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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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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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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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Targeted next-generation sequencing identifies eighteen novel mutations expanding the molecular and clinical spectrum of PKLR gene disorders in the Indian population

Annals of hematology, 2023-05, Vol.102 (5), p.1029-1036

2023

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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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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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Clinical, laboratory, and mutational profile of children with glucose phosphate isomerase deficiency: a single centre report

International journal of hematology, 2022-02, Vol.115 (2), p.255-262

2022

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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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Identification and in silico characterization of a novel PKLR genotype in a Turkish newborn

Molecular biology reports, 2020-10, Vol.47 (10), p.8311-8315

2020

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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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Study of pathophysiology and molecular characterization of congenital anemia in India using targeted next-generation sequencing approach

International journal of hematology, 2019-11, Vol.110 (5), p.618-626

2019

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

Journal of inherited metabolic disease, 2019-09, Vol.42 (5), p.839-849

2019

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Glucose Phosphate Isomerase Deficiency: High Prevalence of p.Arg347His Mutation in Indian Population Associated with Severe Hereditary Non-Spherocytic Hemolytic Anemia Coupled with Neurological Dysfunction

Indian journal of pediatrics, 2019-08, Vol.86 (8), p.692-699

2019

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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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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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New missense homozygous mutation (Q270Ter) in the pyrimidine 5′ nucleotidase type I-related gene in two Indian families with hereditary non-spherocytic hemolytic anemia

Annals of hematology, 2013-05, Vol.92 (5), p.715-717

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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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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Chronic nonspherocytic hemolytic anemia due to glucose-6-phosphate dehydrogenase deficiency: report of two families with novel mutations causing G6PD Bangkok and G6PD Bangkok Noi

Annals of hematology, 2011-07, Vol.90 (7), p.769-775

2011

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A novel missense mutation in glucose-6-phosphate dehydrogenase gene causing chronic nonspherocytic hemolytic anemia in an Indian family

Annals of hematology, 2006-12, Vol.85 (12), p.879-880

2006

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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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Hydrops fetalis associated with erythrocyte pyruvate kinase deficiency

European journal of pediatrics, 2000-07, Vol.159 (7), p.481-482

2000

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Molecular basis of neurological dysfunction coupled with haemolytic anaemia in human glucose-6-phosphate isomerase (GP1) deficiency

Human genetics, 1998-10, Vol.103 (4), p.450-454

1998

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

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

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

Targeted next-generation sequencing identifies eighteen novel mutations expanding the molecular and clinical spectrum of PKLR gene disorders in the Indian population

Newly discovered roles of triosephosphate isomerase including functions within the nucleus

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

Clinical, laboratory, and mutational profile of children with glucose phosphate isomerase deficiency: a single centre report

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

Identification and in silico characterization of a novel PKLR genotype in a Turkish newborn

Laboratory Approach to Hemolytic Anemia

Study of pathophysiology and molecular characterization of congenital anemia in India using targeted next-generation sequencing approach

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

Glucose Phosphate Isomerase Deficiency: High Prevalence of p.Arg347His Mutation in Indian Population Associated with Severe Hereditary Non-Spherocytic Hemolytic Anemia Coupled with Neurological Dysfunction

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

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

New missense homozygous mutation (Q270Ter) in the pyrimidine 5′ nucleotidase type I-related gene in two Indian families with hereditary non-spherocytic hemolytic anemia

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

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

Chronic nonspherocytic hemolytic anemia due to glucose-6-phosphate dehydrogenase deficiency: report of two families with novel mutations causing G6PD Bangkok and G6PD Bangkok Noi

A novel missense mutation in glucose-6-phosphate dehydrogenase gene causing chronic nonspherocytic hemolytic anemia in an Indian family

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

Hydrops fetalis associated with erythrocyte pyruvate kinase deficiency

Molecular basis of neurological dysfunction coupled with haemolytic anaemia in human glucose-6-phosphate isomerase (GP1) deficiency

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

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

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