Pyruvate Kinase Deficiency
What's New
Last Posted: Nov 02, 2021
- [Hereditary anaemias].
Glenthøj Andreas et al. Ugeskrift for laeger 2021 183(42) - Untargeted metabolic profiling in dried blood spots identifies disease fingerprint for pyruvate kinase deficiency.
Van Dooijeweert Birgit et al. Haematologica 2020 Sep Online ahead of print - Addressing the diagnostic gaps in pyruvate kinase deficiency: Consensus recommendations on the diagnosis of pyruvate kinase deficiency.
Bianchi Paola et al. American journal of hematology 2019 94(1) 149-161 - Study of pathophysiology and molecular characterization of congenital anemia in India using targeted next-generation sequencing approach.
Kedar Prabhakar S et al. International journal of hematology 2019 Aug - Newborn Screening for Hemoglobinopathies and Red Cell Enzymopathies in Tripura State: A Malaria-Endemic State in Northeast India.
Upadhye Dipti et al. Hemoglobin 2018 Jan 42(1) 43-46 - Screening of hereditary spherocytosis and pyruvate kinase deficiency by automated blood count using erythrocytic and reticulocytic parameters.
Bobée Victor et al. International journal of laboratory hematology 2018 Sep - Targeted next generation sequencing for the diagnosis of patients with rare congenital anemias.
Shefer Averbuch Noa et al. European journal of haematology 2018 May - Hemolytic Anemia
From NHLBI health topic site - Pyruvate kinase deficiency
From NCATS Genetic and Rare Diseases Information Center - Pyruvate kinase deficiency, liver type
From NCATS Genetic and Rare Diseases Information Center
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Content Summary
Selected Rare Diseases
- Alpha-1 Antitrypsin Deficiency
- Amyotrophic Lateral Sclerosis
- Brugada Syndrome
- Cerebral Palsy
- Cystic Fibrosis
- Duchenne Muscular Dystrophy
- Eclampsia
- Erythema Multiforme
- Familial Mediterranean Fever
- Fragile X Syndrome
- Gaucher Disease
- Glomerulonephritis
- Graves Disease
- Hemophilia
- Huntington Disease
- Microcephaly
- Myasthenia Gravis
- Phenylketonuria
- Retinitis Pigmentosa
- Severe Combined Immunodeficiency
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- Page last reviewed:Feb 1, 2024
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