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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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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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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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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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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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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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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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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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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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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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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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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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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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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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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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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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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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A novel single-base mutation in the glucose 6-phosphate dehydrogenase gene is associated with chronic non-spherocytic haemolytic anaemia

Human genetics, 1994-11, Vol.94 (5), p.560-562

1994

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A new glucose-6-phosphate dehydrogenase variant with congenital nonspherocytic hemolytic anemia (G6PD Genova): biochemical characterization and mosaicism expression in the heterozygote

Human genetics, 1990-03, Vol.84 (4), p.337-340

1990

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Chronic nonspherocytic hemolytic anemia (CNSHA) and glucose 6 phosphate dehydrogenase (G6PD) deficiency in a patient with familial amyloidotic polyneuropathy (FAP): molecular study of a new variant (G6PD Clinic) with markedly acidic pH optimum

Human genetics, 1989, Vol.81 (2), p.161-164

1989

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G-6-PD Guadalajara. A new mutant associated with chronic nonspherocytic hemolytic anemia

Human genetics, 1982-01, Vol.61 (2), p.175-176

1982

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

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

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

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

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

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

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

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

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

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

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

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

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

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

Hydrops fetalis associated with erythrocyte pyruvate kinase deficiency

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

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

A novel single-base mutation in the glucose 6-phosphate dehydrogenase gene is associated with chronic non-spherocytic haemolytic anaemia

A new glucose-6-phosphate dehydrogenase variant with congenital nonspherocytic hemolytic anemia (G6PD Genova): biochemical characterization and mosaicism expression in the heterozygote

Chronic nonspherocytic hemolytic anemia (CNSHA) and glucose 6 phosphate dehydrogenase (G6PD) deficiency in a patient with familial amyloidotic polyneuropathy (FAP): molecular study of a new variant (G6PD Clinic) with markedly acidic pH optimum

G-6-PD Guadalajara. A new mutant associated with chronic nonspherocytic hemolytic anemia

Enzymopenic hemolytic anemia in an Austrian family

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