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Glucose 6-phosphate dehydrogenase variants: a unique variant (G6PD Kobe) showed an extremely increased affinity for galactose 6-phosphate and a new variant (G6PD Sapporo) resembling G6PD Pea Ridge

Human genetics, 1981-10, Vol.58 (4), p.405-407

1981

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Glucosephosphate isomerase deficiency, a new variant in a Dutch family. Case report

European journal of pediatrics, 1977-04, Vol.125 (1), p.21-28

1977

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Pyruvate kinase "Göttingen 1,2": congenital hemolytic anemia, evidence of double heterozygosity, and lack of enzyme cooperativity

Human genetics, 1982, Vol.60 (4), p.381-386

1982

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Three cases of hereditary hemolytic anemia with pyrimidine 5'-nucleotidase deficiency in a Japanese family

Human genetics, 1977-07, Vol.37 (3), p.361-364

1977

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G6PD-Puerto Limón: a new deficient variant of glucose-6-phosphate dehydrogenase associated with congenital nonspherocytic hemolytic anemia

Human genetics, 1982-01, Vol.62 (2), p.110-112

1982

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Three new electrophoretically normal glucose-6-phosphate dehydrogenase variants associated with congenital nonspherocytic hemolytic anemia found in Japan: G6PD Ogikubo, Yokohama, and Akita

Human genetics, 1978-11, Vol.45 (1), p.11-17

1978

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Gd(-) Rennes, a new deficient variant of glucose-6-phosphate dehydrogenase associated with congenital nonspherocytic hemolytic anemia found in France

Human genetics, 1980-07, Vol.55 (1), p.125-127

1980

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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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Augsburg-type glucosephosphate isomerase deficiency. A new variant causing congenital nonspherocytic hemolytic anemia in a German family

Blut, 1980-02, Vol.40 (2), p.107-115

1980

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Hereditary high-adenosine triphosphate syndrome: study of a new variant

Biochemical genetics, 1981-10, Vol.19 (9-10), p.1017-1022

1981

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Inherited glucosephosphate isomerase deficiency. A review of known variants and some aspects of the pathomechanism of the deficiency

Blut, 1979-12, Vol.39 (6), p.405-417

Arnold, H

1979

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The detection of heterozygous G6PD deficiency; similarity between glutathione deficiency and G6PD deficiency

Human genetics, 1970-01, Vol.9 (3), p.254-255

Prins, H K

1970

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The polymorphism of nucleosid effect in pyruvate kinase deficiency

Human genetics, 1970-01, Vol.9 (3), p.257-259

1970

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On 2 new cases of hereditary nonspherocytic hemolytic anemia associated with glucose-6-phosphate-dehydrogenase deficiency in a North-German family. I

Klinische Wochenschrift, 1968-02, Vol.46 (3), p.146-149

1968

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Glutathione reductase deficiency with hematological and neurologic disorders. (Autosomal dominant hereditary formation of a pathological enzyme)

Klinische Wochenschrift, 1965-04, Vol.43 (8), p.413-426

1965

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Laboratory Approach to Hemolytic Anemia

Indian journal of pediatrics, 2020, Vol.87 (1), p.66-74

2020

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Newly discovered roles of triosephosphate isomerase including functions within the nucleus

Molecular medicine (Cambridge, Mass.), 2023-01, Vol.29 (1), p.18-18, Article 18

2023

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Rare hereditary nonspherocytic hemolytic anemia caused by a novel homozygous mutation, c.301C > A, (Q101K), in the AK1 gene in an Indian family

BMC medical genomics, 2021-07, Vol.14 (1), p.191-191, Article 191

2021

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Glucose phosphate isomerase deficiency : biochemical and molecular genetic studies on the enzyme variants of two patients with severe haemolytic anaemia

European journal of pediatrics, 1997-08, Vol.156 (8), p.605-609

1997

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GPI Mount Scopus : a variant of glucosephosphate isomerase deficiency

Annals of hematology, 1993-10, Vol.67 (4), p.197-200

1993

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Generalised glucosephosphate isomerase (GPI) deficiency causing haemolytic anaemia, neuromuscular symptoms and impairment of granulocytic function: a new syndrome due to a new stable GPI variant with diminished specific activity (GPI Homburg)

European journal of pediatrics, 1985-11, Vol.144 (4), p.301-305

1985

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Sequence characterization of alleles Gpi1-Sa and Gpi1-Sb at the glucose phosphate isomerase structural locus

Mammalian genome, 1995-08, Vol.6 (8), p.537-539

1995

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Clinical symptoms and biochemical properties of three new glucosephosphate isomerase variants

Blut, 1986-07, Vol.53 (1), p.21-28

1986

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Clinical and biochemical studies of glucosephosphate isomerase of normal human erythrocytes and in glucosephosphate isomerase deficiency

Klinische Wochenschrift, 1970-11, Vol.48 (21), p.1299-1308

1970

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Glucose 6-phosphate dehydrogenase variants: a unique variant (G6PD Kobe) showed an extremely increased affinity for galactose 6-phosphate and a new variant (G6PD Sapporo) resembling G6PD Pea Ridge

Glucosephosphate isomerase deficiency, a new variant in a Dutch family. Case report

Pyruvate kinase "Göttingen 1,2": congenital hemolytic anemia, evidence of double heterozygosity, and lack of enzyme cooperativity

Three cases of hereditary hemolytic anemia with pyrimidine 5'-nucleotidase deficiency in a Japanese family

G6PD-Puerto Limón: a new deficient variant of glucose-6-phosphate dehydrogenase associated with congenital nonspherocytic hemolytic anemia

Three new electrophoretically normal glucose-6-phosphate dehydrogenase variants associated with congenital nonspherocytic hemolytic anemia found in Japan: G6PD Ogikubo, Yokohama, and Akita

Gd(-) Rennes, a new deficient variant of glucose-6-phosphate dehydrogenase associated with congenital nonspherocytic hemolytic anemia found in France

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

Augsburg-type glucosephosphate isomerase deficiency. A new variant causing congenital nonspherocytic hemolytic anemia in a German family

Hereditary high-adenosine triphosphate syndrome: study of a new variant

Inherited glucosephosphate isomerase deficiency. A review of known variants and some aspects of the pathomechanism of the deficiency

The detection of heterozygous G6PD deficiency; similarity between glutathione deficiency and G6PD deficiency

The polymorphism of nucleosid effect in pyruvate kinase deficiency

On 2 new cases of hereditary nonspherocytic hemolytic anemia associated with glucose-6-phosphate-dehydrogenase deficiency in a North-German family. I

Glutathione reductase deficiency with hematological and neurologic disorders. (Autosomal dominant hereditary formation of a pathological enzyme)

Low catalytic activity is insufficient to induce disease pathology in triosephosphate isomerase deficiency

Laboratory Approach to Hemolytic Anemia

Newly discovered roles of triosephosphate isomerase including functions within the nucleus

Rare hereditary nonspherocytic hemolytic anemia caused by a novel homozygous mutation, c.301C > A, (Q101K), in the AK1 gene in an Indian family

Glucose phosphate isomerase deficiency : biochemical and molecular genetic studies on the enzyme variants of two patients with severe haemolytic anaemia

GPI Mount Scopus : a variant of glucosephosphate isomerase deficiency

Generalised glucosephosphate isomerase (GPI) deficiency causing haemolytic anaemia, neuromuscular symptoms and impairment of granulocytic function: a new syndrome due to a new stable GPI variant with diminished specific activity (GPI Homburg)

Sequence characterization of alleles Gpi1-Sa and Gpi1-Sb at the glucose phosphate isomerase structural locus

Clinical symptoms and biochemical properties of three new glucosephosphate isomerase variants

Clinical and biochemical studies of glucosephosphate isomerase of normal human erythrocytes and in glucosephosphate isomerase deficiency

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