The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentat...
The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation
About this item
Full title
Author / Creator
Kölker, Stefan , Cazorla, Angeles Garcia , Valayannopoulos, Vassili , Lund, Allan M. , Burlina, Alberto B. , Sykut-Cegielska, Jolanta , Wijburg, Frits A. , Teles, Elisa Leão , Zeman, Jiri , Dionisi-Vici, Carlo , Barić, Ivo , Karall, Daniela , Augoustides-Savvopoulou, Persephone , Aksglaede, Lise , Arnoux, Jean-Baptiste , Avram, Paula , Baumgartner, Matthias R. , Blasco-Alonso, Javier , Chabrol, Brigitte , Chakrapani, Anupam , Chapman, Kimberly , i Saladelafont, Elisenda Cortès , Couce, Maria L. , 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 , de Baulny, Hélène Ogier , Ortez, Carlos , Peña-Quintana, Luis , Ramadža, Danijela Petković , Rodrigues, Esmeralda , Scholl-Bürgi, Sabine , Sokal, Etienne , Staufner, Christian , Summar, Marshall L. , Thompson, Nicholas , Vara, Roshni , Pinera, Inmaculada Vives , Walter, John H. , Williams, Monique and Burgard, Peter
Publisher
Dordrecht: Springer Netherlands
Journal title
Language
English
Formats
Publication information
Publisher
Dordrecht: Springer Netherlands
Subjects
More information
Scope and Contents
Contents
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 795 patients with OAD (n = 452) and UCD...
Alternative Titles
Full title
The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation
Authors, Artists and Contributors
Author / Creator
Cazorla, Angeles Garcia
Valayannopoulos, Vassili
Lund, Allan M.
Burlina, Alberto B.
Sykut-Cegielska, Jolanta
Wijburg, Frits A.
Teles, Elisa Leão
Zeman, Jiri
Dionisi-Vici, Carlo
Barić, Ivo
Karall, Daniela
Augoustides-Savvopoulou, Persephone
Aksglaede, Lise
Arnoux, Jean-Baptiste
Avram, Paula
Baumgartner, Matthias R.
Blasco-Alonso, Javier
Chabrol, Brigitte
Chakrapani, Anupam
Chapman, Kimberly
i Saladelafont, Elisenda Cortès
Couce, Maria L.
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
de Baulny, Hélène Ogier
Ortez, Carlos
Peña-Quintana, Luis
Ramadža, Danijela Petković
Rodrigues, Esmeralda
Scholl-Bürgi, Sabine
Sokal, Etienne
Staufner, Christian
Summar, Marshall L.
Thompson, Nicholas
Vara, Roshni
Pinera, Inmaculada Vives
Walter, John H.
Williams, Monique
Burgard, Peter
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_proquest_miscellaneous_1728672855
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_1728672855
Other Identifiers
ISSN
0141-8955
E-ISSN
1573-2665
DOI
10.1007/s10545-015-9839-3
