Novel proton MR spectroscopy findings in adenylosuccinate lyase deficiency

Journal of Magnetic Resonance Imaging

Volumn 37, Issue 4, 2013, Pages 974-980

  Zulfiqar, Maria ^a   Lin, Doris D M ^a   Van Der Graaf, Marinette ^b   Barker, Peter B ^a,c   Fahrner, Jill A ^a   Marie, Sandrine ^d   Morava, Eva ^b   De Boer, Lonneke ^b   Willemsen, Michel A A P ^b   Vining, Eileen ^a   Horská, Alena ^a   Engelke, Udo ^b   Wevers, Ron A ^b   Maegawa, Gustavo H B ^a  

^a JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^c KENNEDY KRIEGER INSTITUTE   (United States)

^d DE DUVE INSTITUTE   (Belgium)

Author keywords

adenylosuccinate lyase deficiency; MRI; neonatal seizures; proton MR spectroscopy

Indexed keywords

ADENOSINE; ADENYLOSUCCINATE LYASE; ANTICONVULSIVE AGENT; PHENOBARBITAL; STEROID; SUCCINYLADENOSINE; SUCCINYLAMINOIMIDAZOLE CARBOXAMIDE RIBOSIDE; TRANSFERASE; UNCLASSIFIED DRUG;

ADENYLOSUCCINATE LYASE DEFICIENCY; ALLELE; ARTICLE; BRAIN ATROPHY; CASE REPORT; CEREBROSPINAL FLUID LEVEL; CHILD; COMPLEX PARTIAL SEIZURE; DISEASE SEVERITY; ELECTROENCEPHALOGRAM; ENZYME DEFICIENCY; FEMALE; GENE MUTATION; HUMAN; HYPSARRHYTHMIA; INFANT; INFANTILE SPASM; INTRACTABLE EPILEPSY; KETOGENIC DIET; MALE; MICROCEPHALY; MYELINATION; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEAR MAGNETIC RESONANCE SCANNER; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTON NUCLEAR MAGNETIC RESONANCE; PSYCHOMOTOR RETARDATION; SEIZURE; URINE LEVEL; WHITE MATTER;

ADENOSINE; ADENYLOSUCCINATE LYASE; AMINOIMIDAZOLE CARBOXAMIDE; BRAIN; DEVELOPMENTAL DISABILITIES; DNA MUTATIONAL ANALYSIS; FEMALE; HUMANS; IMAGE ENHANCEMENT; IMAGE INTERPRETATION, COMPUTER-ASSISTED; INFANT; MAGNETIC RESONANCE SPECTROSCOPY; MALE; PSYCHOMOTOR DISORDERS; PURINE-PYRIMIDINE METABOLISM, INBORN ERRORS; RIBONUCLEOSIDES;

EID: 84875425157     PISSN: 10531807     EISSN: 15222586     Source Type: Journal    
DOI: 10.1002/jmri.23852     Document Type: Article

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