Pyruvate kinase deficiency: novel mutations and a better understanding of the genotype-to-phenotype correlation in Brazilian patients☆
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DOI: 10.1016/j.bjhh.2017.08.009
Abstract: Over the past few years, the inherited disorders of erythrocyte metabolism have been the object of intensive research resulting in a better understanding of their molecular basis.1 Pyruvate kinase (PK) deficiency is the most common… read more here.
Keywords: deficiency novel; pyruvate kinase; better understanding; kinase deficiency ... See more keywords
Acetyl-4′-phosphopantetheine is stable in serum and prevents phenotypes induced by pantothenate kinase deficiency
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DOI: 10.1038/s41598-017-11564-8
Abstract: Coenzyme A is an essential metabolite known for its central role in over one hundred cellular metabolic reactions. In cells, Coenzyme A is synthesized de novo in five enzymatic steps with vitamin B5 as the… read more here.
Keywords: pantothenate kinase; kinase; kinase deficiency; acetyl phosphopantetheine ... See more keywords
Improving the laboratory diagnosis of pyruvate kinase deficiency
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DOI: 10.1111/bjh.17483
Abstract: Pyruvate kinase (PK) deficiency is an autosomal recessive disease caused by mutations in the PKLR gene, which reduce erythrocyte PK enzyme activity and result in decreased energy synthesis in red cells, causing haemolytic anaemia. Historically,… read more here.
Keywords: kinase deficiency; pyruvate kinase; enzyme assay;
Prevalence of pyruvate kinase deficiency: A systematic literature review
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DOI: 10.1111/ejh.13424
Abstract: Pyruvate kinase deficiency (PK deficiency) is a rare disorder caused by compound heterozygosity or homozygosity for > 300 mutations in the PKLR gene. To understand PK deficiency prevalence, we conducted a systematic literature review. read more here.
Keywords: pyruvate kinase; kinase deficiency; deficiency; systematic literature ... See more keywords
The Pyruvate Kinase Deficiency Global Longitudinal (Peak) Registry: rationale and study design
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DOI: 10.1136/bmjopen-2022-063605
Abstract: Introduction Pyruvate kinase (PK) deficiency is a rare, under-recognised, hereditary condition that leads to chronic haemolytic anaemia and potentially serious secondary complications, such as iron overload, cholecystitis, pulmonary hypertension and extramedullary haematopoiesis. It is an… read more here.
Keywords: pyruvate kinase; peak registry; registry; kinase deficiency ... See more keywords
Lack of Prenylated Proteins, Autophagy Impairment and Apoptosis in SH-SY5Y Neuronal Cell Model of Mevalonate Kinase Deficiency
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DOI: 10.1159/000471235
Abstract: Background/Aims: Mevalonate Kinase Deficiency (MKD), is a hereditary disease due to mutations in mevalonate kinase gene (MVK). MKD has heterogeneous clinical phenotypes: the correlation between MVK mutations and MKD clinical phenotype is still to be… read more here.
Keywords: prenylated proteins; kinase deficiency; cell; mevalonate kinase ... See more keywords
A novel homozygous missense variant p.D339N in the PKLR gene correlates with pyruvate kinase deficiency in a Pakistani family: a case report
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DOI: 10.1186/s13256-022-03292-z
Abstract: Pyruvate kinase deficiency is an exceptionally rare autosomal recessive Mendelian disorder caused by bi-allelic pathogenic variants in the PKLR gene. It is mainly characterized by chronic nonspherocytic hemolytic anemia though other symptoms such as splenomegaly,… read more here.
Keywords: kinase; kinase deficiency; pklr gene; pyruvate kinase ... See more keywords
Worldwide study of hematopoietic allogeneic stem cell transplantation in pyruvate kinase deficiency
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DOI: 10.3324/haematol.2017.177857
Abstract: Pyruvate kinase deficiency (PKD) is the most frequent glycolytic enzyme defect causing hereditary non-spherocytic hemolytic anemia.[1][1] PKD leads to energy deprivation of the red cell, ultimately resulting in premature red cell death. Premature red cell… read more here.
Keywords: pyruvate kinase; kinase deficiency; cell;
Untargeted metabolic profiling in dried blood spots identifies disease fingerprint for pyruvate kinase deficiency
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DOI: 10.3324/haematol.2020.266957
Abstract: The diagnostic evaluation and clinical characterization of rare hereditary anemia (RHA) is to date still challenging. In particular, there is little knowledge of the broad metabolic impact of many of the molecular defects underlying RHA.… read more here.
Keywords: pyruvate kinase; blood spots; dried blood; blood ... See more keywords
Interleukin-2-Inducible T-Cell Kinase Deficiency—New Patients, New Insight?
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DOI: 10.3389/fimmu.2018.00979
Abstract: Patients with primary immunodeficiency can be prone to severe Epstein–Barr virus (EBV) associated immune dysregulation. Individuals with mutations in the interleukin-2-inducible T-cell kinase (ITK) gene experience Hodgkin and non-Hodgkin lymphoma, EBV lymphoproliferative disease, hemophagocytic lymphohistiocytosis,… read more here.
Keywords: cell kinase; inducible cell; interleukin inducible; kinase deficiency ... See more keywords