Guanidinoacetate methyltransferase (GAMT) deficiency: Outcomes in 48 individuals and recommendations for diagnosis, treatment and monitoring

Molecular Genetics and Metabolism

Volumn 111, Issue 1, 2014, Pages 16-25

  Stockler Ipsiroglu, Sylvia ^a   van Karnebeek, Clara ^a   Longo, Nicola ^b   Korenke, G Christoph ^c   Mercimek Mahmutoglu, Saadet ^d   Marquart, Iris ^c   Barshop, Bruce ^e   Grolik, Christiane ^f   Schlune, Andrea ^g   Angle, Brad ^h   Araújo, Helena Caldeira ⁱ   Coskun, Turgay ^j   Diogo, Luisa ^k   Geraghty, Michael ^l   Haliloglu, Goknur ^j   Konstantopoulou, Vassiliki ^m   Leuzzi, Vincenzo ⁿ   Levtova, Alina ^o   MacKenzie, Jennifer ^p   Maranda, Bruno ^q   Mhanni, Aizeddin A ^r   Mitchell, Grant ^o   Morris, Andrew ^s   Newlove, Theresa ^a   Renaud, Deborah ^t   Scaglia, Fernando ^u   Valayannopoulos, Vassili ^v   van Spronsen, Francjan J ^w   Verbruggen, Krijn T ^w   Yuskiv, Nataliya ^a   Nyhan, William ^e   Schulze, Andreas ^d,x   more..

^a UNIVERSITY OF BRITISH COLUMBIA   (Canada)

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

^c KLINIKUM OLDENBURG   (Germany)

^d HOSPITAL FOR SICK CHILDREN   (Canada)

^e UNIVERSITY OF CALIFORNIA SAN DIEGO   (United States)

^f UNIVERSITY HOSPITAL OF COLOGNE   (Germany)

^g UNIVERSITY HOSPITAL DÜSSELDORF   (Germany)

^h CHILDREN'S MEMORIAL HOSPITAL   (United States)

ⁱ UNIVERSITY OF MADEIRA   (Portugal)

^j HACETTEPE UNIVERSITY   (Turkey)

^k CENTRO HOSPITALAR E UNIVERSITÁRIO DE COIMBRA   (Portugal)

^l CHILDREN S HOSPITAL OF EASTERN ONTARIO   (Canada)

^m MEDICAL UNIVERSITY OF VIENNA   (Austria)

ⁿ SAPIENZA UNIVERSITY OF ROME   (Italy)

^o UNIVERSITY OF MONTREAL   (Canada)

^p QUEEN S UNIVERSITY   (Canada)

^q UNIVERSITÉ DE SHERBROOKE   (Canada)

^r UNIVERSITY OF MANITOBA   (Canada)

^s UNIVERSITY OF MANCHESTER   (United Kingdom)

^t MAYO CLINIC   (United States)

^u BAYLOR COLLEGE OF MEDICINE   (United States)

^v HÔPITAL NECKER ENFANTS MALADES   (France)

^w UNIVERSITY OF GRONINGEN   (Netherlands)

^x HOSPITAL FOR SICK CHILDREN RESEARCH INSTITUTE   (Canada)

more..

Author keywords

Autism; Creatine deficiency; Magnetic resonance spectroscopy; Neurodevelopmental outcome; Speech delay; Treatment evidence

Indexed keywords

BENZOIC ACID; CREATINE; GUANIDINOACETATE METHYLTRANSFERASE; ORNITHINE; ARGININE; BIOLOGICAL MARKER; GUANIDINOACETIC ACID; ORNITHINE ASPARTATE;

ADOLESCENT; ADULT; ARTICLE; BEHAVIOR DISORDER; CHILD; CLINICAL ARTICLE; DEVELOPMENTAL DISORDER; DISEASE SEVERITY; ENZYME DEFICIENCY; EPILEPSY; FEMALE; GUANIDINOACETATE METHYLTRANSFERASE DEFICIENCY; HUMAN; INFANT; INTELLECTUAL IMPAIRMENT; LANGUAGE DELAY; MALE; MOTOR DYSFUNCTION; NEWBORN; PRIORITY JOURNAL; PROTEIN RESTRICTION; SPEECH DELAY; CEREBROSPINAL FLUID; COMPARATIVE STUDY; DRUG EFFECT; DRUG MEGADOSE; INTELLIGENCE QUOTIENT; LOW DRUG DOSE; NUCLEAR MAGNETIC RESONANCE IMAGING; OUTCOME ASSESSMENT; PROTON NUCLEAR MAGNETIC RESONANCE; TREATMENT DURATION;

AUTISM; CREATINE DEFICIENCY; MAGNETIC RESONANCE SPECTROSCOPY; NEURODEVELOPMENTAL OUTCOME; SPEECH DELAY; TREATMENT EVIDENCE;

ADOLESCENT; ADULT; ARGININE; BRAIN; CHILD; CHILD, PRESCHOOL; COMBINED MODALITY THERAPY; CREATINE; FEMALE; GLYCINE; GUANIDINOACETATE N-METHYLTRANSFERASE; HUMANS; INFANT; INFANT, NEWBORN; INTELLECTUAL DISABILITY; LANGUAGE DEVELOPMENT DISORDERS; MALE; MIDDLE AGED; MOVEMENT DISORDERS; ORNITHINE; PRACTICE GUIDELINES AS TOPIC; SODIUM BENZOATE; TREATMENT OUTCOME; YOUNG ADULT;

EID: 84891811245     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2013.10.018     Document Type: Article

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