Qualitative urinary organic acid analysis: Methodological approaches and performance

Journal of Inherited Metabolic Disease

Volumn 31, Issue 6, 2008, Pages 690-696

  Peters, Verena ^a   Garbade, S F ^a   Langhans, C D ^a   Hoffmann, G F ^a   Pollitt, R J ^b   Downing, M ^b   Bonham, J R ^b  

^a UNIVERSITY HOSPITAL HEIDELBERG   (Germany)

^b Department of Paediatric Chemical Pathology and Neonatal Screening ^*  (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

CARBOXYLIC ACID; METHYLCROTONOYL COENZYME A CARBOXYLASE;

AMINOACIDURIA; ARTICLE; CANAVAN DISEASE; CONTROLLED STUDY; DIAGNOSTIC ACCURACY; DIAGNOSTIC VALUE; GLUTARIC ACIDURIA; GLYCERIC ACIDURIA; HUMAN; INBORN ERROR OF METABOLISM; INTERMETHOD COMPARISON; ISOVALERIC ACIDURIA; LABORATORY DIAGNOSIS; METHYLMALONIC ACIDURIA; MEVALONIC ACIDURIA; PROPIONIC ACIDURIA; QUALITATIVE DIAGNOSIS; QUALITY CONTROL; QUESTIONNAIRE; URINALYSIS;

CARBOXYLIC ACIDS; CHEMISTRY, CLINICAL; HUMANS; LABORATORIES; METABOLIC DISEASES; QUALITY ASSURANCE, HEALTH CARE; QUALITY CONTROL; REPRODUCIBILITY OF RESULTS;

EID: 57649221938     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-008-0986-7     Document Type: Article

References (5)

1. Bonham JR, Downing M, Pollitt RJ, et al (1994) Quality assessment of urinary organic acid analysis. Ann Clin Biochem 31: 129-133.
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3. Knerr I, Pearl BL, Bottiglieri T, et al (2007) Therapeutic concepts in succinate semialdehyde dehydrogenase (SSADH; ALDH5a1) deficiency (gamma-hydroxybutyric aciduria). Hypotheses evolved from 25 years of patient evaluation, studies in Aldh5a1-/-mice and characterization of gamma-hydroxybutyric acid pharmacology. J Inherit Metab Dis 30: 279-294. doi: 10.1007/s10545-007-0574-2.
4. Knerr I, Gibson KM, Jakobs C, et al (2008) Neurologische und psychiatrische Symptome bei Jugendlichen und jungen Erwachsenen mit Succinat-Semialdehyd-Dehydrogenase (SSADH)-Mangel. Oral presentation at the 22. Jahrestagung der Arbeitsgemeinschaft für Pädiatrische Stoffwechselstörungen, Fulda, Germany.
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