Results 11 to 20 of about 459 (116)

Pyruvate kinase deficiency: A case series of congenital non-spherocytic hemolytic anemia

Pediatric Hematology Oncology Journal
Background: Pyruvate kinase deficiency (PKD) is a common cause of congenital non-spherocytic hemolytic anemia (CNSHA). The heterogeneity of clinical presentation complicates the diagnosis and management of this disease.
A.C. Shreyas, M. Jyothi, Vandana Bharadwaj, Anand Prakash   +3 more
doaj   +1 more source

GENETIC DISORDERS OF RED CELL GLYCOLYSIS : A REVIEW FROM THE MOLECULAR TO CLINICAL AND THERAPEUTIC APROACHES

Mediterranean Journal of Hematology and Infectious Diseases, 2014
The erythrocyte, devoid of nucleus, mitochondria,ribosomes and other organelles, has no capacity for cell replication, protein synthesis, or oxidative phosphorylation.
SOPHIA DELICOU, THEONI KANELLOPOULOU, CHRYSSANTHI KONTAXI, ARGIRI VLACHOPOULOU, ZOI PALANTZA, KONSTANTINOS MARAGKOS   +5 more
doaj  

Publication Only

HemaSphere, Volume 9, Issue S1, June 2025.
wiley   +1 more source

Glucose-6-phosphate isomerase deficiency hemolysis. [PDF]

Quant Imaging Med Surg, 2023
Huang B, Ma Z, Xie T, Liu W, Xiao J, Sun J, Li B.   +6 more
europepmc   +1 more source

Neonatal Thrombocytopenia as a Presenting Finding in de novo Pyruvate Kinase Deficiency. [PDF]

Neonatology, 2023
Dulmovits BM, Wild KT, Flibotte J, Lambert MP, Kwiatkowski J, Thom CS.   +5 more
europepmc   +1 more source

Hereditary nonspherocytic hemolytic anemia caused by glucose-6-phosphate isomerase (GPI) deficiency in a Chinese patient: a case report. [PDF]

BMC Pediatr, 2022
Zu Y, Wang H, Lin W, Zou C.
europepmc   +1 more source

First Reported Case of Glucose-6-Phosphate Isomerase Deficiency in a Saudi Child With Hemolytic Anemia. [PDF]

Cureus
Alotaibi W, Wafa S, Elzubair L, Abualama A, Alasmari BG.   +4 more
europepmc   +1 more source

Pyruvate kinase activators for treatment of pyruvate kinase deficiency. [PDF]

Hematology Am Soc Hematol Educ Program, 2023
Grace RF.
europepmc   +1 more source

Novel ABCG8 Mutation in Pediatric Sitosterolemia: A Case Report of Siblings with Hemolytic Anemia. [PDF]

Hematol Transfus Cell Ther
Saha S, Dolai TK, Ghosh K, Jajodia E.
europepmc   +1 more source

Hemolytic Anemia Due to Gamma-Glutamylcysteine Synthetase Deficiency: A Rare Novel Case in an Arab-Muslim Israeli Child. [PDF]

Hematol Rep
Haimi M, Mahamid J.
europepmc   +1 more source