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Glucose phosphate isomerase deficiency demasked by whole-genome sequencing: a case report

Journal of medical case reports, 2024-03, Vol.18 (1), p.130-130, Article 130

2024

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Genetic Analysis of Two Novel GPI Variants Disrupting H Bonds and Localization Characteristics of 55 Gene Variants Associated with Glucose-6-phosphate Isomerase Deficiency

Current medical science, 2024-04, Vol.44 (2), p.426-434

2024

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The novel compound heterozygous variants identified in a Chinese family with glucose phosphate isomerase deficiency and pathogenicity analysis

BMC medical genomics, 2023-07, Vol.16 (1), p.162-162, Article 162

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.191-7, Article 191

2021

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A novel homozygous missense variant p.D339N in the PKLR gene correlates with pyruvate kinase deficiency in a Pakistani family: a case report

Journal of medical case reports, 2022-02, Vol.16 (1), p.66-66, Article 66

2022

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Structural analysis on mutation residues and interfacial water molecules for human TIM disease understanding

BMC bioinformatics, 2013-10, Vol.14 Suppl 16 (S16), p.S11-S11, Article S11

2013

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Erythrocyte pyruvate kinase deficiency mutation identified in multiple breeds of domestic cats

BMC veterinary research, 2012-10, Vol.8 (1), p.207-207

2012

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Congenital non spherocytic hemolytic anemia (CNSHA) due to pyrimidine 5' nucleotidase deficiency

Indian pediatrics, 2006-02, Vol.43 (2), p.184

2006

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Enzymopenic hemolytic anemia in an Austrian family

Wiener Klinische Wochenschrift, 1969-02, Vol.81 (8), p.135-137

1969

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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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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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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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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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Glucocorticoid-induced effect of erythropoietin in haemolytic anaemia with uraemia and red cell enzyme deficiency (author's transl)

Wiener Klinische Wochenschrift, 1978-10, Vol.90 (19), p.690-695

1978

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Molecular and functional anomalies in two new mutant glucose-phosphate-insomerase variants with enzyme deficiency and chronic hemolysis

Human genetics, 1978-02, Vol.40 (3), p.293-304

1978

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Glucose-6-phosphate dehydrogenase defect in Germany. II. Properties of the enzyme (type "Freiburg")

Klinische Wochenschrift, 1970-01, Vol.48 (2), p.74-78

1970

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Congenital nonspherocytic hemolytic anemia associated with glucosephosphate isomerase deficiency: variant Paderborn

Klinische Wochenschrift, 1977-04, Vol.55 (8), p.393-396

1977

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CONGENITAL NONSPHEROCYTIC HEMOLYTIC ANEMIA IN FAMILIAL DPNH AND TPNH-DEPENDENT GLUTATHIONE REDUCTASE DEFICIENCY OF THE ERYTHROCYTES. I

Klinische Wochenschrift, 1965-04, Vol.43, p.427-429

1965

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A new variant of glucosephosphate isomerase deficiency

Humangenetik, 1975-10, Vol.30 (1), p.35-40

1975

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Glucose phosphate isomerase deficiency demasked by whole-genome sequencing: a case report

Genetic Analysis of Two Novel GPI Variants Disrupting H Bonds and Localization Characteristics of 55 Gene Variants Associated with Glucose-6-phosphate Isomerase Deficiency

The novel compound heterozygous variants identified in a Chinese family with glucose phosphate isomerase deficiency and pathogenicity analysis

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

A novel homozygous missense variant p.D339N in the PKLR gene correlates with pyruvate kinase deficiency in a Pakistani family: a case report

Structural analysis on mutation residues and interfacial water molecules for human TIM disease understanding

Erythrocyte pyruvate kinase deficiency mutation identified in multiple breeds of domestic cats

Congenital non spherocytic hemolytic anemia (CNSHA) due to pyrimidine 5' nucleotidase deficiency

Enzymopenic hemolytic anemia in an Austrian family

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

Newly discovered roles of triosephosphate isomerase including functions within the nucleus

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

Glucocorticoid-induced effect of erythropoietin in haemolytic anaemia with uraemia and red cell enzyme deficiency (author's transl)

Molecular and functional anomalies in two new mutant glucose-phosphate-insomerase variants with enzyme deficiency and chronic hemolysis

Glucose-6-phosphate dehydrogenase defect in Germany. II. Properties of the enzyme (type "Freiburg")

Congenital nonspherocytic hemolytic anemia associated with glucosephosphate isomerase deficiency: variant Paderborn

CONGENITAL NONSPHEROCYTIC HEMOLYTIC ANEMIA IN FAMILIAL DPNH AND TPNH-DEPENDENT GLUTATHIONE REDUCTASE DEFICIENCY OF THE ERYTHROCYTES. I

A new variant of glucosephosphate isomerase deficiency

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