Networking Across Borders for Individuals with Organic Acidurias and Urea Cycle Disorders: The E-IMD Consortium

  • Stefan KölkerEmail author
  • Dries Dobbelaere
  • Johannes Häberle
  • Peter Burgard
  • Florian Gleich
  • Marshall L. Summar
  • Steven Hannigan
  • Samantha Parker
  • Anupam Chakrapani
  • Matthias R. Baumgartner
  • on Behalf of the E-IMD Consortium
Research Report
Part of the JIMD Reports book series (JIMD, volume 22)


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 ( 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.


Rare Disease Newborn Screening Scottish Intercollegiate Guideline Network Organic Aciduria Urea Cycle Disorder 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.



European Agency for Health and Consumers


European network and registry for homocystinurias and methylation defects


European registry and network for intoxication type metabolic diseases


European reference network


European Union Committee of Experts on Rare Diseases


Glutaric aciduria type 1


Inherited metabolic disease


Isovaleric aciduria


Methylmalonic aciduria


Member state


Organic aciduria


Propionic aciduria


Patient organisation


Urea cycle disorder


Urea cycle disorders consortium



This publication arises from the project ‘European registry and network for intoxication type metabolic diseases (E-IMD)’ (EAHC no 2010 12 01) which has received funding from the European Union, in the framework of the Health Programme. After the end of the EU funding period the E-IMD patient registry will be sustained by funding from the Kindness for Kids Foundation (Munich, Germany). MRB and JH are supported by radiz – Rare Disease Initiative Zurich – a clinical research priority programme of the University of Zurich, Switzerland.

We are grateful to the following partners for their valuable contribution to establish the E-IMD consortium and for their fruitful ongoing collaboration (listed in alphabetical order of countries):

Austria: Daniela Karall, Johannes Zschocke and Sabine Scholl-Bürgi (Medizinische Universität Innsbruck, Universitätskinderklinik und Sektionen für Humangenetik und Klinische Genetik, Innsbruck).

Australia: Avihu Boneh (the Murdoch Childrens Research Institute, Royal Children’s Hospital, Melbourne)

Belgium: Francois Eyskens and Tine Maes (Universitair Ziekenhuis Antwerpen, Antwerpen), Linda de Meirleir (University Hospital Vrije Universiteit Brussels, Department of Pediatric Neurology, Brussels), Corinne de Laet (Hôpital Universitaire des Enfants Reine Fabiola, Nutrition and Metabolism Unit, Brussels), Etienne Sokal and Florence Defresne (Université Catholique de Louvain, Clinique Universitaires St. Luc, Brussels), Dominique Roland (Institute of Pathology and Genetics, Center for Inherited Metabolic Diseases, Gosselies), Guillaume Debray (Centre Hospitalier Universitaire, Department of Genetics, Liège) and Lut de Baere and Nathalie Stroobant [Belgische Organisatie voor Kinderen en Volwassenen met een Stofwisselingsziekte VZW (BOKS), Melsele, PO group]

Canada: Cheryl R. Greenberg (University of Manitoba, Department of Pediatrics and Child Health, Department of Biochemistry and Medical Genetics, Winnipeg)

Croatia: Ivo Baric, Mario Cuk and Slobodan Galic (Sveuciliste u Zagrebu, Medicinski fakultet, University Hospital Centre, Department of Pediatrics, Zagreb) and Nelia Caric (Hrvatska udruga za rijetke bolesti, PO group)

Czech Republic: Jiri Zeman and Tomas Honzik (Charles University of Prague, First Faculty of Medicine, Department of Pediatrics, Prague)

Denmark: Allan M. Lund, Ernst Christensen, Lise Aksglaede and Malene Bøgehus Rasmussen (Rigshospitalet, Centre for Inherited Metabolic Diseases, Department of Clinical Genetics, Copenhagen) and Annika and Kennet Rovsing (PND – Protein Nedbrydnings Defekt foreningen, PO group)

France: Vassili Valayannopoulos, Jean-Baptiste Arnoux, Pascale de Lonlay, Ulf Aringer, Kim-Hanh Le Quan Sang and Eric Bauchart (Hôpital Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris, Reference Center for Inherited Metabolic Disease, Necker-Enfants Malades University Hospital and Imagine Institute, Paris); Hélène Ogier de Baulny (Centre de Référence Maladies Héréditaires du Metabolisme, Hôpital Robert Debré, Université Paris VII, Paris); Brigitte Chabrol (Centre de Référence Maladies Héréditaires du Metabolisme, Hôpital d’Enfants Service de Neurologie, Marseille); Pierre Broue (Centre de Référence Maladies Héréditaires du Metabolisme, Hôpital des Enfants – CHU Toulouse, Toulouse); EURORDIS, European Organisation for Rare Disease (Paris); and Orphan Europe SARL (Paris)

Germany: S. P. Nikolas Boy, Corinna Bürger, Esther M. Glahn, Friederike Hörster, Gisela Haege, Jana Heringer, Marina A. Morath, Roland Posset, Christian Staufner, Kathrin Zangerl and Matthias Zielonka (Universitätsklinikum Heidelberg, Zentrum für Kinder- und Jugendmedizin, Kinderklinik I); Chris Mühlhausen and René Santer (Universitätsklinikum Hamburg-Eppendorf, Klinik für Kinder- und Jugendmedizin, Hamburg); Regina Ensenauer (Ludwig-Maximilian-Universität München, Dr. von Haunersches Kinderspital, München); Thomas Meissner (Universitätsklinikum Düsseldorf, Zentrum für Kinder- und Jugendmedizin, Düsseldorf); Peter Freisinger (Klinik für Kinder- und Jugendmedizin, Klinikum am Steinenberg, Reutlingen); Sarah Grünert and Ute Spiekerkötter (Universitätsklinikum Freiburg, Zentrum für Kinder- und Jugendmedizin, Freiburg); Martin Lindner (Universitätsklinikum Frankfurt, Klinik für Kinder- und Jugendmedizin, Frankfurt); Markus Ott and Beate Szczerbak (Nutricia Metabolics GmbH, Friedrichsdorf); Hubertus von Voss and Raimund Schmid (Kindernetzwerk e.V., Aschaffenburg); Mandy Kretschmer (Glutarazidurie e.V.); and Reinhild Link (Wiesbaden, representing the SSIEM Dieticians Group)

Greece: Persephone Augoustides-Savvopoulou and Harikleia Ioannou (University A’Pediatric Department, Metabolic Laboratory, ‘Hippokration’ General Hospital of Thessaloniki, Thessaloniki, and KRIKOS ZOIS, PO group), Evriki Drogari (University of Athens, Aghia Sophia Children’s Hospital, Unit of Metabolic Diseases, Athens) and Zarifis Dimitroulis (KRIKOS ZOIS – Society for Patients and Friends of Patients with Inherited Metabolic diseases, PO group)

India: Anil Jalan (N.I.R.M.A.N., Om Rachna Society, Mumbai)

Italy: Alberto B. Burlina, Andrea Bordugo and Francesca Furlan (Azienda Ospedaliera di Padova, U.O.C. Malattie Metaboliche Ereditarie, Dipartimento di Pediatria, Padova); Carlo Dionisi-Vici and Diego Martinelli (Ospedale Pediatrico Bambino Gesù, U.O.C. Patologia Metabolica, Rome); Renza Barbon Galluppi (UNIAMO FIMR, PO group); and Susan Udina (COMETA ASMME – Associazione Studio Malattie Metaboliche Ereditarie – ONLUS, PO group)

Japan: Fumio Endo and Shirou Matsumoto (Kumamoto University Hospital, Department of Pedatrics, Kumamoto, and representing the Japanese Urea Cycle Disorders Consortium)

Netherlands: Frits A. Wijburg and Eveline Langereis (Academisch Medisch Centrum, Department of Pediatrics, Amsterdam), Monique Williams (Erasmus Universiteit Rotterdam, Erasmus MC-Sophia Kinderziekenhuis, Rotterdam) and Hanka Meutgeert (Volwassenen en Kinderen met Stofwisselingsziekten [VKS], Zwolle, PO group)

Poland: Jolanta Sykut-Cegielska (Institute of Mother and Child, Screening Department, Warsaw) and Wanda Gradowska (Instytut ‘Pomnik-Centrum Zdrowia Dziecka’, The Children’s Memorial Health Institute, Department of Metabolic Diseases, Endocrinology and Diabetology, Warsaw)

Portugal: Elisa Teles Leao, Susana Soares and Esmeralda Rodrigues (Unidade de Doenças Metabólicas, Serviço de Pediatria, Hospital de S. João, EPE, Porto); Laura Vilarinho (Newborn Screening Unit, Metabolic Genetics Center, National Institute of Health [INSA], Porto); Ana Gaspar (Unidade de Doenças Metabólicas, Serviço de Pediatria Hospital Santa Maria Lisboa, Lisbon); Isabel Tavares de Almeida (Faculdade de Farmácia da Universidade de Lisboa, Lisbon); Vanessa Ferreira (Associação Portuguesa CDG, PO group); Miguel Macedo (Apofen, PO group); and Sérgio Braz Antão (Rarrisimas, PO group)

Republic of Serbia: Adrijan Sarajlija and Maja Djordjevic (Institut za zdravstvenu zaštitu majke i deteta Srbije, Belgrade)

Romania: Paula Avram (Institute for Mother and Child Care ‘Alfred Rusescu’, Bucharest)

Spain: Juan-Luque Moreno (CIBERER, Centro de Investigacíon Biomédica en Red de Enfermedades Raras); Angeles Garcia-Cazorla, Jaume Campistol, Carlos Ortez and Elisenda Cortès i Saladelafont (Hospital Sant Joan de Deu, Servicio de Neurologica, Barcelona); Elena Balmaseda and M. Carmen Carrascosa (Complejo Hospitalario Universitario de Albacete, Albacete); Guillem Pintos-Morell (University hospital ‘German Trias i Pujol’, Badalona); Antonia Ribes (Institut Bioquimica Clinica, Corporacio Sanitaria Clinic, Barcelona); Eduardo Lopéz (Pediatric Neurology Unit Department of Pediatrics, University Hospital Reina Sofia, Cordoba); Immaculada Vives and David Gil Ortega (Hospital Virgen de la Arrixaca de Murcia, El Palmar); Juana Maria de Haro Catellano (Secretaria Tecnica del CEI-Granada (HUVN), Edificio Licinio de la Fuente, Granada); Luis Pena-Quintana (Hospital Universitario Materno-Infantil de Canarias, Universidad de Las Palmas de Gran Canaria, Las Palmas de Gran Canaria); Magdalena Ugarte and Begona Merinero (Universidad Autonoma de Madrid, Madrid); Consuelo Pedròn-Giner (Hospital Infantil Universitario Niño Jesús, Sección de Gastroenterología y Nutrición, Madrid); Javier Blasco-Alonso (Hospital Materno-Infantil de Malaga, Unidad de Gastroenterologia, Hepatologia, Nutricion y Metabolopatias, Malaga); Angeles Ruiz Gómez (Hospital Universitario Son Espases, Palma de Mallorca); Maria L. Couce (Hospital Clinico Universitario de Santiago de Compostela, Santiago de Compostela); Vicente Rubio (Instituto de Biomedicina de Valencia, Valencia); and Sergi Faber (Catalana de Trastorns Metabòlics Hereditaris, PO group)

Sweden: Sofia Nordin (Swedish Orphan Biovitrum AB [SOBI], Stockholm)

Switzerland: Jörn-Oliver Sass (Kinderspital Zürich, Universitäts-Kinderkliniken, Eleonoren-Stiftung, Department of Clinical Chemistry and Biochemistry, Zürich) and Jean-Marc Nuoffer (Universitätsspital Bern, Universitätsklinik für Kinderheilkunde, Bern)

Taiwan: Wu-Liang Hwu, Yin-Hsiu Chien and Ni-Chung Lee (National Taiwan University Hospital, Department of Medical Genetics, Taipei)

Turkey: Mübeccel Demirkol and Gülden Gökcay (Istanbul University, Children’s Hospital, Department of Nutrition and Metabolism, Istanbul)

UK: Victoria Riches (Birmingham Children’s Hospital NHS Foundation Trust, Birmingham); CLIMB, Children Living with Inherited Metabolic Diseases, National Information Centre for Metabolic Diseases (Crewe); Stephanie Grünewald and Nick Thompson (Great Ormond Street Hospital for Children NHS Trust, London); Robin Lachmann and Elaine Murphy (National Hospital for Neurology and Neurosurgery, Charles Dent Metabolic Unit, London, and representing the SSIEM Adult Metabolic Group); Roshni Vara (Evelina Children’s Hospital, St Thomas’ Hospital, Department of Inherited Metabolic Disease, London); John Walter and Andrew Morris (Central Manchester and Manchester Children’s University Hospital, Willink Biochemical Genetics Unit, Manchester); Bradford Teaching Hospitals NHS Trust, St Luke’s Hospital (Bradford); and EMDA, the European Metabolic Disorders Alliance (PO group)

USA: Kimberly Chapman (Children’s National Medical Center, Center for Genetic Medicine Research, Washington DC, and representing the Urea Cycle Disorders Consortium) and Jerry Vockley (Children’s Hospital of Pittsburgh of UPMC, Pittsburgh)


  1. Bachmann C (2003) Outcome and survival of 88 patients with urea cycle disorders: a retrospective evaluation. Eur J Pediatr 162:410–416PubMedCrossRefGoogle Scholar
  2. Baumgartner MR, Hörster F, Assoun M et al (2014) Suggested guidelines for the diagnosis and management of methylmalonic and propionic acidemias. Orphanet J Rare Dis 9:130PubMedCentralPubMedCrossRefGoogle Scholar
  3. Bickel H, Gerrard J, Hickmans EM (1953) Influence of phenylalanine intake on phenylketonuria. Lancet 2:812–813Google Scholar
  4. Blau N, Bélanger-Quintana A, Demirkol M et al (2010) Management of phenylketonuria in Europe: survey results from 19 countries. Mol Genet Metab 99:109–115PubMedCrossRefGoogle Scholar
  5. Boy N, Haege G, Heringer J et al (2013) Low lysine diet in glutaric aciduria type I – effect on anthropometric and biochemical follow-up parameters. J Inherit Metab Dis 36:525–533PubMedCrossRefGoogle Scholar
  6. Brimley CJ, Lopez J, van Haren K et al (2013) National variation in costs and mortality for leukodystrophy patients in US children’s hospitals. Pediatr Neurol 49:156–162PubMedCentralPubMedCrossRefGoogle Scholar
  7. Burgard P (2000) Development of intelligence in early treated phenylketonuria. Eur J Pediatr 159(Suppl 2):S74–S79PubMedCrossRefGoogle Scholar
  8. Camp KM, Parisi MA, Acosta PB et al (2014) Phenylketonuria scientific review conference: state of the science and future research needs. Mol Genet Metab pii:S1096–7192(14)00085-7. doi: 10.1016/j.ymgme.2014.02.013
  9. Chapman KA, Gropman A, MacLeod E et al (2012) Acute management of propionic acidemia. Mol Genet Metab 105:16–25PubMedCentralPubMedCrossRefGoogle Scholar
  10. Commission of the European Communities (2008) Communication from the Commission to the European Parliament, the Council, the European Economic and Social Committee and the Committee of the regions.
  11. Enns GM, Berry SA, Berry GT, Rhead WJ, Brusilow SW, Hamosh A (2007) Survival after treatment with phenylacetate and benzoate for urea-cycle disorders. N Engl J Med 356:2282–2292PubMedCrossRefGoogle Scholar
  12. European Union Committee of Experts on Rare Diseases (2011) EUCERD/EMA workshop report: Towards a public-private partnership in the field of registries for rare diseases.
  13. European Union Committee of Experts on Rare Diseases (2013) EUCERD recommendations on rare disease European Reference Networks (RD ERNS).
  14. Grünert SC, Wendel U, Lindner M et al (2012) Clinical and neurocognitive outcome in symptomatic isovaleric acidemia. Orphanet J Rare Dis 7:9PubMedCentralPubMedCrossRefGoogle Scholar
  15. Grünert SC, Müllerleile S, De Silva L et al (2013) Propionic acidemia: clinical course and outcome in 55 pediatric and adolescent patients. Orphanet J Rare Dis 8:6PubMedCentralPubMedCrossRefGoogle Scholar
  16. Häberle J, Huemer M (2015) Evaluation of implementation, adaptation and use of the recently proposed urea cycle disorders guidelines. J Inherit Metab Dis (Reports), doi: 10.1007/8904_2014_387
  17. Häberle J, Boddaert N, Burlina A et al (2012) Suggested guidelines for the diagnosis and management of urea cycle disorders. Orphanet J Rare Dis 7:32PubMedCentralPubMedCrossRefGoogle Scholar
  18. Heringer J, Boy SP, Ensenauer R et al (2010) Use of guidelines improves the neurological outcome in glutaric aciduria type I. Ann Neurol 68:743–752PubMedCrossRefGoogle Scholar
  19. Hörster F, Baumgartner MR, Viardot C et al (2007) Long-term outcome in methylmalonic acidurias is influenced by the underlying defect (mut0, mut-, cblA, cblB). Pediatr Res 62:225–230PubMedCrossRefGoogle Scholar
  20. Kasper DC, Ratschmann R, Metz TF et al (2010) The national newborn screening program – eight years experience with mass spectrometry. Past, present and future goals. Wien Klin Wochenschr 122:607–613PubMedCrossRefGoogle Scholar
  21. Kido J, Nakamura K, Mitsubuchi H et al (2012) Long-term outcome and intervention of urea cycle disorders in Japan. J Inherit Metab Dis 35:777–785PubMedCrossRefGoogle Scholar
  22. Kölker S, Garcia Cazorla A, Valayannopoulos V et al (2015a) The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: The initial presentation. J Inherit Metab Dis. doi: 10.1007/s10545-015-9817-9
  23. Kölker S, Valayannopoulos V, Garcia Cazorla A et al (2015b) The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: The initial presentation. J Inherit Metab Dis. doi: 10.1007/s10545-015-9818-8
  24. Kölker S, Garbade SF, Greenberg CR et al (2006) Natural history, outcome, and treatment efficacy in children and adults with glutaryl-CoA dehydrogenase deficiency. Pediatr Res 59:840–847PubMedCrossRefGoogle Scholar
  25. Kölker S, Christensen E, Leonard JV et al (2007a) Guideline for the diagnosis and management of glutaryl-CoA dehydrogenase deficiency (glutaric aciduria type I). J Inherit Metab Dis 30:5–22PubMedCrossRefGoogle Scholar
  26. Kölker S, Garbade SF, Boy N et al (2007b) Decline of acute encephalopathic crises in children with glutaryl-CoA dehydrogenase deficiency identified by newborn screening in Germany. Pediatr Res 62:225–260PubMedCrossRefGoogle Scholar
  27. Kölker S, Christensen E, Leonard JV et al (2011) Diagnosis and management of glutaric aciduria type I – revised recommendations. J Inherit Metab Dis 34:677–694PubMedCentralPubMedCrossRefGoogle Scholar
  28. Levy HL, Milanowski A, Chakrapani A et al (2007) Efficacy of sapropterin dihydrochloride (tetrahydrobiopterin, 6R-BH4) for reduction of phenylalanine concentration in patients with phenylketonuria: a phase III randomised placebo-controlled study. Lancet 370:504–510PubMedCrossRefGoogle Scholar
  29. Linertová R, Serrano-Aguilar P, Posada-de-la-Paz M et al (2012) Delphi approach to select rare diseases for a European representative survey. The BURQOL-RD study. Health Policy 108:19–26PubMedCrossRefGoogle Scholar
  30. López-Bastida J, Perestelo-Pérez L, Montón-Alvarez F, Serrano-Aguilar P (2008) Social economic costs and health-related quality of life in patients with degenerative cerebellar ataxia in Spain. Mov Disord 23:212–217PubMedCrossRefGoogle Scholar
  31. López-Bastida J, Perestelo-Pérez L, Montón-Alvarez F, Serrano-Aguilar P, Alfonso-Sanchez JL (2009) Social economic costs and health-related quality of life in patients with amyotrophic lateral sclerosis in Spain. Amyotroph Lateral Scler 10:237–243PubMedCrossRefGoogle Scholar
  32. Nassogne MC, Héron B, Touati G, Rabier D, Saudubray JM (2005) Urea cycle defects: management and outcome. J Inherit Metab Dis 28:407–414PubMedCrossRefGoogle Scholar
  33. Pena L, Franks J, Chapman KA et al (2012) Natural history of propionic acidemia. Mol Genet Metab 105:5–9PubMedCrossRefGoogle Scholar
  34. Rüegger CM, Lindner M, Ballhausen D et al (2014) Cross-sectional observational study of 208 patients with non-classical urea cycle disorders. J Inherit Metab Dis 37:21–30PubMedCentralPubMedCrossRefGoogle Scholar
  35. Schulze A, Lindner M, Kohlmüller D, Olgemöller K, Mayatepek E, Hoffmann GF (2003) Expanded newborn screening for inborn errors of metabolism by electrospray ionization-tandem mass spectrometry: results, outcome, and implications. Pediatrics 111:1399–1406PubMedCrossRefGoogle Scholar
  36. Seminara J, Tuchman M, Krivitzky L et al (2010) Establishing a consortium for the study of rare diseases: The Urea Cycle Disorders Consortium. Mol Genet Metab 100:S97–S105PubMedCentralPubMedCrossRefGoogle Scholar
  37. Strauss KA, Puffenberger EG, Robinson DL, Morton DH (2003) Type I glutaric aciduria, part 1: natural history of 77 patients. Am J Med Genet C Semin Med Genet 121C:38–52Google Scholar
  38. Summar ML, Dobbelaere D, Brusilow S, Lee B (2008) Diagnosis, symptoms, frequency and mortality of 260 patients with urea cycle disorders from a 21-year, multi-centre study of acute hyperammonaemic episodes. Acta Paediatr 97:1420–1425PubMedCentralPubMedCrossRefGoogle Scholar
  39. Summar ML, Kölker S, Freedenberg D et al (2013) The incidence of urea cycle disorders. Mol Genet Metab 110:179–180PubMedCentralPubMedCrossRefGoogle Scholar
  40. The European Parliament and the Council of the European Union (2011) Directive 2011/24/EU of the European Parliament and of the Council of 9 March 2011 on the application of patients’ rights in cross-border healthcare. Official J Eur Union L 88/45:1–21.
  41. Vockley J, Chapman KA, Arnold GL (2013) Development of clinical guidelines for inbron errors of metabolism: commentary. Mol Genet Metab 108:203–205PubMedCrossRefGoogle Scholar
  42. Wilcken B, Wiley V, Hammond J, Carpenter K (2003) Screening methods for inborn errors of metabolism by tandem mass spectrometry. N Engl J Med 348:2304–2312PubMedCrossRefGoogle Scholar
  43. Wraith JE, Clarke LA, Beck M et al (2004) Enzyme replacement therapy for mucopolysaccharidosis I: a randomized, double-blinded, placebo-controlled, multinational study of recombinant human alpha-L-iduronidase (laronidase). J Pediatr 144:581–588PubMedCrossRefGoogle Scholar
  44. Yi S, Singh RH (2008) Protein substitute for children and adults with phenylketonuria. Cochrane Database Syst Rev 4, CD004731PubMedGoogle Scholar

Copyright information

© SSIEM and Springer-Verlag Berlin Heidelberg 2015

Authors and Affiliations

  • Stefan Kölker
    • 1
    Email author
  • Dries Dobbelaere
    • 2
  • Johannes Häberle
    • 3
  • Peter Burgard
    • 1
  • Florian Gleich
    • 1
  • Marshall L. Summar
    • 4
  • Steven Hannigan
    • 5
  • Samantha Parker
    • 6
  • Anupam Chakrapani
    • 7
  • Matthias R. Baumgartner
    • 3
  • on Behalf of the E-IMD Consortium
  1. 1.Division of Inherited Metabolic Diseases, Department of General PediatricsUniversity Children’s Hospital HeidelbergHeidelbergGermany
  2. 2.Centre de Référence des Maladies Héréditaires du Métabolisme de l’Enfant et de l’Adulte, Hôpital Jeanne de FlandreLilleFrance
  3. 3.Division of Metabolism and Children’s Research CentreUniversity Children’s Hospital ZurichZurichSwitzerland
  4. 4.Children’s National Medical CenterWashington, DCUSA
  5. 5.CLIMB, National Information Centre for Metabolic DiseasesCreweUK
  6. 6.Orphan Europe SarlParis La DéfenseFrance
  7. 7.Birmingham Children’s Hospital NHS Foundation TrustBirminghamUK

Personalised recommendations