# The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation

**Type:** Papers  
**Canonical URL:** https://scholariq.org/papers/the-phenotypic-spectrum-of-organic-acidurias-and-urea-cycle-disorders-part-1-the/

## Facts

| Field | Value |
| --- | --- |
| Author Names | Stefan Kölker,Ángeles García Cazorla,Vassili Valayannopoulos,Allan M. Lund,Alberto Burlina,Jolanta Sykut‐Cegielska,Frits A. Wijburg,Elisa Leão Teles,Jiri Zeman,Carlo Dionisi‐Vici,Ivo Barić,Daniela Karall,Persephone Augoustides‐Savvopoulou,Lise Aksglæde,Jean‐Baptiste Arnoux,Paula Avram,Matthias R. Baumgartner,Javier Blasco‐Alonso,B. Chabrol,Anupam Chakrapani,Kimberly A. Chapman,Elisenda Cortès i Saladelafont,María L. Couce,Linda De Meırleır,Dries Dobbelaere,Veronika Dvořáková,Francesca Furlan,Florian Gleich,Wanda Gradowska,Stephanie Grünewald,Anil Jalan,Johannes Häberle,Gisela Haege,Robin Lachmann,Alexander Laemmle,Eveline J. Langereis,Pascale de Lonlay,Diego Martinelli,Shirou Matsumoto,Chris Mühlhausen,Hélène Ogier de Baulny,C. Ortez,Luis Peña Quintana,Danijela Petković Ramadža,Esmeralda Rodrigues,Sabine Scholl‐Bürgi,Étienne Sokal,Christian Staufner,Marshall Summar,Nicholas J. Thompson,Roshni Vara,Inmaculada Vives Piñera,John H. Walter,Monique Williams,Peter Burgard |
| Citations | 253 |
| DOI | 10.1007/s10545-015-9839-3 |
| Fields | Biochemistry, Genetics and Molecular Biology,Medicine |
| Open Access | true |
| OA Status | green |
| OA URL | https://pure.amsterdamumc.nl/ws/files/160749661/The-phenotypic-spectrum-of-organic-acidurias-and-urea-cycle-disorders-part-1-the-initial-presentation.pdf |
| OpenAlex ID | https://openalex.org/W2059267377 |
| PMID | 25875215 |
| 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/)
- [Biochemical and Molecular Research](https://scholariq.org/topics/biochemical-and-molecular-research/)
- [Biomedical Research and Pathophysiology](https://scholariq.org/topics/biomedical-research-and-pathophysiology/)

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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.