# Phenotype and genotype in 101 males with X-linked creatine transporter deficiency

**Type:** Papers  
**Canonical URL:** https://scholariq.org/papers/phenotype-and-genotype-in-101-males-with-x-linked-creatine-transporter/

## Facts

| Field | Value |
| --- | --- |
| Author Names | Jiddeke M. van de Kamp,Ofir T. Betsalel,Saadet Mercimek‐Mahmutoglu,Lara Abulhoul,Stephanie Grünewald,Irina Anselm,Hatem Azzouz,Drago Bratkovic,Arjan de Brouwer,Ben C.J. Hamel,Tjitske Kleefstra,Helger G. Yntema,Jaume Campistol,Marta Vilaseca,David Cheillan,Marc D’Hooghe,Luísa Diogo,Paula Garcia,Carla Valongo,Maria José Fonseca,Suzanna G.M. Frints,Bridget Wilcken,Sigrun von der Haar,Hanne Meijers‐Heijboer,Floris C. Hofstede,Diana Johnson,Sarina G. Kant,Laurence Lion‐François,G. Pitelet,Nicola Longo,J A Maat-Kievit,João Monteiro,Arnold Münnich,Ania C. Muntau,Marie‐Cécile Nassogne,Hitoshi Osaka,Katrin Õunap,Jean-Marc Pinard,Susana Quijano‐Roy,Imke Poggenburg,Nicola Poplawski,Omar Abdul‐Rahman,Antònia Ribes,Ángela Arias,Joy Yaplito‐Lee,Andreas Schulze,Charles E. Schwartz,Susanne Schwenger,G. Soares,Yves Sznajer,Vassili Valayannopoulos,Hilde Van Esch,Stephan Waltz,Mirjam M. C. Wamelink,Petra J. W. Pouwels,Abdellatif Errami,Marjo S. van der Knaap,C. Jakobs,Grazia M.S. Mancini,Gajja S. Salomons |
| Citations | 167 |
| DOI | 10.1136/jmedgenet-2013-101658 |
| Fields | Biochemistry, Genetics and Molecular Biology |
| Open Access | true |
| OA Status | green |
| OA URL | http://hdl.handle.net/1765/66522 |
| OpenAlex ID | https://openalex.org/W2129691431 |
| PMID | 23644449 |
| Type | article |
| Year | 2013 |

## Paper authors

- [David Cheillan](https://scholariq.org/researchers/david-cheillan/)

## Paper primary topic

- [Muscle metabolism and nutrition](https://scholariq.org/topics/muscle-metabolism-and-nutrition/)

## Paper topics

- [Muscle metabolism and nutrition](https://scholariq.org/topics/muscle-metabolism-and-nutrition/)
- [Genetics and Physical Performance](https://scholariq.org/topics/genetics-and-physical-performance/)
- [Metabolism and Genetic Disorders](https://scholariq.org/topics/metabolism-and-genetic-disorders/)

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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.