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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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A PKLR Gene Novel Complex Mutation in Erythrocyte Pyruvate Kinase Deficiency Detected by Targeted Sequence Capture and Next Generation Sequencing

Zhongguo shi yan xue ye xue za zhi, 2015-10, Vol.23 (5), p.1464

2015

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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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From gene to disease; hereditary non-spherocytic hemolytic anemia caused by pyruvate kinase deficiency

Nederlands tijdschrift voor geneeskunde, 2002-09, Vol.146 (39), p.1828

2002

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Glucose-6-phosphate dehydrogenase deficiency, neonatal hyperbilirubinemia and Gilbert syndrome

Acta médica portuguesa, 2002-11, Vol.15 (6), p.409-412

2002

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Erythrocytic enzymopathy in Uzbekistan

Likars'ka sprava, 2011-10 (7-8), p.73

2011

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Glucose phosphate isomerase deficiency with congenital nonspherocytic hemolytic anemia

הרפואה, 1994-06, Vol.126 (12), p.699

1994

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Electrophoretic heterogeneity of pyruvate kinase in erythrocytes in patients with enzymopathies

Acta Universitatis Palackianae Olomucensis Facultatis Medicae, 1985, Vol.111, p.467

Rotrekl, B

1985

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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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The C1155G mutation of the red blood cell glucose-6-phosphate dehydrogenase gene in a subject with severe hereditary chronic nonspherocytic anaemia

Medycyna wieku rozwojowego, 2009-04, Vol.13 (2), p.136

2009

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Köln hemoglobinopathy: 3 patients in one Russian family

Terapevtic̆eskii arhiv, 1993, Vol.65 (7), p.45

1993

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Chronic non-spherocytic hemolytic anemia caused by pyruvate kinase deficiency in a Costa Rican family carrying hemoglobin C disease

Sangre (Zaragoza), 1990-04, Vol.35 (2), p.128

1990

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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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Hemolytic anemia caused by pyruvate kinase deficiency and pregnancy

Verhandlungen der Deutschen Gesellschaft für Innere Medizin, 1974, Vol.80, p.1517

1974

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Complicated cholecysto-choledocholithiasis in a patient with atypical glucose-6-phosphate dehydrogenase enzyme defect

Zentralblatt für Chirurgie, 1989, Vol.114 (22), p.1473

1989

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Hereditary nonspherocytic hemolytic anemia with a high level of membraneous Mg++-ATPase: lipohepato-diabeto-hemolytic syndrome

Rinshō ketsueki, 1986-07, Vol.27 (7), p.1160

Kagimoto, T

1986

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Problems of erythrocyte metabolism in anemias with pyruvate kinase deficiency

Folia haematologica (Leipzig, Germany : 1928), 1965, Vol.83 (4), p.395

Busch, D

1965

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Two cases in a family with new variants of glucose phosphate isomerase deficiency (author's transl)

Rinshō ketsueki, 1980-05, Vol.21 (5), p.633

1980

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Familial erythrocyte ATP: pyruvate phosphotransferase deficiency

Acta haematologica polonica, 1982-07, Vol.13 (3-4), p.157

1982

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Formal genetics of phosphoglucose isomerase (EC:5.3.1.9). Studies of a family with PGI-deficiency

Humangenetik, 1970, Vol.10 (3), p.218-223

1970

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Two cases of pyruvate kinase variants (author's transl)

Rinshō ketsueki, 1982-02, Vol.23 (2), p.206

1982

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A patient with anemia and jaundice

Nederlands tijdschrift voor geneeskunde, 1976-12, Vol.120 (52), p.2304

1976

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4 cases of familial non-spherocytic hemolytic anemia

Pediatrija, 1972-06, Vol.51 (6), p.79

1972

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A family of new glucose 6-phosphate dehydrogenase (G 6 PD) variant associated with chronic nonspherocytic hemolytic anemia: G 6 PD Kurume (author's transl)

Rinshō ketsueki, 1979-01, Vol.20 (1), p.82

1979

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Congenital erythrocytic pyrimidine 5'-nucleotidase deficiency. A new type of haemolytic erythro-enzymopathy (author's transl)

Sangre (Zaragoza), 1976, Vol.21 (4), p.827

1976

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

A PKLR Gene Novel Complex Mutation in Erythrocyte Pyruvate Kinase Deficiency Detected by Targeted Sequence Capture and Next Generation Sequencing

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

From gene to disease; hereditary non-spherocytic hemolytic anemia caused by pyruvate kinase deficiency

Glucose-6-phosphate dehydrogenase deficiency, neonatal hyperbilirubinemia and Gilbert syndrome

Erythrocytic enzymopathy in Uzbekistan

Glucose phosphate isomerase deficiency with congenital nonspherocytic hemolytic anemia

Electrophoretic heterogeneity of pyruvate kinase in erythrocytes in patients with enzymopathies

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

The C1155G mutation of the red blood cell glucose-6-phosphate dehydrogenase gene in a subject with severe hereditary chronic nonspherocytic anaemia

Köln hemoglobinopathy: 3 patients in one Russian family

Chronic non-spherocytic hemolytic anemia caused by pyruvate kinase deficiency in a Costa Rican family carrying hemoglobin C disease

Pyruvate kinase deficiency in the German Democratic Republic

Hemolytic anemia caused by pyruvate kinase deficiency and pregnancy

Complicated cholecysto-choledocholithiasis in a patient with atypical glucose-6-phosphate dehydrogenase enzyme defect

Hereditary nonspherocytic hemolytic anemia with a high level of membraneous Mg++-ATPase: lipohepato-diabeto-hemolytic syndrome

Problems of erythrocyte metabolism in anemias with pyruvate kinase deficiency

Two cases in a family with new variants of glucose phosphate isomerase deficiency (author's transl)

Familial erythrocyte ATP: pyruvate phosphotransferase deficiency

Formal genetics of phosphoglucose isomerase (EC:5.3.1.9). Studies of a family with PGI-deficiency

Two cases of pyruvate kinase variants (author's transl)

A patient with anemia and jaundice

4 cases of familial non-spherocytic hemolytic anemia

A family of new glucose 6-phosphate dehydrogenase (G 6 PD) variant associated with chronic nonspherocytic hemolytic anemia: G 6 PD Kurume (author's transl)

Congenital erythrocytic pyrimidine 5'-nucleotidase deficiency. A new type of haemolytic erythro-enzymopathy (author's transl)

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