NMR spectroscopy of aminoacylase 1 deficiency, a novel inborn error of metabolism

NMR in Biomedicine

Volumn 21, Issue 2, 2008, Pages 138-147

  Engelke, Udo F H ^a   Sass, Jörn Oliver ^b   van Coster, Rudy N ^c   Gerlo, Erik ^d   Olbrich, Heike ^b   Krywawych, Stefan ^e   Calvin, Jacqui ^f   Hart, Claire ^g   Omran, Heymut ^b   Wevers, Ron A ^a  

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^b UNIVERSITY OF FREIBURG   (Germany)

^c GHENT UNIVERSITY HOSPITAL   (Belgium)

^d UNIVERSITY HOSPITAL BRUSSELS   (Belgium)

^e GREAT ORMOND STREET HOSPITAL   (United Kingdom)

^f ADDENBROOKE S HOSPITAL   (United Kingdom)

^g SHEFFIELD CHILDREN S HOSPITAL   (United Kingdom)

Author keywords

Aminoacylase 1 deficiency; Canavan disease; Cerebrospinal fluid; Inborn errors of metabolism; N acetylated amino acids; NMR spectroscopy

Indexed keywords

AMINO ACIDS; BODY FLUIDS; BRAIN; ENZYMES; METABOLISM; PATIENT MONITORING;

AMINOACYLASE; BRAIN METABOLISM; CEREBROSPINAL FLUID;

NUCLEAR MAGNETIC RESONANCE SPECTROSCOPY;

AMINO ACID; AMINOACYLASE; CREATININE;

AMINOACYLASE 1 DEFICIENCY; ARTICLE; CANAVAN DISEASE; CEREBROSPINAL FLUID ANALYSIS; CHILD; CLINICAL ARTICLE; CONCENTRATION RESPONSE; DEMYELINATION; DIAGNOSTIC PROCEDURE; ENZYME ANALYSIS; HUMAN; INBORN ERROR OF METABOLISM; MALE; MENTAL DEFICIENCY; METABOLITE; NEUROLOGIC DISEASE; PRIORITY JOURNAL; PROTON NUCLEAR MAGNETIC RESONANCE; SERUM; STANDARD; URINALYSIS;

ACETYLATION; ADOLESCENT; AMIDOHYDROLASES; AMINO ACID METABOLISM, INBORN ERRORS; AMINO ACIDS; CHILD, PRESCHOOL; HUMANS; INFANT; INFANT, NEWBORN; MAGNETIC RESONANCE SPECTROSCOPY; MALE;

EID: 40449129783     PISSN: 09523480     EISSN: 10991492     Source Type: Journal    
DOI: 10.1002/nbm.1170     Document Type: Article

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