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

J M van de Kamp; O T Betsalel; S Mercimek-Mahmutoglu; L Abulhoul; S Grünewald; I Anselm; H Azzouz; D Bratkovic; A de Brouwer; B Hamel; T Kleefstra; H Yntema; J Campistol; M A Vilaseca; D Cheillan; M D’Hooghe; L Diogo; P Garcia; C Valongo; M Fonseca; S Frints; B Wilcken; S von der Haar; H E Meijers-Heijboer; F Hofstede; D Johnson; S G Kant; L Lion-Francois; G Pitelet; N Longo; J A Maat-Kievit; J P Monteiro; A Munnich; A C Muntau; M C Nassogne; H Osaka; K Ounap; J M Pinard; S Quijano-Roy; I Poggenburg; N Poplawski; O Abdul-Rahman; A Ribes; A Arias; J Yaplito-Lee; A Schulze; C E Schwartz; S Schwenger; G Soares; Y Sznajer; V Valayannopoulos; H Van Esch; S Waltz; M M C Wamelink; P J W Pouwels; A Errami; M S van der Knaap; C Jakobs; G M Mancini; G S Salomons

doi:10.1136/jmedgenet-2013-101658

Article info

Developmental defects

Original article

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

Authors

J M van de Kamp Department of Clinical Genetics, Neuroscience Campus Amsterdam, VU University Medical Center, Amsterdam, The Netherlands PubMed articles Google scholar articles
O T Betsalel Department of Clinical Chemistry, Metabolic Unit, Neuroscience Campus Amsterdam, VU University Medical Center, Amsterdam, The Netherlands PubMed articles Google scholar articles
S Mercimek-Mahmutoglu Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Canada PubMed articles Google scholar articles
L Abulhoul Paediatric Metabolic Medicine Unit, Great Ormond Street Hospital, UCL Institute of Child Health, London, UK PubMed articles Google scholar articles
S Grünewald Paediatric Metabolic Medicine Unit, Great Ormond Street Hospital, UCL Institute of Child Health, London, UK PubMed articles Google scholar articles
I Anselm Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA PubMed articles Google scholar articles
H Azzouz Service de Pédiatrie et des maladies métaboliques, l'Hôpital la RABTA, Tunis, Tunisia PubMed articles Google scholar articles
D Bratkovic Metabolic Clinic, SA Pathology, North-Adelaide, Australia PubMed articles Google scholar articles
A de Brouwer Department of Human Genetics, Institute of Genetic and Metabolic Disease, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands PubMed articles Google scholar articles
B Hamel Department of Human Genetics, Institute of Genetic and Metabolic Disease, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands PubMed articles Google scholar articles
T Kleefstra Department of Human Genetics, Institute of Genetic and Metabolic Disease, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands PubMed articles Google scholar articles
H Yntema Department of Human Genetics, Institute of Genetic and Metabolic Disease, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands PubMed articles Google scholar articles
J Campistol Neuropediatric Department, Hospital Sant Joan de Déu, Barcelona, Spain PubMed articles Google scholar articles
M A Vilaseca Neuropediatric Department, Hospital Sant Joan de Déu, Barcelona, Spain PubMed articles Google scholar articles
D Cheillan Service Maladies Héréditaires du Métabolisme, Groupement Hospitalier Est, INSERM U.1060/Université Lyon-1/Hospices Civils de Lyon, Lyon, France PubMed articles Google scholar articles
M D’Hooghe Department of Neurology, Algemeen Ziekenhuis Sint-Jan, Bruges, Belgium PubMed articles Google scholar articles
L Diogo Unidade de Doenças Metabólicas, Centro de Desenvolvimento da Criança, Hospital Pediátrico—CHUC, Coimbra, Portugal PubMed articles Google scholar articles
P Garcia Unidade de Doenças Metabólicas, Centro de Desenvolvimento da Criança, Hospital Pediátrico—CHUC, Coimbra, Portugal PubMed articles Google scholar articles
C Valongo Unidade de Rastreio Neonatal, Metabolismo e Genética, Departamento de Genética Humana, Instituto Nacional de Saúde Dr. Ricardo Jorge I.P., Porto, Portugal PubMed articles Google scholar articles
M Fonseca Unidade de Neuropediatria e Desesenvolvimento, Hospital Garcia de Orta, Almada, Portugal PubMed articles Google scholar articles
S Frints Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands PubMed articles Google scholar articles
B Wilcken Department of Paediatrics & Child Health, Children's Hospital Westmead, Westmead, Australia PubMed articles Google scholar articles
S von der Haar Pränatalmedizin und Genetik Nürnberg, Medizinisches Versorgungszentrum, Nuremberg, Germany PubMed articles Google scholar articles
H E Meijers-Heijboer Department of Clinical Genetics, Neuroscience Campus Amsterdam, VU University Medical Center, Amsterdam, The Netherlands PubMed articles Google scholar articles
F Hofstede Department of Metabolic Diseases, Wilhelmina Children's Hospital, University Medical Centre Utrecht, Utrecht, The Netherlands PubMed articles Google scholar articles
D Johnson Department of Paediatric Genetics, Sheffield Children's Hospital, Sheffield, UK PubMed articles Google scholar articles
S G Kant Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands PubMed articles Google scholar articles
L Lion-Francois Service de neurologie pédiatrique, Hôpital Femme Mère Enfant, Lyon, France PubMed articles Google scholar articles
G Pitelet Service de neurologie pédiatrique, Hôpital Femme Mère Enfant, Lyon, France PubMed articles Google scholar articles
N Longo Department of Pediatrics, Division of Medical Genetics, University of Utah, Salt Lake City, Utah, USA PubMed articles Google scholar articles
J A Maat-Kievit Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands PubMed articles Google scholar articles
J P Monteiro Department of Pediatrics, Child Development Center Torrado da Silva, Garcia de Orta Hospital, Almada, Portugal PubMed articles Google scholar articles
A Munnich Département de Génétique et Unité de Recherches sur les Handicaps Génétiques de l'Enfant, Hôpital des Enfants Malades, Paris, France PubMed articles Google scholar articles
A C Muntau Abteilung für Molekulare Paediatrie, Dr. von Haunersches Kinderspital, München, Germany PubMed articles Google scholar articles
M C Nassogne Departement de Neurologie pédiatrique, Université Catholique de Louvain, Cliniques Universitaires Saint-Luc, Brussels, Belgium PubMed articles Google scholar articles
H Osaka Division of Neurology Clinical Research Institute, Kanagawa Children's Medical Center, Yokohama, Japan PubMed articles Google scholar articles
K Ounap Department of Genetics, United Laboratories, Tartu University Hospital, Tartu, Estonia PubMed articles Google scholar articles
J M Pinard Unité de Neurologie Pédiatrique, Département de Pédiatrie, Hôpital Raymond Poincare, Paris-IdF-Ouest University, Paris, France PubMed articles Google scholar articles
S Quijano-Roy Unité de Neurologie Pédiatrique, Département de Pédiatrie, Hôpital Raymond Poincare, Paris-IdF-Ouest University, Paris, France PubMed articles Google scholar articles
I Poggenburg Department of Neuropädiatrie, Klinikum Oldenburg, Oldenburg, Germany PubMed articles Google scholar articles
N Poplawski South Australia Clinical Genetics Service, Genetics and Molecular Pathology, SA Pathology at the Women's and Children's Hospital, North-Adelaide, Australia PubMed articles Google scholar articles
O Abdul-Rahman Department of Pediatrics, University of Mississippi Medical Center, Jackson, Mississippi, USA PubMed articles Google scholar articles
A Ribes Sección de Errores Congénitos del Metabolismo-IBC, Servicio de Bioquímica y Genética Molecular, Hospital Clínic, Ciberer, Barcelona, Spain PubMed articles Google scholar articles
A Arias Sección de Errores Congénitos del Metabolismo-IBC, Servicio de Bioquímica y Genética Molecular, Hospital Clínic, Ciberer, Barcelona, Spain PubMed articles Google scholar articles
J Yaplito-Lee Department of Metabolic Genetics, Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, Australia PubMed articles Google scholar articles
A Schulze Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Canada PubMed articles Google scholar articles
C E Schwartz Center of Molecular Studies, Greenwood Genetic Center, Greenwood, South Carolina, USA PubMed articles Google scholar articles
S Schwenger Department of Pädiatrie, Kinderzentrum München, München, Germany PubMed articles Google scholar articles
G Soares Unidade Genética Médica, Centro de Genética Médica Jacinto Magalhães, Porto, Portugal PubMed articles Google scholar articles
Y Sznajer Centre de génétique humaine, Cliniques Universitaires Saint-Luc, Brussels, Belgium PubMed articles Google scholar articles
V Valayannopoulos Reference Center for Inherited Metabolic Disorders, Necker-Enfants Malades Hospital and Paris Descartes University, Paris, France PubMed articles Google scholar articles
H Van Esch Department of Genetics, Centre for Human Genetics, University Hospitals Leuven, Leuven, Belgium PubMed articles Google scholar articles
S Waltz Department of Neuropediatrics, City Hospital Cologne, Cologne, Germany PubMed articles Google scholar articles
M M C Wamelink Department of Clinical Chemistry, Metabolic Unit, Neuroscience Campus Amsterdam, VU University Medical Center, Amsterdam, The Netherlands PubMed articles Google scholar articles
P J W Pouwels Department of Physics and Medical Technology, Neuroscience Campus Amsterdam, VU University Medical Center, Amsterdam, The Netherlands PubMed articles Google scholar articles
A Errami MRC Holland BV, Amsterdam, The Netherlands PubMed articles Google scholar articles
M S van der Knaap Department of Child Neurology, Neuroscience Campus Amsterdam, VU University Medical Center, Amsterdam, The Netherlands PubMed articles Google scholar articles
C Jakobs Department of Clinical Chemistry, Metabolic Unit, Neuroscience Campus Amsterdam, VU University Medical Center, Amsterdam, The Netherlands PubMed articles Google scholar articles
G M Mancini Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands PubMed articles Google scholar articles
G S Salomons Department of Clinical Chemistry, Metabolic Unit, Neuroscience Campus Amsterdam, VU University Medical Center, Amsterdam, The Netherlands PubMed articles Google scholar articles

Correspondence to Jiddeke Matuja van de Kamp, Department of Clinical Genetics, VU University Medical Center, P.O. Box 7057, Amsterdam 1007MB, The Netherlands; jm.vandekamp{at}vumc.nl

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Citation

van de Kamp JM, Betsalel OT, Mercimek-Mahmutoglu S, et al

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

Journal of Medical Genetics 2013;50:463-472.

Publication history

Received March 12, 2013
Revised April 9, 2013
Accepted April 9, 2013
First published May 3, 2013.

Online issue publication

April 27, 2016

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