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

Journal of Medical Genetics

Volumn 50, Issue 7, 2013, Pages 463-472

  van de Kamp, J M ^a   Betsalel, O T ^a   Mercimek Mahmutoglu, S ^b   Abulhoul, L ^c   Grunewald S ^c   Anselm, I ^d   Azzouz, H ^e   Bratkovic, D ^f   de Brouwer, A ^g   Hamel, B ^g   Kleefstra, T ^g   Yntema, H ^g   Campistol, J ^h   Vilaseca, M A ^h   Cheillan, D ⁱ   D'Hooghe, M ^j   Diogo, L ^k   Garcia, P ^k   Valongo, C ^l   Fonseca, M ^m   Frints, S ⁿ   Wilcken, B ^o   von der Haar, S ^p   Meijers Heijboer, H E ^a   Hofstede, F ^q   Johnson, D ^r   Kant, S G ^s   Lion Francois, L ⁱ   Pitelet, G ⁱ   Longo, N ^t   Maat Kievit, J A ^u   Monteiro, J P ^m   Munnich, A ^v   Muntau, A C ^w   Nassogne, M C ^x   Osaka, H ^y   Ounap, K ^z   Pinard, J M ^aa   Quijano Roy, S ^aa   Poggenburg, I ^ab   Poplawski, N ^ac   Abdul Rahman, O ^ad   Ribes, A ^ae   Arias, A ^ae   Yaplito Lee, J ^af   Schulze, A ^b   Schwartz, C E ^ag   Schwenger, S ^ah   Soares, G ^ai   Sznajer, Y ^x   Valayannopoulos, V ^v   Van Esch, H ^aj   Waltz, S ^ak   Wamelink, M M C ^a   Pouwels, P J W ^a   Errami, A ^al   van der Knaap, M S ^a   Jakobs, C ^a   Mancini, G M ^u   Salomons, G S ^a   more..

^a VU UNIVERSITY MEDICAL CENTER   (Netherlands)

^b HOSPITAL FOR SICK CHILDREN   (Canada)

^c UNIVERSITY COLLEGE LONDON   (United Kingdom)

^d HARVARD MEDICAL SCHOOL   (United States)

^e LA RABTA HOSPITAL   (Tunisia)

^f Metabolic Clinic   (Australia)

^g RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^h HOSPITAL SANT JOAN DE DÉU   (Spain)

ⁱ HOSPICES CIVILS DE LYON   (France)

^j General Hospital St Jan   (Belgium)

^k CENTRO HOSPITALAR E UNIVERSITÁRIO DE COIMBRA   (Portugal)

^l NATIONAL INSTITUTE OF HEALTH   (Portugal)

^m HOSPITAL GARCIA DE ORTA   (Portugal)

ⁿ MAASTRICHT UNIVERSITY MEDICAL CENTER   (Netherlands)

^o CHILDREN S HOSPITAL AT WESTMEAD   (Australia)

^p Pränatalmedizin und Genetik Nürnberg   (Germany)

^q UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

^r Department of Paediatric Genetics   (United States)

^s LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

^t UNIVERSITY OF UTAH SCHOOL OF MEDICINE   (United States)

^u ERASMUS MEDICAL CENTER   (Netherlands)

^v HÔPITAL NECKER ENFANTS MALADES   (France)

^w LUDWIG MAXIMILIANS UNIVERSITY   (Germany)

^x CLINIQUES UNIVERSITAIRES SAINT LUC   (Belgium)

^y KANAGAWA CHILDREN'S MEDICAL CENTER   (Japan)

^z TARTU UNIVERSITY HOSPITAL   (Estonia)

^aa RAYMOND POINCARÉ HOSPITAL   (France)

^ab KLINIKUM OLDENBURG   (Germany)

^ac WOMEN S AND CHILDREN S HOSPITAL   (Australia)

^ad UNIVERSITY OF MISSISSIPPI SCHOOL OF MEDICINE   (United States)

^ae CENTRO DE INVESTIGACIÓN BIOMÉDICA EN RED DE ENFERMEDADES RARAS CIBERER   (Spain)

^af ROYAL CHILDREN'S HOSPITAL   (Australia)

^ag GREENWOOD GENETIC CENTER   (United States)

^ah Kinderzentrum Munchen   (Germany)

^ai Centro de Genética Médica Doutor Jacinto de Magalhães CHP EPE   (Portugal)

^aj UNIVERSITY HOSPITALS LEUVEN   (Belgium)

^ak UNIVERSITY HOSPITAL OF COLOGNE   (Germany)

^al MRC HOLLAND   (Netherlands)

more..

Author keywords

[No Author keywords available]

Indexed keywords

CARRIER PROTEIN; CREATINE; CREATININE; SLC6A8 PROTEIN; UNCLASSIFIED DRUG;

ABDUCENS NERVE PARALYSIS; ADULT; ARTICLE; ATHETOSIS; BEHAVIOR DISORDER; BLADDER INSTABILITY; CARDIOMYOPATHY; CLINICAL FEATURE; CLINICAL STUDY; CONSTIPATION; COORDINATION DISORDER; CREATININE URINE LEVEL; DISEASE SEVERITY; DUANE RETRACTION SYNDROME; DUODENUM ULCER; DYSTONIA; EXTRAPYRAMIDAL SYMPTOM; FAILURE TO THRIVE; FEEDING DISORDER; GASTROINTESTINAL SYMPTOM; GENE; GENETIC ANALYSIS; GENETIC SCREENING; GENOTYPE; GENOTYPE PHENOTYPE CORRELATION; HEART VENTRICLE EXTRASYSTOLE; HEPATITIS; HIATUS HERNIA; HUMAN; ILEUS; INTELLECTUAL IMPAIRMENT; KIDNEY CYST; LANGUAGE DELAY; LONG QT SYNDROME; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; MOLECULAR GENETICS; MUSCLE HYPOTONIA; NEUROIMAGING; NEUROLOGIC DISEASE; NUCLEAR MAGNETIC RESONANCE SPECTROSCOPY; PERCEPTION DEAFNESS; PHENOTYPE; PRIORITY JOURNAL; RECURRENT INFECTION; RETROSPECTIVE STUDY; SEIZURE; SLC6A8 GENE; SPASTICITY; SPEECH DELAY; STOMACH ULCER; STRABISMUS; URETHRA STENOSIS; URINARY TRACT INFECTION; URINE LEVEL; UROGENITAL TRACT MALFORMATION; VOMITING; X CHROMOSOME LINKED DISORDER; X LINKED CREATINE TRANSPORTER DEFICIENCY;

EID: 84883192433     PISSN: 00222593     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmedgenet-2013-101658     Document Type: Article

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