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

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

doi:10.1007/s10545-015-9839-3

Public

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

Published in Journal of Inherited Metabolic Disease • Apr 14, 2015

Authors:

Stefan Kölker

Ángeles García Cazorla

Vassili Valayannopoulos

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 registered 7...

Subject

Urea cycle

Ornithine transcarbamylase deficiency

Medicine

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