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Pyruvate kinase activators for treatment of pyruvate kinase deficiency

Hematology, 2023-12, Vol.2023 (1), p.97-106

Grace, Rachael F

2023

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Generation and analysis of TPI deficiency zebrafish model

Yíchuán, 2024-03, Vol.46 (3), p.232

2024

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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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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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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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Case report: pyruvate kinase deficiency

New Jersey medicine, 1995-09, Vol.92 (9), p.587

Rothman, J M

1995

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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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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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Three cases in two families with congenital nonspherocytic hemolytic anemia due to defective glucosephosphate isomerase: GPI Matsumoto

Nihon Ketsueki Gakkai zasshi : journal of Japan Haematological Society, 1975-06, Vol.38 (3), p.238

1975

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A new glucose-6-phosphate dehydrogenase variant (G6PD Iwate) associated with congenital non-spherocytic hemolytic anemia

Nihon Ketsueki Gakkai zasshi : journal of Japan Haematological Society, 1988-07, Vol.51 (4), p.715

1988

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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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Pyruvate kinase deficiency

Nihon Ketsueki Gakkai zasshi : journal of Japan Haematological Society, 1987-12, Vol.50 (8), p.1445

Miwa, S

1987

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6 cases of inherited nonspherocytic hemolytic anemia associated with a deficit of 6-phosphogluconate dehydrogenase in the erythrocytes

Problemy gematologii i perelivaniia krovi, 1970-03, Vol.15 (3), p.32

1970

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Report of a family with congenital non-spherocytic haemolytic anemia due to functionally abnormal pyruvate-kinase

Nihon Naika Gakkai zasshi, 1970-04, Vol.59 (4), p.345-350

1970

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Lethal congenital non-spherocytic, non-immune hemolytic anemia with genital and other anomalies in two brothers

American journal of medical genetics, 1995-01, Vol.55 (3), p.319-324

1995

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Adenosine deaminase (ADA) overproduction associated with congenital hemolytic anemia: case report and molecular analysis

The Japanese journal of experimental medicine, 1988-02, Vol.58 (1), p.1

1988

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Hereditary haemolytic anaemia due to pyruvate kinase deficiency. Prognosis of neonatal forms (author's transl)

La Nouvelle presse medicale, 1982-03, Vol.11 (12), p.917

1982

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Case of hereditary hyperlipoproteinemia type I proceeding with severe anemia

Problemy gematologii i perelivaniia krovi, 1980-06, Vol.25 (6), p.57

1980

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Pyruvate kinase activators for treatment of pyruvate kinase deficiency

Generation and analysis of TPI deficiency zebrafish model

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

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

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

Case report: pyruvate kinase deficiency

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

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

A patient with anemia and jaundice

Three cases in two families with congenital nonspherocytic hemolytic anemia due to defective glucosephosphate isomerase: GPI Matsumoto

A new glucose-6-phosphate dehydrogenase variant (G6PD Iwate) associated with congenital 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)

Pyruvate kinase deficiency

6 cases of inherited nonspherocytic hemolytic anemia associated with a deficit of 6-phosphogluconate dehydrogenase in the erythrocytes

Report of a family with congenital non-spherocytic haemolytic anemia due to functionally abnormal pyruvate-kinase

Lethal congenital non-spherocytic, non-immune hemolytic anemia with genital and other anomalies in two brothers

Adenosine deaminase (ADA) overproduction associated with congenital hemolytic anemia: case report and molecular analysis

Hereditary haemolytic anaemia due to pyruvate kinase deficiency. Prognosis of neonatal forms (author's transl)

Case of hereditary hyperlipoproteinemia type I proceeding with severe anemia

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