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PIEZO1 gene mutation in a Japanese family with hereditary high phosphatidylcholine hemolytic anemia and hemochromatosis-induced diabetes mellitus

International journal of hematology, 2016-07, Vol.104 (1), p.125-129

2016

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Partial pyruvate kinase deficiency aggravates the phenotypic expression of band 3 deficiency in a family with hereditary spherocytosis

American journal of hematology, 2015-03, Vol.90 (3), p.E35-E39

2015

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Congenital Nonspherocytic Hemolytic Anemia Caused by Krüppel-Like Factor 1 Gene Variants: Another Case Report

Hemoglobin, 2019-09, Vol.43 (4-5), p.292-295

2019

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Novel PLKR mutations in four families with pyruvate kinase deficiency

International journal of laboratory hematology, 2020-04, Vol.42 (2), p.e84-e87

2020

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Hb Koln [β98(FG5) [GTG → ATG, Val → Met]: The first report from India

Hematology (Luxembourg), 2014-06, Vol.19 (4), p.199-201

2014

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A Previously Unknown Mutation in the Pyruvate Kinase Gene (PKLR) Identified from a Neonate with Severe Jaundice

Neonatology (Basel, Switzerland), 2014-01, Vol.106 (2), p.140-142

2014

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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

International journal of hematology, 2012-08, Vol.96 (2), p.263-267

2012

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Analysis and prenatal diagnosis of PKLR gene mutations in a family with pyruvate kinase deficiency

Zhonghua yi xue yi chuan xue za zhi, 2016-02, Vol.33 (1), p.53

2016

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Analysis of a pyruvate kinase deficiency consanguineous pedigree caused by Ile314Thr homozygous mutation

Zhōnghuá xuèyèxué zázhì, 2014-07, Vol.35 (7), p.601-604

2014

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HK Utrecht: missense mutation in the active site of human hexokinase associated with hexokinase deficiency and severe nonspherocytic hemolytic anemia

Blood, 2003-01, Vol.101 (1), p.345-347

2003

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PK Aarau: first homozygous nonsense mutation causing pyruvate kinase deficiency

British journal of haematology, 2004-11, Vol.127 (3), p.364-366

2004

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Evidence for founder effect of the glu104asp substitution and identification of new mutations in triosephosphate isomerase deficiency

Human mutation, 1997, Vol.10 (4), p.290-294

1997

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Several mutations including two novel mutations of the glucose-6-phosphate dehydrogenase gene in Polish G6PD deficient subjects with chronic nonspherocytic hemolytic anemia, acute hemolytic anemia, and favism

Human mutation, 1999-12, Vol.14 (6), p.477-484

1999

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PK MONDOR: PRENATAL DIAGNOSIS OF A FRAMESHIFT MUTATION IN THE LR PYRUVATE KINASE GENE ASSOCIATED WITH SEVERE HEREDITARY NON-SPHEROCYTIC HAEMOLYTIC ANAEMIA

Prenatal diagnosis, 1996-02, Vol.16 (2), p.97-104

1996

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Membrane fluidity of blood cells

Haematologia, 1996, Vol.27 (3), p.109

Hollán, S

1996

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A novel single-base mutation in the glucose 6-phosphate dehydrogenase gene is associated with chronic non-spherocytic haemolytic anaemia

Human genetics, 1994-11, Vol.94 (5), p.560-562

1994

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Hereditary Hemolytic Anemia with Increased Red Cell Adenosine Deaminase (45- to 70-fold) and Decreased Adenosine Triphosphate

Science (American Association for the Advancement of Science), 1977-02, Vol.195 (4280), p.783-785

1977

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Pyrimidine 5'-nucleotidase deficiency as the congenital cause of nonspherocytic hemolytic anemia

Deutsche medizinische Wochenschrift, 1993-09, Vol.118 (36), p.1276-1280

1993

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Molecular basis of chronic non‐spherocytic haemolytic anaemia: a new G6PD variant (393 Arg→His) with abnormal KmG6P and marked in vivo instability

British journal of haematology, 1992-01, Vol.80 (1), p.111-116

1992

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Biochemical characterization of four new erythrocyte pyruvate kinase variants

Acta haematologica, 1994, Vol.92 (2), p.91

1994

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Familial nonspherocytic hemolytic anemia in poodles

American journal of veterinary research, 1986-03, Vol.47 (3), p.687

1986

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An interesting syndrome of hemolytic anemia, degeneration of the liver and diabetes associated with a high red cell mg-atpase, detected by 31p NMR spectroscopy

NMR in biomedicine, 1989-09, Vol.2 (3), p.93-97

1989

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Two cases of red cell aldolase deficiency associated with hereditary hemolytic anemia in a japanese family

American journal of hematology, 1981-12, Vol.11 (4), p.425-437

1981

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Pyruvate kinase deficiency in the German Democratic Republic

Folia haematologica (Leipzig, Germany : 1928), 1971, Vol.96 (1), p.68

1971

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Hereditary erythrocyte pyruvate-kinase (PK) deficiency and chronic hemolytic anemia: clinical, genetic and molecular studies in six new Spanish patients

Human genetics, 1980-03, Vol.53 (3), p.401-408

1980

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PIEZO1 gene mutation in a Japanese family with hereditary high phosphatidylcholine hemolytic anemia and hemochromatosis-induced diabetes mellitus

Partial pyruvate kinase deficiency aggravates the phenotypic expression of band 3 deficiency in a family with hereditary spherocytosis

Congenital Nonspherocytic Hemolytic Anemia Caused by Krüppel-Like Factor 1 Gene Variants: Another Case Report

Novel PLKR mutations in four families with pyruvate kinase deficiency

Hb Koln [β98(FG5) [GTG → ATG, Val → Met]: The first report from India

A Previously Unknown Mutation in the Pyruvate Kinase Gene (PKLR) Identified from a Neonate with Severe 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

Analysis and prenatal diagnosis of PKLR gene mutations in a family with pyruvate kinase deficiency

Analysis of a pyruvate kinase deficiency consanguineous pedigree caused by Ile314Thr homozygous mutation

HK Utrecht: missense mutation in the active site of human hexokinase associated with hexokinase deficiency and severe nonspherocytic hemolytic anemia

PK Aarau: first homozygous nonsense mutation causing pyruvate kinase deficiency

Evidence for founder effect of the glu104asp substitution and identification of new mutations in triosephosphate isomerase deficiency

Several mutations including two novel mutations of the glucose-6-phosphate dehydrogenase gene in Polish G6PD deficient subjects with chronic nonspherocytic hemolytic anemia, acute hemolytic anemia, and favism

PK MONDOR: PRENATAL DIAGNOSIS OF A FRAMESHIFT MUTATION IN THE LR PYRUVATE KINASE GENE ASSOCIATED WITH SEVERE HEREDITARY NON-SPHEROCYTIC HAEMOLYTIC ANAEMIA

Membrane fluidity of blood cells

A novel single-base mutation in the glucose 6-phosphate dehydrogenase gene is associated with chronic non-spherocytic haemolytic anaemia

Hereditary Hemolytic Anemia with Increased Red Cell Adenosine Deaminase (45- to 70-fold) and Decreased Adenosine Triphosphate

Pyrimidine 5'-nucleotidase deficiency as the congenital cause of nonspherocytic hemolytic anemia

Molecular basis of chronic non‐spherocytic haemolytic anaemia: a new G6PD variant (393 Arg→His) with abnormal KmG6P and marked in vivo instability

Biochemical characterization of four new erythrocyte pyruvate kinase variants

Familial nonspherocytic hemolytic anemia in poodles

An interesting syndrome of hemolytic anemia, degeneration of the liver and diabetes associated with a high red cell mg-atpase, detected by 31p NMR spectroscopy

Two cases of red cell aldolase deficiency associated with hereditary hemolytic anemia in a japanese family

Pyruvate kinase deficiency in the German Democratic Republic

Hereditary erythrocyte pyruvate-kinase (PK) deficiency and chronic hemolytic anemia: clinical, genetic and molecular studies in six new Spanish patients

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