Results 21 to 30 of about 459 (116)

Challenges and opportunities with providing genetic testing and counseling for mucopolysaccharidosis type II in Kenya. [PDF]

Orphanet J Rare Dis
Mungai LNW, Njeru C, Njoroge A, Maina M, Ilovi S, Nduati RW, Wamalwa D, Odongkara B, Miller DE.   +8 more
europepmc   +1 more source

Genetic Diagnosis of Pyruvate Kinase Deficiency in Undiagnosed Iranian Patients with Severe Hemolytic Anemia, using Whole Exome Sequencing. [PDF]

Arch Iran Med, 2022
Mehrabi Sisakht J, Mehri M, Najmabadi H, Azarkeivan A, Neishabury M.   +4 more
europepmc   +1 more source

Uncovering Glucose-6-Phosphate Isomerase (GPI) Deficiency in a Five-Year-Old With Hemolytic Anemia in Bahrain. [PDF]

Cureus
Busehail M, Qasim FN, Alasheeri FJ, Aloraibi A.   +3 more
europepmc   +1 more source

A novel homozygous missense variant p.D339N in the PKLR gene correlates with pyruvate kinase deficiency in a Pakistani family: a case report. [PDF]

J Med Case Rep, 2022
Rehman AU, Rashid A, Hussain Z, Shah K.
europepmc   +1 more source

A Male Child With Combined Glucose-6-Phosphate Dehydrogenase Deficiency and Hereditary Elliptocytosis: The First Case Reported From Saudi Arabia. [PDF]

Cureus
Alasmari BG, Al Munajjim FF, Wafa S, Abualama A, Elzubair L.   +4 more
europepmc   +1 more source

Management of Anesthesia and Perioperative Procedures in a Child with Glucose-6-Phosphate Dehydrogenase Deficiency. [PDF]

J Clin Med, 2022
Cicvarić A, Glavaš Tahtler J, Vukoja Vukušić T, Bekavac I, Kvolik S.   +4 more
europepmc   +1 more source

Neonatal Pyruvate Kinase Deficiency Presenting with Severe Hemolytic Anemia and Liver Failure. [PDF]

Children (Basel)
Hsu YH, Jiang CB, Hou JY, Jim WT, Lin SP, Chang SW, Tseng KT, Lee NC.   +7 more
europepmc   +1 more source

A Novel Pathogenic Sense Variant in Exon 7 of the HK1 Gene in a Patient with Hexokinase Deficiency and Gilbert Syndrome. [PDF]

Genes (Basel)
Bartnik M, Pawlik W, Burzyńska B, Wasilewski K, Kamieńska E, Urasiński T.   +5 more
europepmc   +1 more source

Expanding families: a pilot study on preconception expanded carrier screening in Bahrain. [PDF]

BMC Pregnancy Childbirth
Skrypnyk C, AlHarmi R, Mathur A, AlHafnawi HH, Chandan Appikonda SH, Matsa LS.   +5 more
europepmc   +1 more source

Clinical outcome and genotype analysis of four Chinese children with pyruvate kinase deficiency. [PDF]

Mol Genet Genomic Med, 2023
Xie F, Gan L, Lei L, Cai T, Gao Y, Liu X, Cai B, Zhou L.   +7 more
europepmc   +1 more source