‐CoA Dehydrogenase Deficiency (MCADD) is the most common inherited metabolic disorder of β‐oxidation. Patients with MCADD present with hypoketotic hypoglycemia, which may quickly progress to lethargy, coma, and death. Prognosis for MCADD
E. Mason, Charles T. Hindmarch, Kimberly J. Dunham-Snary   +2 more
semanticscholar   +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, Masooma S. Mohamed, Afaf M. Mohamed, Adel Abdulla, Fuad Abdulla   +4 more
doaj   +1 more source

Testing for Dihydropyrimidine Dehydrogenase Deficiency to Individualize 5-Fluorouracil Therapy

Cancers, 2022
Simple Summary 5-Fluorouracil (5-FU) is a chemotherapy drug that is commonly used to treat multiple cancers. Many people who are treated with 5-FU experience severe toxicity to the drug, and in severe cases, patients can die.
R. Diasio, S. Offer
semanticscholar   +1 more source