1H MRS allows brain phenotype differentiation in sisters with late onset ornithine transcarbamylase deficiency (OTCD) and discordant clinical presentations

Molecular Genetics and Metabolism

Volumn 94, Issue 1, 2008, Pages 52-60

  Gropman, Andrea L ^a,b,c   Seltzer, Rebecca R ^b,c   Yudkoff, Marc ^d   Sawyer, Alice ^b   vanMeter, John ^b,c   Fricke, Stanley T ^a  

^a CHILDREN'S NATIONAL MEDICAL CENTER   (United States)

^b GEORGETOWN UNIVERSITY SCHOOL OF MEDICINE   (United States)

^c GEORGETOWN UNIVERSITY   (United States)

^d CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

Author keywords

1H magnetic resonance spectroscopy (MRS); Ammonia; Myoinositol; Ornithine transcarbamylase deficiency (OTCD); Stable isotopes; Urea cycle

Indexed keywords

AMINO ACID; AMMONIA; BIOLOGICAL MARKER; CARBOXYLIC ACID; INOSITOL; UREA; HYDROGEN;

ADULT; AMINO ACID BLOOD LEVEL; AMMONIA BLOOD LEVEL; ARTICLE; BRAIN METABOLISM; CASE REPORT; CINGULATE GYRUS; CLINICAL FEATURE; COGNITION; COMPARATIVE STUDY; CONCENTRATION (PARAMETERS); CONTROL GROUP; DISEASE SEVERITY; DISORDERS OF AMINO ACID AND PROTEIN METABOLISM; FEMALE; FRONTAL LOBE; HUMAN; ISOTOPE ANALYSIS; MOTHER; NEUROIMAGING; NEUROLOGIC EXAMINATION; PARIETAL LOBE; PHENOTYPE; PRIORITY JOURNAL; PROTON NUCLEAR MAGNETIC RESONANCE; SISTER CHROMATID; SYMPTOMATOLOGY; THALAMUS; UREA CYCLE; URINALYSIS; WHITE MATTER; BRAIN; BRAIN LEVEL; CELL DIFFERENTIATION; COGNITIVE DEFECT; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEAR MAGNETIC RESONANCE SPECTROSCOPY; ONSET AGE; PATHOLOGY; PEDIGREE; SIBLING;

ADULT; AGE OF ONSET; BRAIN; BRAIN CHEMISTRY; CELL DIFFERENTIATION; COGNITION DISORDERS; FEMALE; HUMANS; HYDROGEN; INOSITOL; MAGNETIC RESONANCE IMAGING; MAGNETIC RESONANCE SPECTROSCOPY; ORNITHINE CARBAMOYLTRANSFERASE DEFICIENCY DISEASE; PEDIGREE; PHENOTYPE; SIBLINGS;

EID: 41949097865     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2007.12.008     Document Type: Article

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