BACKGROUND: Patients with organic acidurias (OAD) and urea cycle disorders (UCD) are at increased risk of disability, impaired quality of life and reduced life expectancy. Clinical care in any one centre is constrained by small patient numbers; and furthermore diagnostic and treatment strategies vary between metabolic centres and countries, resulting in significant inequalities and disparity in patient outcome. AIMS/ METHODS: The overall objective of the EU-funded activity 'European registry and network for intoxication type metabolic diseases' (E-IMD) is to collect systematic data to improve the knowledge of these diseases, to develop consensus care guidelines and to provide detailed information materials for families and professionals. RESULTS: Within three years E-IMD has (1) established a network of 87 partners in 25 countries (2) set up a patient registry of more than 1,000 individuals with OAD and UCD, (3) launched a website ( www.e-imd.org ) including detailed information materials in 11 languages, (4) developed guidelines for OAD and UCD, (5) organised two teaching courses and various scientific meetings, (6) extended the IT platform clustering with other inherited metabolic diseases (IMD) and (7) strengthened the collaboration with other international scientific consortia. CONCLUSIONS: E-IMD has made important steps towards improving and sharing knowledge on OAD and UCD and harmonisation of diagnostic and therapeutic strategies. Through the establishment of a modular patient registry, clustering with other IMD and stepwise extension of the network, E-IMD has implemented the core components of a European Reference Network for rare diseases.
BACKGROUND:Patients with organic acidurias (OAD) and urea cycle disorders (UCD) are at increased risk of disability, impaired quality of life and reduced life expectancy. Clinical care in any one centre is constrained by small patient numbers; and furthermore diagnostic and treatment strategies vary between metabolic centres and countries, resulting in significant inequalities and disparity in patient outcome. AIMS/ METHODS: The overall objective of the EU-funded activity 'European registry and network for intoxication type metabolic diseases' (E-IMD) is to collect systematic data to improve the knowledge of these diseases, to develop consensus care guidelines and to provide detailed information materials for families and professionals. RESULTS: Within three years E-IMD has (1) established a network of 87 partners in 25 countries (2) set up a patient registry of more than 1,000 individuals with OAD and UCD, (3) launched a website ( www.e-imd.org ) including detailed information materials in 11 languages, (4) developed guidelines for OAD and UCD, (5) organised two teaching courses and various scientific meetings, (6) extended the IT platform clustering with other inherited metabolic diseases (IMD) and (7) strengthened the collaboration with other international scientific consortia. CONCLUSIONS: E-IMD has made important steps towards improving and sharing knowledge on OAD and UCD and harmonisation of diagnostic and therapeutic strategies. Through the establishment of a modular patient registry, clustering with other IMD and stepwise extension of the network, E-IMD has implemented the core components of a European Reference Network for rare diseases.
Authors: S Kölker; E Christensen; J V Leonard; C R Greenberg; A B Burlina; A P Burlina; M Dixon; M Duran; S I Goodman; D M Koeller; E Müller; E R Naughten; E Neumaier-Probst; J G Okun; M Kyllerman; R A Surtees; B Wilcken; G F Hoffmann; P Burgard Journal: J Inherit Metab Dis Date: 2007-01-03 Impact factor: 4.982
Authors: Stefan Kölker; Sven F Garbade; Cheryl R Greenberg; James V Leonard; Jean-Marie Saudubray; Antonia Ribes; H Serap Kalkanoglu; Allan M Lund; Begoña Merinero; Moacir Wajner; Mónica Troncoso; Monique Williams; John H Walter; Jaume Campistol; Milagros Martí-Herrero; Melissa Caswill; Alberto B Burlina; Florian Lagler; Esther M Maier; Bernd Schwahn; Aysegul Tokatli; Ali Dursun; Turgay Coskun; Ronald A Chalmers; David M Koeller; Johannes Zschocke; Ernst Christensen; Peter Burgard; Georg F Hoffmann Journal: Pediatr Res Date: 2006-04-26 Impact factor: 3.756
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Authors: Stefan Kölker; Angeles Garcia-Cazorla; Angeles Garcia Cazorla; Vassili Valayannopoulos; Allan M Lund; Alberto B Burlina; Jolanta Sykut-Cegielska; Frits A Wijburg; Elisa Leão Teles; Jiri Zeman; Carlo Dionisi-Vici; Ivo Barić; Daniela Karall; Persephone Augoustides-Savvopoulou; Lise Aksglaede; Jean-Baptiste Arnoux; Paula Avram; Matthias R Baumgartner; Javier Blasco-Alonso; Brigitte Chabrol; Anupam Chakrapani; Kimberly Chapman; Elisenda Cortès I Saladelafont; Maria L Couce; Linda de Meirleir; Dries Dobbelaere; Veronika Dvorakova; Francesca Furlan; Florian Gleich; Wanda Gradowska; Stephanie Grünewald; Anil Jalan; Johannes Häberle; Gisela Haege; Robin Lachmann; Alexander Laemmle; Eveline Langereis; Pascale de Lonlay; Diego Martinelli; Shirou Matsumoto; Chris Mühlhausen; Hélène Ogier de Baulny; Carlos Ortez; Luis Peña-Quintana; Danijela Petković Ramadža; Esmeralda Rodrigues; Sabine Scholl-Bürgi; Etienne Sokal; Christian Staufner; Marshall L Summar; Nicholas Thompson; Roshni Vara; Inmaculada Vives Pinera; John H Walter; Monique Williams; Peter Burgard Journal: J Inherit Metab Dis Date: 2015-04-15 Impact factor: 4.982
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Authors: Jana Heringer; Vassili Valayannopoulos; Allan M Lund; Frits A Wijburg; Peter Freisinger; Ivo Barić; Matthias R Baumgartner; Peter Burgard; Alberto B Burlina; Kimberly A Chapman; Elisenda Cortès I Saladelafont; Daniela Karall; Chris Mühlhausen; Victoria Riches; Manuel Schiff; Jolanta Sykut-Cegielska; John H Walter; Jiri Zeman; Brigitte Chabrol; Stefan Kölker Journal: J Inherit Metab Dis Date: 2015-12-21 Impact factor: 4.982
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