The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype

Kölker, Stefan; Valayannopoulos, Vassili; B. Burlina, Alberto; Sykut‐Cegielska, Jolanta; A. Wijburg, Frits; Leão Teles, Elisa; Zeman, Jiri; Dionisi‐Vici, Carlo; Barić, Ivo; Karall, Daniela; Arnoux, Jean‐Baptiste; Avram, Paula; R. Baumgartner, Matthias; Blasco‐Alonso, Javier; P. Nikolas Boy, S.; Bøgehus Rasmussen, Marlene; Burgard, Peter; Chabrol, Brigitte; Chakrapani, Anupam; Chapman, Kimberly; Cortès i Saladelafont, Elisenda; L. Couce, Maria; de Meirleir, Linda; Dobbelaere, Dries; Furlan, Francesca; Gleich, Florian; Julieta González, Maria; Gradowska, Wanda; Grünewald, Stephanie; Honzik, Tomas; Hörster, Friederike; Ioannou, Hariklea; Jalan, Anil; Häberle, Johannes; Haege, Gisela; Langereis, Eveline; de Lonlay, Pascale; Martinelli, Diego; Matsumoto, Shirou; Mühlhausen, Chris; Murphy, Elaine; Ogier de Baulny, Hélène; Ortez, Carlos; C. Pedrón, Consuelo; Pintos‐Morell, Guillem; Pena‐Quintana, Luis; Petković Ramadža, Danijela; Rodrigues, Esmeralda; Scholl‐Bürgi, Sabine; Sokal, Etienne; L. Summar, Marshall; Thompson, Nicholas; Vara, Roshni; Vives Pinera, Inmaculada; H. Walter, John; Williams, Monique; M. Lund, Allan; Garcia Cazorla, Angeles

doi:10.1007/s10545-015-9840-x

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The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype

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

Authors:

Stefan Kölker

Vassili Valayannopoulos

Alberto B. Burlina

Abstract

Abstract Background The disease course and long‐term outcome of patients with organic acidurias (OAD) and urea cycle disorders (UCD) are incompletely understood. Aims To evaluate the complex clinical phenotype of OAD and UCD patients at different ages. Results Acquired microcephaly and movement diso...

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