caa a22 4500 467932557 CHVBK 20180406152947.0 cr unu---uuuuu 170328e20060201xx s 000 0 eng 10.1007/s10545-006-0118-1 doi (NATIONALLICENCE)springer-10.1007/s10545-006-0118-1 A study on the nature of genetic metabolic practice at a major paediatric referral centre [Elektronische Daten] [H. Glass, A. Feigenbaum, J. Clarke] Summary: A retrospective chart review of new paediatric patients seen during the calendar year 1998 by specialists of the Division of Clinical and Metabolic Genetics of the Hospital for Sick Children in Toronto, the largest such referral centre in the country, showed that 81% of specific genetic metabolic diagnoses were made within one month of being seen in consultation by one of the consultants of the programme. In 5% of cases, a specific diagnosis was not reached 4 years after initial consultation. We concluded from this study that the specific diagnosis of inborn errors of metabolism at a major medical genetic referral centre tended to be made quickly, or never. Some of the causes of delays in diagnosis include (1) the lack of ready access to existing diagnostic laboratory testing; (2) technical barriers to the identification of specific metabolic or genetic defects; and (3) incomplete knowledge of genetic defects causing inherited metabolic diseases. SSIEM and Springer, 2006 Glass H. Division of Pediatric Neurology, Alberta Children's Hospital, University of Calgary, Alberta aut Feigenbaum A. Division of Clinical & Metabolic Genetics, Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada aut Clarke J. Division of Clinical & Metabolic Genetics, Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada aut Journal of Inherited Metabolic Disease Kluwer Academic Publishers 29/1(2006-02-01), 175-178 0141-8955 29:1<175 2006 29 10545 https://doi.org/10.1007/s10545-006-0118-1 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/s10545-006-0118-1 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Glass H. Division of Pediatric Neurology, Alberta Children's Hospital, University of Calgary, Alberta aut NATIONALLICENCE 700 1- Feigenbaum A. Division of Clinical & Metabolic Genetics, Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada aut NATIONALLICENCE 700 1- Clarke J. Division of Clinical & Metabolic Genetics, Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada aut NATIONALLICENCE 773 0- Journal of Inherited Metabolic Disease Kluwer Academic Publishers 29/1(2006-02-01), 175-178 0141-8955 29:1<175 2006 29 10545 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer