[1 H] Magnetic resonance spectroscopy of urine: Diagnosis of a guanidinoacetate methyl transferase deficiency case

Journal of Child Neurology

Volumn 25, Issue 1, 2010, Pages 98-101

  Tassini, Maria ^b   Zannolli, Raffaella ^b,d   Buoni, Sabrina ^c,d   Engelke, Udo ^a   Vivi, Antonio ^b   Valensin, Gianni ^b   Salomons, Gajja S ^c   De Nicola, Anna ^b,d   Strambi, Mirella ^b   Monti, Lucia ^d   Morava, Eva ^a   Wevers, Ron A ^a   Hayek, Joseph ^d  

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^b UNIVERSITY OF SIENA   (Italy)

^c VU UNIVERSITY MEDICAL CENTER   (Netherlands)

^d UNIVERSITY HOSPITAL OF SIENA   (Italy)

Author keywords

Epilepsy; Guanidinoacetate methyl transferase deficiency; Guanidinoacetic acid; Urine 1H magnetic resonance spectroscopy

Indexed keywords

GUANIDINOACETATE METHYLTRANSFERASE;

ARTICLE; CASE REPORT; CHILD; DISEASE SEVERITY; ENZYME DEFICIENCY; ENZYME REPLACEMENT; EPILEPSY; GUANIDINOACETATE METHYLTRANSFERASE DEFICIENCY; HUMAN; LIQUID CHROMATOGRAPHY; MALE; MASS SPECTROMETRY; MENTAL DEFICIENCY; MOTOR RETARDATION; MUTATIONAL ANALYSIS; PHOTON CORRELATION SPECTROSCOPY; PRIORITY JOURNAL; PROTON NUCLEAR MAGNETIC RESONANCE; SCHOOL CHILD; URINALYSIS;

BRAIN; CHILD; CHROMATOGRAPHY, LIQUID; DEFICIENCY DISEASES; DIAGNOSIS, DIFFERENTIAL; DNA MUTATIONAL ANALYSIS; EPILEPSY; GUANIDINOACETATE N-METHYLTRANSFERASE; HUMANS; MAGNETIC RESONANCE SPECTROSCOPY; MALE; MASS SPECTROMETRY; MENTAL RETARDATION; MOVEMENT DISORDERS; PROTONS; SEIZURES; TREATMENT OUTCOME;

EID: 75649097084     PISSN: 08830738     EISSN: 17088283     Source Type: Journal    
DOI: 10.1177/0883073809336120     Document Type: Article

References (9)

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