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van Wijk, Richard; van Solinge, Wouter W; Nerlov, Claus et al. (2003) Disruption of a novel regulatory element in the erythroid-specific promoter of the human PKLR gene causes severe pyruvate kinase deficiency. Blood 101:1596-602
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Corrons, Joan-Lluis Vives; Garcia, Estefania; Tusell, Joan J et al. (2003) Red cell adenylate kinase deficiency: molecular study of 3 new mutations (118G>A, 190G>A, and GAC deletion) associated with hereditary nonspherocytic hemolytic anemia. Blood 102:353-6
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Beutler, Ernest; Vulliamy, Tom J (2002) Hematologically important mutations: glucose-6-phosphate dehydrogenase. Blood Cells Mol Dis 28:93-103
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Herschel, Marguerite; Karrison, Theodore; Wen, Ming et al. (2002) Isoimmunization is unlikely to be the cause of hemolysis in ABO-incompatible but direct antiglobulin test-negative neonates. Pediatrics 110:127-30
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Beutler, Ernest; Gelbart, Terri; Miller, William (2002) Severe jaundice in a patient with a previously undescribed glucose-6-phosphate dehydrogenase (G6PD) mutation and Gilbert syndrome. Blood Cells Mol Dis 28:104-7
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Beutler, Ernest; West, Carol (2002) Polymorphisms in glucosylceramide (glucocerebroside) synthase and the Gaucher disease phenotype. Isr Med Assoc J 4:986-8
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Lee, P L; Halloran, C; Trevino, R et al. (2001) Human transferrin G277S mutation: a risk factor for iron deficiency anaemia. Br J Haematol 115:329-33
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Lee, P L; Halloran, C; Beutler, E (2001) Polymorphisms in the transferrin 5' flanking region associated with differences in total iron binding capacity: possible implications in iron homeostasis. Blood Cells Mol Dis 27:539-48
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Herschel, M; Beutler, E (2001) Low glucose-6-phosphate dehydrogenase enzyme activity level at the time of hemolysis in a male neonate with the African type of deficiency. Blood Cells Mol Dis 27:918-23
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Beutler, E (2001) Discrepancies between genotype and phenotype in hematology: an important frontier. Blood 98:2597-602
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Showing the most recent 10 out of 138 publications
