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

Kölker, Stefan; Valayannopoulos, Vassili; 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, Malene; Burgard, Peter; Chabrol, B.; Chakrapani, Anupam; A. Chapman, Kimberly; Cortès i Saladelafont, Elisenda; L. Couce, María; De Meırleır, Linda; Dobbelaere, Dries; Furlan, Francesca; Gleich, Florian; Julieta González, Marı́a; Gradowska, Wanda; Grünewald, Stephanie; Honzík, Tomáš; Hörster, Friederike; Ioannou, Hariklea; Jalan, Anil; Häberle, Johannes; Haege, Gisela; J. Langereis, Eveline; de Lonlay, Pascale; Martinelli, Diego; Matsumoto, Shirou; Mühlhausen, Chris; Murphy, Elaine; Ogier de Baulny, Hélène; Ortez, C.; Pedrón, Consuelo; Pintos‐Morell, Guillem; Peña Quintana, Luis; Petković Ramadža, Danijela; Rodrigues, Esmeralda; Scholl‐Bürgi, Sabine; Sokal, Étienne; Summar, Marshall; J. Thompson, Nicholas; Vara, Roshni; Vives Piñera, Inmaculada; H. Walter, John; Williams, Monique; M. Lund, Allan; García Cazorla, Ángeles

doi:10.1007/s10545-015-9840-x

Public

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

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

Authors:

Stefan Kölker

Vassili Valayannopoulos

Alberto Burlina

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 disorders ...

Subject

Medicine

Urea cycle

Methylmalonic aciduria

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