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Model systems in SDHx-related pheochromocytoma/paraganglioma.
- Published in:
- Cancer & Metastasis Reviews, 2021, v. 40, n. 4, p. 1177, doi. 10.1007/s10555-021-10009-z
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- Publication type:
- Article
The cation‐leaky hereditary stomatocytosis syndromes: A tale of six proteins.
- Published in:
- British Journal of Haematology, 2023, v. 203, n. 4, p. 509, doi. 10.1111/bjh.19093
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- Publication type:
- Article
A critical role for altered red cell cation permeability in pathogenesis of sickle cell disease and other haemolytic anaemias.
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- British Journal of Haematology, 2023, v. 202, n. 3, p. 462, doi. 10.1111/bjh.18832
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- Publication type:
- Article
Monovalent cation leaks in human red cells caused by single amino-acid substitutions in the transport domain of the band 3 chloride-bicarbonate exchanger, AE1.
- Published in:
- Nature Genetics, 2005, v. 37, n. 11, p. 1258, doi. 10.1038/ng1656
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- Publication type:
- Article
A second locus mapping to 2q35-36 for familial pseudohyperkalaemia.
- Published in:
- European Journal of Human Genetics, 2004, v. 12, n. 12, p. 1073, doi. 10.1038/sj.ejhg.5201280
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- Publication type:
- Article
A novel stomatocytosis variant showing marked abnormalities in intracellular [Na] and [K] with minimal haemolysis.
- Published in:
- European Journal of Haematology, 2001, v. 66, n. 6, p. 412, doi. 10.1034/j.1600-0609.2001.066006412.x
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- Publication type:
- Article
Pyroglutamate acidosis 2023. A review of 100 cases.
- Published in:
- Clinical Medicine, 2024, v. 24, n. 2, p. 1, doi. 10.1016/j.clinme.2024.100030
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- Publication type:
- Article
Lessons of the month: Pyroglutamic acidosis: long-term paracetamol and a high anion gap.
- Published in:
- Clinical Medicine, 2020, v. 20, n. 5, p. 522, doi. 10.7861/clinmed.2020-0363
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- Publication type:
- Article
An MBPhD programme in the UK: the UCL experience.
- Published in:
- 2012
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- Publication type:
- Journal Article
An MBPhD programme in the UK: the UCL experience.
- Published in:
- Clinical Medicine, 2012, v. 12, n. 6, p. 526, doi. 10.7861/clinmedicine.12-6-526
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- Publication type:
- Article
Familial pseudohyperkalemia in blood donors: a novel mutation with implications for transfusion practice.
- Published in:
- Transfusion, 2014, v. 54, n. 12, p. 3043, doi. 10.1111/trf.12757
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- Publication type:
- Article
Temperature effects on cation transport in hereditary stomatocytosis and allied disorders.
- Published in:
- International Journal of Experimental Pathology, 1999, v. 80, n. 5, p. 251, doi. 10.1046/j.1365-2613.1999.00120.x
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- Publication type:
- Article
South-east Asian ovalocytosis and the cryohydrocytosis form of hereditary stomatocytosis show virtually indistinguishable cation permeability defects.
- Published in:
- British Journal of Haematology, 2011, v. 152, n. 5, p. 655, doi. 10.1111/j.1365-2141.2010.08454.x
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- Publication type:
- Article
Mediterranean stomatocytosis/macrothrombocytopenia: update from Adelaide, Australia.
- Published in:
- 2006
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- Publication type:
- Letter
Stomatin is mis-trafficked in the erythrocytes of overhydrated hereditary stomatocytosis, and is absent from normal primitive yolk sac-derived erythrocytes.
- Published in:
- British Journal of Haematology, 2005, v. 131, n. 2, p. 265, doi. 10.1111/j.1365-2141.2005.05742.x
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- Publication type:
- Article
Stomatocytic haemolysis and macrothrombocytopenia (Mediterranean stomatocytosis/macrothrombocytopenia) is the haematological presentation of phytosterolaemia.
- Published in:
- British Journal of Haematology, 2005, v. 130, n. 2, p. 297, doi. 10.1111/j.1365-2141.2005.05599.x
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- Publication type:
- Article
Dehydrated hereditary stomatocytosis is associated with neonatal hepatitis.
- Published in:
- British Journal of Haematology, 2004, v. 126, n. 2, p. 272, doi. 10.1111/j.1365-2141.2004.05037.x
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- Publication type:
- Article
Four new cases of stomatin-deficient hereditary stomatocytosis syndrome: association of the stomatin-deficient cryohydrocytosis variant with neurological dysfunction.
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- British Journal of Haematology, 2004, v. 125, n. 6, p. 796, doi. 10.1111/j.1365-2141.2004.04965.x
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- Publication type:
- Article
Cold storage of ‘cryohydrocytosis’ red cells: the osmotic susceptibility of the cold-stored erythrocyte.
- Published in:
- British Journal of Haematology, 2003, v. 122, n. 5, p. 859, doi. 10.1046/j.1365-2141.2003.04487.x
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- Publication type:
- Article
Familial pseudohyperkalaemia Cardiff: a mild version of cryohydrocytosis.
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- British Journal of Haematology, 2002, v. 117, n. 1, p. 212, doi. 10.1046/j.1365-2141.2002.03376.x
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- Publication type:
- Article
Two further British families with the ‘cryohydrocytosis’ form of hereditary stomatocytosis.
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- British Journal of Haematology, 2001, v. 113, n. 4, p. 932, doi. 10.1046/j.1365-2141.2001.02792.x
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- Publication type:
- Article
Familial pseudohyperlaemia Chiswick: a novel congenital thermotropic variant of K and Na transport across the human red cell membrane.
- Published in:
- British Journal of Haematology, 2001, v. 112, n. 2, p. 469, doi. 10.1046/j.1365-2141.2001.02564.x
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- Publication type:
- Article
Characterization of red cell membrane proteins as a function of red cell density:: Annexin VII in different forms of hereditary spherocytosis
- Published in:
- FEBS Letters, 2006, v. 580, n. 28/29, p. 6527, doi. 10.1016/j.febslet.2006.10.070
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- Publication type:
- Article
Two British families with variants of the ‘cryohydrocytosis’ form of hereditary stomatocytosis.
- Published in:
- British Journal of Haematology, 1999, v. 105, n. 4, p. 1055, doi. 10.1046/j.1365-2141.1999.01444.x
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- Publication type:
- Article
A variant of hereditary stomatocytosis with marked pseudohyperkalaemia.
- Published in:
- British Journal of Haematology, 1999, v. 104, n. 2, p. 275, doi. 10.1046/j.1365-2141.1999.01191.x
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- Publication type:
- Article
THROMBO-EMBOLIC DISEASE AFTER SPLENECTOMY FOR HEREDITARY STOMATOCYTOSIS.
- Published in:
- British Journal of Haematology, 1996, v. 93, n. 2, p. 303, doi. 10.1046/j.1365-2141.1996.4881033.x
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- Publication type:
- Article