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

**Type:** Papers  
**Canonical URL:** https://scholariq.org/papers/the-phenotypic-spectrum-of-organic-acidurias-and-urea-cycle-disorders-part-2-the/

## Facts

| Field | Value |
| --- | --- |
| Author Names | 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,Malene Bøgehus Rasmussen,Peter Burgard,B. Chabrol,Anupam Chakrapani,Kimberly A. Chapman,Elisenda Cortès i Saladelafont,María L. Couce,Linda De Meırleır,Dries Dobbelaere,Francesca Furlan,Florian Gleich,Marı́a Julieta González,Wanda Gradowska,Stephanie Grünewald,Tomáš Honzík,Friederike Hörster,Hariklea Ioannou,Anil Jalan,Johannes Häberle,Gisela Haege,Eveline J. Langereis,Pascale de Lonlay,Diego Martinelli,Shirou Matsumoto,Chris Mühlhausen,Elaine Murphy,Hélène Ogier de Baulny,C. Ortez,Consuelo Pedrón,Guillem Pintos‐Morell,Luis Peña Quintana,Danijela Petković Ramadža,Esmeralda Rodrigues,Sabine Scholl‐Bürgi,Étienne Sokal,Marshall Summar,Nicholas J. Thompson,Roshni Vara,Inmaculada Vives Piñera,John H. Walter,Monique Williams,Allan M. Lund,Ángeles García Cazorla |
| Citations | 239 |
| DOI | 10.1007/s10545-015-9840-x |
| Fields | Biochemistry, Genetics and Molecular Biology |
| Open Access | true |
| OA Status | green |
| OA URL | https://pure.amsterdamumc.nl/ws/files/160758313/The-phenotypic-spectrum-of-organic-acidurias-and-urea-cycle-disorders-part-2-the-evolving-clinical-phenotype.pdf |
| OpenAlex ID | https://openalex.org/W1990508860 |
| PMID | 25875216 |
| Type | article |
| Year | 2015 |

## Paper authors

- [Vassili Valayannopoulos](https://scholariq.org/researchers/vassili-valayannopoulos/)
- [Javier Blasco‐Alonso](https://scholariq.org/researchers/javier-blasco-alonso/)

## Paper primary topic

- [Metabolism and Genetic Disorders](https://scholariq.org/topics/metabolism-and-genetic-disorders/)

## Paper topics

- [Metabolism and Genetic Disorders](https://scholariq.org/topics/metabolism-and-genetic-disorders/)
- [Mitochondrial Function and Pathology](https://scholariq.org/topics/mitochondrial-function-and-pathology/)
- [Amino Acid Enzymes and Metabolism](https://scholariq.org/topics/amino-acid-enzymes-and-metabolism/)

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Source: ScholarIQ — public research metadata, principally OpenAlex. See https://scholariq.org/sources/ for provenance and https://scholariq.org/methodology/ for what these figures mean.