The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation

Kölker, Stefan; Garcia Cazorla, Angeles; Valayannopoulos, Vassili; M. Lund, Allan; B. Burlina, Alberto; Sykut‐Cegielska, Jolanta; A. Wijburg, Frits; Leão Teles, Elisa; Zeman, Jiri; Dionisi‐Vici, Carlo; Barić, Ivo; Karall, Daniela; Augoustides‐Savvopoulou, Persephone; Aksglaede, Lise; Arnoux, Jean‐Baptiste; Avram, Paula; R. Baumgartner, Matthias; Blasco‐Alonso, Javier; Chabrol, Brigitte; Chakrapani, Anupam; Chapman, Kimberly; Cortès i Saladelafont, Elisenda; L. Couce, Maria; de Meirleir, Linda; Dobbelaere, Dries; Dvorakova, Veronika; Furlan, Francesca; Gleich, Florian; Gradowska, Wanda; Grünewald, Stephanie; Jalan, Anil; Häberle, Johannes; Haege, Gisela; Lachmann, Robin; Laemmle, Alexander; Langereis, Eveline; de Lonlay, Pascale; Martinelli, Diego; Matsumoto, Shirou; Mühlhausen, Chris; Ogier de Baulny, Hélène; Ortez, Carlos; Peña‐Quintana, Luis; Petković Ramadža, Danijela; Rodrigues, Esmeralda; Scholl‐Bürgi, Sabine; Sokal, Etienne; Staufner, Christian; L. Summar, Marshall; Thompson, Nicholas; Vara, Roshni; Vives Pinera, Inmaculada; H. Walter, John; Williams, Monique; Burgard, Peter

doi:10.1007/s10545-015-9839-3

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The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation

Shared by NobleBlocks on Apr 15, 2015 • 12:00 AM UTC

Authors:

Stefan Kölker

Angeles Garcia Cazorla

Vassili Valayannopoulos

Abstract

Abstract Background The clinical presentation of patients with organic acidurias (OAD) and urea cycle disorders (UCD) is variable; symptoms are often non‐specific. Aims/methods To improve the knowledge about OAD and UCD the E‐IMD consortium established a web‐based patient registry. Results We regist...

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