the clinical and molecular spectrum of galactosemia in patients from the cape town region of south africa半乳糖血症的临床和分子光谱来自南非的开普敦地区的患者.pdf

BMC Pediatrics BioMed Central BMC Pediatrics x 2002, 2 Research article The clinical and molecular spectrum of galactosemia in patients from the Cape Town region of South Africa 1 1 1 2 Howard Henderson* , Felicity Leisegang , Ruth Brown and Brian Eley Address: 1Department of Chemical Pathology and School of Child and Adolescent Health, Red Cross Childrens Hospital, University of Cape Town, Cape Town, South Africa and 2Dept of Pediatrics, and School of Child and Adolescent Health, Red Cross Childrens Hospital, University of Cape Town, Cape Town, South Africa E-mail: Howard Henderson* - henders@ich.uct.ac.za; Felicity Leisegang - leisegan@ich.uct.ac.za; Ruth Brown - Rbrown@.za; Brian Eley - beley@ich.uct.ac.za *Corresponding author Published: 2 September 2002 Received: 19 July 2002 Accepted: 2 September 2002 BMC Pediatrics 2002, 2:7 This article is available from: /1471-2431/2/7 © 2002 Henderson et al; licensee BioMed Central Ltd. This article is published in Open Access: verbatim copying and redistribution of this article are per- mitted in all media for any non-commercial purpose, provided this notice is preserved along with the articles original URL. Abstract Background: The objective of this study was to document the clinical, laboratory and genetic features of galactosemia in patients from the Cape Town metropolitan region. Methods: Diagnoses were based on thin layer chromatography for galactosuria/galactosemia and assays