Disease: Hereditary non-spherocytic hemolytic anemia
- A new erythroenzymopathy: congenital non-spherocytic hemolytic anemia and hereditary erythrocytic adenylate kinase deficiency
- A new simple approach for the determination of pyrimidine 5'-nucleotidase activity in human erythrocytes using an ELISA reader
- A novel binding of GTP stabilizes the structure and modulates the activities of human phosphoglucose isomerase/autocrine motility factor
- Atypical hereditary corpuscular non-spherocytic hemolytic anemia
- Behavior of various erythrocyte enzyme activities in 3 cases of non-spherocytic hereditary hemolytic anemia
- Biallelic hexokinase 1 (HK1) variants causative of non-spherocytic haemolytic anaemia: A case series with emphasis on the HK1 promoter variant and literature review
- Case report: A rare case of pyruvate kinase deficiency and Crigler-Najjar syndrome type II with a novel pathogenic variant of <em>PKLR</em> and <em>UGT1A1</em> mutation
- CHRONIC HEMOLYTIC NON SPHEROCYTIC ANEMIA SECONDARY TO DEFICIENCY OF ERYTHROCYTE GLUCOSE-6-PHOSPHATE DEHYDROGENASE. DESCRIPTION OF A CASE
- Chronic non-spherocytic haemolytic anaemia due to congenital pyrimidine 5' nucleotidase deficiency: 25 years later
- Chronic non-spherocytic hemolytic anemia associated with severe neurological disease due to gamma-glutamylcysteine synthetase deficiency in a patient of Moroccan origin
- Compound Heterozygosity for <em>KLF1</em> Mutations Causing Hemolytic Anemia in Children: A Case Report and Literature Review
- Compound Heterozygosity for KLF1 Mutations Causing Hemolytic Anemia in Children: A Case Report and Literature Review
- Congenital non-spherocytic hemolytic jaundice with glucose-6-phosphate dehydrogenase deficiency. 2 cases
- Consensus document for the diagnosis and treatment of pyruvate kinase deficiency
- De novo variants in HK1 associated with neurodevelopmental abnormalities and visual impairment
- Diagnosing dehydrated hereditary stomatocytosis due to a <em>KCNN4</em> Gardos channel mutation: understanding challenges through study of a multi-generational family
- Diagnosing dehydrated hereditary stomatocytosis due to a KCNN4 Gardos channel mutation: understanding challenges through study of a multi-generational family
- Diagnosis of hemolytic anemia with unstable hemoglobin
- Elevated pyruvate kinase activity in patients with hemolytic anemia due to red cell pyruvate kinase "deficiency"
- Erythroid Krüppel-Like Factor (KLF1): A Surprisingly Versatile Regulator of Erythroid Differentiation
- Experience with the glycerol lysis test in acid medium in diagnosis of hereditary spherocytosis
- Extreme deficiency of L-type pyruvate kinase with moderate clinical expression
- From gene to disease; hereditary non-spherocytic hemolytic anemia caused by pyruvate kinase deficiency
- G6PD-MutDB: a mutation and phenotype database of glucose-6-phosphate (G6PD) deficiency
- G6PD: population genetics and clinical manifestations
- Glucocorticoid-induced effect of erythropoietin in haemolytic anaemia with uraemia and red cell enzyme deficiency (author's transl)
- Glucose Phosphate Isomerase Deficiency: High Prevalence of p.Arg347His Mutation in Indian Population Associated with Severe Hereditary Non-Spherocytic Hemolytic Anemia Coupled with Neurological Dysfunction
- Glucose-6-phosphate dehydrogenase deficiency
- Glucose-6-phosphate dehydrogenase deficiency and hereditary hemolytic anemia
- Glucose-6-phosphate isomerase deficiency
- Glutathion-synthetase deficiency with 5-oxoprolinuria. Two new cases and a review of the literature (author's transl)
- Hemolytic anemias due to erythrocyte enzyme deficiencies
- Hereditary erythrocyte pyrimidine 5'-nucleotidase deficiency: a biochemical, genetic and clinical overview
- Hereditary non-spherocytic haemolytic anaemia due to red blood cell glutathione synthetase deficiency in four unrelated patients from Spain: clinical and molecular studies
- Hereditary non-spherocytic haemolytic anaemia with post-splenectomy inclusion bodies and pigmenturia caused by an unstable haemoglobin Santa Ana-beta-88 (F4) leucine--proline
- HEREDITARY NON-SPHEROCYTIC HAEMOLYTIC ANAEMIA. A STUDY OF RED-CELL CARBOHYDRATE METABOLISM IN TWELVE CASES OF PYRUVATE-KINASE DEFICIENCY
- Hereditary non-spherocytic hemolytic anemia
- Hereditary non-spherocytic hemolytic anemia
- Hereditary Non-Spherocytic Hemolytic Anemia (HNSHA): Four Children with Rare Hereditary Red Cell Enzymopathies
- Hereditary non-spherocytic hemolytic anemia (jaundice)
- Hereditary non-spherocytic hemolytic anemia and severe glucose phosphate isomerase deficiency in an Indian patient homozygous for the L487F mutation in the human GPI gene
- Hereditary non-spherocytic hemolytic anemia caused by glucose-6-phosphate dehydrogenase deficiency. Formation of an enzyme protein with modified characteristics in the blood cells of a German family
- Hereditary non-spherocytic hemolytic anemia caused by glucosephosphate isomerase deficiency: 1. case observed in Switzerland
- Hereditary non-spherocytic hemolytic anemia of the pyruvate-kinase deficient type
- Hereditary pyrimidine 5'-nucleotidase deficiency: from genetics to clinical manifestations
- Heterogeneity of erythrocyte pyruvate kinase deficiency and related metabolic disorders in patients with hematological diseases
- Hexokinase: gene structure and mutations
- HIV seroprevalence in hematologic patients other than hemophiliacs at Ramathibodi Hospital
- Immunological studies on glucosephosphate isomerase deficiency: instability and impaired synthesis of the defective enzyme (author's transl)
- Increased red cell turnover in a line of CD22-deficient mice is caused by Gpi1c: a model for hereditary haemolytic anaemia
- Inherited, non-spherocytic haemolysis due to deficiency of glucose-6-phosphate dehydrogenase
- Low substrate affinity of pyruvate kinase variant (PK Sapporo) caused by a single amino acid substitution (426 Arg-->Gln) associated with hereditary hemolytic anemia
- Low substrate affinity of pyruvate kinase variant (PK Sapporo) caused by a single amino acid substitution (426 Arg-->Gln) associated with hereditary hemolytic anemia
- Molecular abnormality of a Japanese glucose-6-phosphate dehydrogenase variant (G6PD Tokyo) associated with hereditary non-spherocytic hemolytic anemia
- Molecular Analyses of Pyruvate Kinase Deficient Turkish Patients from a Single Center
- Molecular basis of pyrimidine 5'-nucleotidase deficiency caused by 3 newly identified missense mutations (c.187T>C, c.469G>C and c.740T>C) and a tabulation of known mutations
- Molecular diagnosis of unexplained haemolytic anaemia using targeted next-generation sequencing panel revealed (p.Ala337Thr) novel mutation in GPI gene in two Indian patients
- Myopathic form of phosphoglycerate kinase (PGK) deficiency: a new case and pathogenic considerations
- New missense homozygous mutation (Q270Ter) in the pyrimidine 5' nucleotidase type I-related gene in two Indian families with hereditary non-spherocytic hemolytic anemia
- Non-spherocytic hereditary hemolytic anemia, with thrombopenia. An unclassifiable case with enzymatic study
- NON-SPHEROCYTIC HEREDITARY HEMOLYTIC ANEMIA. GENERALITIES ON ITS HISTORY AND DIAGNOSTIC CONDITIONS
- Novel pathogenic variant c.2714C>A (p. Thr905Lys) in the <em>HK1</em> gene causing severe haemolytic anaemia with developmental delay in an Indian family
- Novel pathogenic variant c.2714C>A (p. Thr905Lys) in the HK1 gene causing severe haemolytic anaemia with developmental delay in an Indian family
- On a case of congenital hemolytic non-spherocytic anemia
- ON THE DIFFERENTIAL DIAGNOSIS OF HEREDITARY NON-SPHEROCYTIC HEMOLYTIC ANEMIAS
- PGK deficiency
- PIEZO1 gene mutation in a Japanese family with hereditary high phosphatidylcholine hemolytic anemia and hemochromatosis-induced diabetes mellitus
- PK Mondor: prenatal diagnosis of a frameshift mutation in the LR pyruvate kinase gene associated with severe hereditary non-spherocytic haemolytic anaemia
- Pyruvate kinase activator: A major breakthrough in the world of Hematology
- Pyruvate kinase activity of erythrocytes in hereditary non-spherocytic hemolytic anemias
- Pyruvate kinase activity of erythrocytes in hereditary non-spherocytic hemolytic anemias
- Pyruvate Kinase Deficiency
- Pyruvate Kinase Deficiency
- Pyruvate kinase deficiency in hereditary, non-spherocytic hemolytic anemia
- Red Blood Cell Metabolism in Pyruvate Kinase Deficient Patients
- Red cell membrane Na+ transport systems in hereditary spherocytosis: relevance to understanding the increased Na+ permeability
- Red cell pyruvate kinase deficiency in neonatal jaundice cases in India
- Red cell pyruvate kinase deficiency in Southern Sardinia
- Red cell pyruvate kinase deficiency: from genetics to clinical manifestations
- Red cell pyruvate kinase deficiency: molecular and clinical aspects
- Residual pyruvate kinase activity in PKLR-deficient erythroid precursors of a patient suffering from severe haemolytic anaemia
- SARS-CoV nucleocapsid protein interacts with cellular pyruvate kinase protein and inhibits its activity
- STUDIES IN CONGENITAL NON-SPHEROCYTIC HAEMOLYTIC ANAEMIAS WITH SPECIFIC ENZYME DEFECTS
- Studies on glycolysis in hereditary non-spherocytic hemolytic disease
- Targeted next-generation sequencing identifies eighteen novel mutations expanding the molecular and clinical spectrum of PKLR gene disorders in the Indian population
- The clinical biochemistry of 5'-nucleotidase
- THE HEREDITARY NON-SPHEROCYTIC HAEMOLYTIC ANAEMIAS
- THE HEREDITARY NON-SPHEROCYTIC HAEMOLYTIC ANAEMIAS
- The pyruvate kinase (PK) to hexokinase enzyme activity ratio and erythrocyte PK protein level in the diagnosis and phenotype of PK deficiency
- The variable manifestations of disease in pyruvate kinase deficiency and their management
- Three new exon 10 glucose-6-phosphate dehydrogenase mutations
- Transgenic rescue of hemolytic anemia due to red blood cell pyruvate kinase deficiency
- Two new mutations of the P5'N-1 gene found in Italian patients with hereditary hemolytic anemia: the molecular basis of the red cell enzyme disorder
- Two new variants of glucose-6-phosphate dehydrogenase associated with hereditary non-spherocytic hemolytic anemia: G6PD Wayne and G6PD Huron