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Extended spectrum of human glucose-6-phosphatase catalytic subunit 3 deficiency: novel genotypes and phenotypic variability in severe congenital neutropenia.
Boztug K, Rosenberg PS, Dorda M, Banka S, Moulton T, Curtin J, Rezaei N, Corns J, Innis JW, Avci Z, Tran HC, Pellier I, Pierani P, Fruge R, Parvaneh N, Mamishi S, Mody R, Darbyshire P, Motwani J, Murray J, Buchanan GR, Newman WG, Alter BP, Boxer LA, Donadieu J, Welte K, Klein C. Boztug K, et al. Among authors: buchanan gr. J Pediatr. 2012 Apr;160(4):679-683.e2. doi: 10.1016/j.jpeds.2011.09.019. Epub 2011 Nov 1. J Pediatr. 2012. PMID: 22050868
Severe hemorrhage in a patient with gray platelet syndrome.
Gootenberg JE, Buchanan GR, Holtkamp CA, Casey CS. Gootenberg JE, et al. Among authors: buchanan gr. J Pediatr. 1986 Dec;109(6):1017-9. doi: 10.1016/s0022-3476(86)80289-x. J Pediatr. 1986. PMID: 3783327 Free article. No abstract available.
336 results