Article
The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype.
Journal of inherited metabolic disease - 1 Nov 2015
Kölker Stefan, Valayannopoulos Vassili, Burlina Alberto B, Sykut-Cegielska Jolanta, Wijburg Frits A, Teles Elisa Leão, Zeman Jiri, Dionisi-Vici Carlo, Barić Ivo, Karall Daniela, Arnoux Jean-Baptiste, Avram Paula, Baumgartner Matthias R, Blasco-Alonso Javier, Boy S P Nikolas, Rasmussen Marlene Bøgehus, Burgard Peter, Chabrol Brigitte, Chakrapani Anupam, Chapman Kimberly, Cortès I Saladelafont Elisenda, Couce Maria L, de Meirleir Linda, Dobbelaere Dries, Furlan Francesca, Gleich Florian, González Maria Julieta, 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, de Baulny Hélène Ogier, Ortez Carlos, Pedrón Consuelo C, Pintos-Morell Guillem, Pena-Quintana Luis, Ramadža Danijela Petković, Rodrigues Esmeralda, Scholl-Bürgi Sabine, Sokal Etienne, Summar Marshall L, Thompson Nicholas, Vara Roshni, Pinera Inmaculada Vives, Walter John H, Williams Monique, Lund Allan M, Garcia-Cazorla Angeles, Garcia Cazorla Angeles
Abstract excerpt
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 were common in OAD and UCD highlighting that the brain is the major organ involved in these diseases. Cardiomyopathy...
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