Health Care Providers
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Landeskrankenhaus Salzburg-University Hospital Paracelsus Medical University
Landeskrankenhaus Salzburg - Universitätsklinikum der PMU
HCP Representative: Saskia Wortmann
University Hospital Graz
Landeskrankenhaus-Universitätsklinikum Graz
HCP Representative: Barbara Plecko
University Hospital Liège
CHU de Liège - Maladies métaboliques d'origine génétique
HCP Representative: François-Guillaume FG Debray
University Hospitals Saint-Luc
Cliniques universitaires Saint-Luc
HCP Representative: Marie-Cécile Nassogne
University Hospital “Alexandrovska” Sofia
Experte Centre for hereditary neurologic and metabolic disorders
HCP Representative: Ivailo Tournev
University Hospital Center Zagreb
HCP Representative: Danijela Petković Ramadža
General University Hospital in Prague
HCP Representative: Viktor Kozich
Copenhagen University Hospital, Rigshospitalet
Centre for Inherited Metabolic Diseases, Department of Clinical Genetics
HCP Representative: Allan Meldgaard Lund
Tartu University Hospital
HCP Representative: Katrin Õunap
Helsinki University Hospital (HUS)
HCP Representative: Risto Lapatto
Assistance Publique-Hôpitaux de Marseille
Center of expertise of inherited metabolic disease
HCP Representative: Brigitte Chabrol
Assistance Publique-Hôpitaux de Paris, Hôpital Antoine-Béclère
Centre de référence des maladies héréditaires du métabolisme hépatique
HCP Representative: Philippe Labrune
Assistance Publique-Hôpitaux de Paris, Hôpital Beaujon
Reference Centre for Lysosomal Diseases (Centre de Référence des Maladies Lysosomales). Multi-sites centre which includes Pitié-Salpétrière University Hospital , Trousseau , Paediatric University Hospital, la Croix Saint-Simon Hospital
HCP Representative: Nadia Belmatoug
Assistance Publique-Hôpitaux de Paris, Hôpital Louis-Mourier
Centre de Référence Maladies Rares CRMR Porphyries / CRMR Porphyrias
HCP Representative: Laurent Gouya
Assistance Publique-Hôpitaux de Paris, Hôpital Necker-Enfants Malades
Centre de référence des maladies héréditaires du métabolisme de l’enfant et l’adulte (Reference centre for inherited metabolic diseases of children and adults)
HCP Representative: Pascal de Lonlay
Assistance Publique-Hôpitaux de Paris, Hôpital Pitié-Salpétrière
HCP Representative: Fanny Mochel
Assistance Publique-Hôpitaux de Paris, Hôpital Raymond Poincaré
Centre de référence Généo pour la Maladie de Fabry et les pathologies héréditaires métaboliques du tissu conjonctif
HCP Representative: Dominique Germain
CHU de Lille
HCP Representative: Dries Dobbelaere
Hôpital Fondation Adolphe de Rothschild
HCP Representative: Aurélia Poujois
Charité Universitätsmedizin Berlin
Children’s Hospital, Metabolic Unit
HCP Representative: Athanasia Ziagaki
Medizinische Hochschule Hannover
Clinic for Paediatric Kidney, Liver and Metabolic Diseases, Hannover
HCP Representative: Anihb Martin Das
Universitätsklinikum Düsseldorf
HCP Representative: Felix Distelmaie
Universitätsklinikum Freiburg
Center for Pediatrics, Metabolic Division, University Medical Center Freiburg
HCP Representative: Ute SpiekerKoetter
Universitätsklinikum Gießen und Marburg
Abteilung Kinderneurologie, Sozialpädiatrie und Epileptologie
HCP Representative: Andreas Hahn
Universitätsklinikum Hamburg-Eppendorf
Center for Rare diseases, International center for lysosomal disorders
HCP Representative: Nicole Muschol
Universitätsklinikum Heidelberg
Zentrum für Kinder- und Jugendmedizin
HCP Representative: Stefan Kölker
Universitätsklinikum Magdeburg
Med.Faculty, Central-German Network for rare diseases (Mitteldeutsches Kompetenznetz Seltene Erkrankungen, MKSE)
HCP Representative: Klaus Mohnike
Universitätsklinikum Münster
Metabolic division, Department of general pediatrics
HCP Representative: Frank Rutsch
General Hospital of Athens LAIKO
HCP Representative: Veroniki Komninaka
Children’s Health Ireland
HCP Representative: Ahmad Ardeshir Monavari
AO City of Health and Science – Turin
HCP Representative: Marco Spada
AOU Federico II – Naples
HCP Representative: Giancarlo Parenti
AOU Meyer – Florence
Metabolic, muscular, newborn screening Clinical Unit, Florence
HCP Representative: Maria Alice Donati
AOU Policlinico Umberto I – Rome
HCP Representative: Vincenzo Leuzzi
AOU Siena
HCP Representative: Salvatore Grosso
AOU University of Campania “Luigi Vanvitelli”
HCP Representative: Marina Melone
AOUI Verona
Regional Centre for Newborn Screening, Diagnosis and Treatment of Inherited Metabolic Disorders, Department of Pediatrics
HCP Representative: Alessandro Salviati
Foundation IRCCS CA’Granda Ospedale Maggiore polyclinic – Milan
HCP Representative: Francesca Menni
Foundation polyclinic University A. Gemelli – Rome
HCP Representative: Raffaele Manna
Hospital San Paolo – Milan
DPT of Health Sciences – University of Milan
HCP Representative: Graziella Cefalo
IRCCS AOU Policlinico “S.Orsola-Malpighi”
HCP Representative: Andrea Pession
IRCCS Institute Giannina Gaslini – Genoa
Unit of rare Diseases
HCP Representative: Maria Cristina Schiaffino
Pediatric Hospital Bambino Gesù
HCP Representative: Carlo Dionisi Vici
University Hospital of Padova
Division of Inherited Metabolic Diseases
HCP Representative: Alberto Burlina
University Hospital Policlinico G.Rodolico-San Marco
HCP Representative: Agata Fiumara
Children’s Clinical University Hospital – Riga
HCP Representative: Madara Auzenbaha
Vilnius University Hospital Santaros klinikos
National Reference Centre for inherited metabolic diseases
HCP Representative: Birutė Tumienė
Centre Hospitalier de Luxembourg
HCP Representative: Fernand Pauly
Mater Dei Hospital
HCP Representative: Carol Fenech
Amsterdam University Medical Centers Location AMC
Academi Medical Center
HCP Representative: Annet Bosch
Erasmus MC – University Medical Center Rotterdam
Center for Lysosomal and Metabolic Diseases
HCP Representative: Ans van der Ploeg
Maastricht University Medical Center+
Pediatric Department
HCP Representative: M Estela Rubio-Gozalbo
Radboud University Medical Centre Nijmegen
HCP Representative: Mirian Janssen
University Medical Center Utrecht
Center for Inherited Metabolic Disease
HCP Representative: Peter van Hasselt
University Medical Centre Groningen
HCP Representative: Francjan van Spronsen
Oslo University Hospital
Norvegian National Unit for Screen ing and Diagnostics of congenital metabolic disorders
HCP Representative: Trine Tangeraas
Institute of Mother and Child
HCP Representative: Jolanta Sykut-Cegielska
The Children’s Memorial Health Institute
HCP Representative: Anna Tylki-Szymańska
University Hospital in Krakow
HCP Representative: Beata Kieć-Wilk
Centro Hospitalar de Lisboa Central, EPE
HCP Representative: Ana Cristina Ferreira
Centro Hospitalar de Lisboa Norte, EPE
Unidade de doencas metabolica
HCP Representative: Simões Mendes Gaspar
Centro Hospitalar do Porto
Department of Education, Training and Research
HCP Representative: Esmeralda Martins
Centro Hospitalar e Universitário de Coimbra, EPE
Child Development Centre
HCP Representative: Luísa Maria de Abreu Freire Diogo Matos
Hospital Senhora da Oliveira, Guimarães, EPE
HCP Representative: Olga Azevedo
São João University Hospital
Facultade de Medicine da Universidade do Porto
HCP Representative: Esmeralda Maria Ferreira Rodrigues Silva
ROCAH Clinical Emergency Hospital for Children Cluj-Napoca
HCP Representative: Camelia Alkhzouz
National Institute of Children’s Diseases and Faculty of Medicine Comenius University in Bratislava Department of Paediatrics
HCP Representative: Anna Hlavatá
University Medical Centre Ljubljana
HCP Representative: Mojca Zerjav Tansek
Complejo Hospitalario Regional Virgen del Rocío
HCP Representative: María Bueno Delgado
Complexo Hospitalario Universitario de Santiago
University Clinical Hospital of Santiago de Compostela Unidad de diagnostico y Tratamiento de enfermedades metabolicas congenitas
HCP Representative: Maria Luz Couce-Pico
Hospital Universitari Vall d’Hebron
Pediatric Neurology Unit
HCP Representative: Mireia del Toro-Riera
Hospital Universitario 12 de Octubre
Centro de Referencia Nacional para Enfermedades Metabólicas Hereditarias (C.S.U.R)
HCP Representative: Marcello Belusci
Hospital Universitario de Cruces
Hare Heriditary Metabolic Unit
HCP Representative: Javier de las Heras Montero
Ramon y Cajal University Hospital
HCP Representative: Amaya Bélanger Quintana
Sant Joan de Déu Hospital
HCP Representative: Angeles Garcia Cazorla
Sahlgrenska University Hospital
Center for Inherited Metabolic Diseases
HCP Representative: Niklas Darin
Birmingham Children’s Hospital NHS Foundation Trust
HCP Representative: Suresh Vijay
Great Ormond Street Hospital NHS Foundaton Trust – London
Metabolic service
HCP Representative: Anupanm Chakrapani
Manchester university NHS foundation trust
Willink Unit, Manchester Centre for Genomic Medicine
HCP Representative: Simon Jones
University Hospital of Birmingham NHS Foundation Trust
Endocrinology and Metabolism
HCP Representative: Tarekegn G. Hiwot
University Hospitals Bristol NHS TRUST, Bristol Children’s Hospital
South West Regional Paediatric Metabolic Department
HCP Representative: Efstathia Chronopoulou
