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

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

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

2015

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

Background The disease course and long-term outcome of patients with organic acidurias (OAD) and urea cycle disorders (UCD) are incompletely understood.

Keywords:

Diabetes mellitus
Biology
Urea cycle
Internal medicine
Endocrinology
Urea cycle disorder
Optic nerve atrophy
Disease
Phenotype
chronic renal failure
Biochemistry
Bioinformatics
clinical phenotype
disease course

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