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Hematology Volume 11, 2006 - Issue 1
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Haemolytic Anaemias

Hereditary erythrocyte pyrimidine 5′-nucleotidase deficiency: A biochemical, genetic and clinical overview

Laurent R. ChiarelliDepartment of Biochemistry "A. Castellani"University of Pavia, Via Taramelli 3/b, 27100Pavia, Italy; Department of Genetics and Microbiology "A. Buzzati-Traverso,", University of Pavia, Via Ferrata 1, 27100, Pavia, Italy
,
Elisa FermoDepartment of HematologyFondazione IRCCS Ospedale Maggiore, Mangiagalli e Regina Elena, Via Francesco Sforza35, 20122, Milano, Italy
,
Alberto ZanellaDepartment of HematologyFondazione IRCCS Ospedale Maggiore, Mangiagalli e Regina Elena, Via Francesco Sforza35, 20122, Milano, Italy
&
Giovanna ValentiniDepartment of Biochemistry "A. Castellani"University of Pavia, Via Taramelli 3/b, 27100Pavia, Italy; Department of Genetics and Microbiology "A. Buzzati-Traverso,", University of Pavia, Via Ferrata 1, 27100, Pavia, Italy
Pages 67-72 | Published online: 04 Sep 2013

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Iara Dantas de Souza, Abraão Silveira de Andrade & Rodrigo Juliani Siqueira Dalmolin. (2018) Lead-interacting proteins and their implication in lead poisoning. Critical Reviews in Toxicology 48:5, pages 375-386.
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Martin Kirschner, Inga Rebecca Heinen, Steffen Koschmieder, Licinio Manco, Celeste Bento, Thomas Eggermann, Ingo Kurth, Edgar Jost, Tim H. Brümmendorf & Roland Fuchs. (2022) Novel homozygous nonsense mutation in the P5′N‐1 coding gene as an alternative cause for hereditary anemia with basophilic stippling. Clinical Case Reports 10:3.
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Sandrine Marie, Joseph P. Dewulf & Marie-Cécile Nassogne. 2022. Inborn Metabolic Diseases. Inborn Metabolic Diseases 587 614 .
Sultan A. Köker, Yeşim Oymak, Paola Bianchi, Elisa Fermo, Tuba H. Karapinar, Salih Gözmen, Yilmaz Ay & Raziye C. Vergin. (2019) A New Homozygous Mutation (c.393-394del TA/c.393-394del TA) in the NT5C3 Gene Associated With Pyrimidine-5′-Nucleotidase Deficiency: A Case Report. Journal of Pediatric Hematology/Oncology 41:8, pages e484-e486.
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Rachael F. Grace & Bertil Glader. (2018) Red Blood Cell Enzyme Disorders. Pediatric Clinics of North America 65:3, pages 579-595.
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Ellen Crushell & Joe T. R. Clarke. 2017. Inherited Metabolic Diseases. Inherited Metabolic Diseases 401 410 .
Benjamin A. Barasa, Brigitte A. van Oirschot, Paola Bianchi, Wouter W. van Solinge, Albert J. R. Heck, Richard van Wijk & Monique Slijper. (2016) Proteomics reveals reduced expression of transketolase in pyrimidine 5′-nucleotidase deficient patients. PROTEOMICS - Clinical Applications 10:8, pages 859-869.
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Andrey dos Santos, Larissa Elizabeth Cordeiro Dantas, Fabiola Traina, Dulcineia Martins de Albuquerque, Elinton Adami Chaim & Sara T. Olalla Saad. (2014) Pyrimidine-5′-nucleotidase Campinas, a new mutation (p.R56G) in the NT5C3 gene associated with pyrimidine-5′-nucleotidase type I deficiency and influence of Gilbert's Syndrome on clinical expression. Blood Cells, Molecules, and Diseases 53:4, pages 246-252.
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Shanti Balasubramaniam, John A. Duley & John Christodoulou. (2014) Inborn errors of pyrimidine metabolism: clinical update and therapy. Journal of Inherited Metabolic Disease 37:5, pages 687-698.
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Rob van Zwieten, Arthur J. Verhoeven & Dirk Roos. (2014) Inborn defects in the antioxidant systems of human red blood cells. Free Radical Biology and Medicine 67, pages 377-386.
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Alberto Zanella & Edward C Gordon‐Smith. 2010. Postgraduate Haematology. Postgraduate Haematology 140 157 .
Ellen Crushell & Joe T R Clarke. 2010. Inherited Metabolic Diseases. Inherited Metabolic Diseases 233 241 .
Pinar Aksoy, Min Jia Zhu, Krishna R. Kalari, Irene Moon, Linda L. Pelleymounter, Bruce W. Eckloff, Eric D. Wieben, Vivien C. Yee, Richard M. Weinshilboum & Liewei Wang. (2009) Cytosolic 5′-nucleotidase III (NT5C3): gene sequence variation and functional genomics. Pharmacogenetics and Genomics 19:8, pages 567-576.
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Maria Giovanna Careddu, Simone Allegrini, Rossana Pesi, Marcella Camici, Mercedes Garcia-Gil & Maria Grazia Tozzi. (2008) Knockdown of cytosolic 5′-nucleotidase II (cN-II) reveals that its activity is essential for survival in astrocytoma cells. Biochimica et Biophysica Acta (BBA) - Molecular Cell Research 1783:8, pages 1529-1535.
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Laurent R. Chiarelli, Simone M. Morera, Alessandro Galizzi, Elisa Fermo, Alberto Zanella & Giovanna Valentini. (2008) Molecular basis of pyrimidine 5′-nucleotidase deficiency caused by 3 newly identified missense mutations (c.187T>C, c.469G>C and c.740T>C) and a tabulation of known mutations. Blood Cells, Molecules, and Diseases 40:3, pages 295-301.
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M.R. Gardiner, M.M. Gongora, S.M. Grimmond & A.C. Perkins. (2007) A global role for zebrafish klf4 in embryonic erythropoiesis. Mechanisms of Development 124:9-10, pages 762-774.
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