Qualitative urinary organic acid analysis: 10 years of quality assurance

Journal of Inherited Metabolic Disease

Volumn 39, Issue 5, 2016, Pages 683-687

  Peters, Verena ^a   Bonham, James R ^b   Hoffmann, Georg F ^a   Scott, Camilla ^b   Langhans, Claus Dieter ^a  

^a Section of Neuropediatrics Center for Child and Adolescent Medicine   (Germany)

^b SHEFFIELD CHILDREN'S NHS FOUNDATION TRUST   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

AMINOACYLASE; CARBOXYLIC ACID; FUMARATE HYDRATASE; GLYCERIC ACID; GLYCOLIC ACID; LACTIC ACID; METHYLCROTONOYL COENZYME A CARBOXYLASE; OXALIC ACID;

3 METHYLCROTONYL COA CARBOXYLASE DEFICIENCY; ACIDURIA; ALKAPTONURIA; AMINOACYLASE I DEFICIENCY; ARTICLE; CLINICAL LABORATORY; CONTROLLED STUDY; DIAGNOSTIC TEST; FUMARASE DEFICIENCY; GLUTARIC ACIDEMIA TYPE I; HAWKINSINURIA; HUMAN; ISOVALERIC ACIDURIA; MAJOR CLINICAL STUDY; MAPLE SYRUP URINE DISEASE; METABOLIC DISORDER; METHYLMALONIC ACIDURIA; MEVALONIC ACIDURIA; OUTCOME ASSESSMENT; PATIENT REFERRAL; PHENYLKETONURIA; PROPIONIC ACIDURIA; QUALITATIVE ANALYSIS; SCREENING TEST; TYROSINAEMIA TYPE I; TYROSINEMIA; URINALYSIS; URINARY TRACT BIOPSY; URINE SAMPLING; CHEMISTRY; DISORDERS OF AMINO ACID AND PROTEIN METABOLISM; FEMALE; LABORATORY; MALE; METABOLISM; REPRODUCIBILITY; URINE;

AMINO ACID METABOLISM, INBORN ERRORS; FEMALE; HUMANS; LABORATORIES; MALE; METABOLIC DISEASES; REPRODUCIBILITY OF RESULTS; URINE;

EID: 84965071599     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-016-9941-1     Document Type: Article

References (6)

1. Bonham JR, Downing M, Pollitt RJ et al (1994) Quality assessment of urinary organic acid analysis. Ann Clin Biochem 31(Pt 2):129–133
2. Engelke UF, Sass JO, Van Coster RN et al (2008) NMR spectroscopy of aminoacylase 1 deficiency, a novel inborn error of metabolism. NMR Biomed 21:138–147
3. Heringer J, Boy SP, Ensenauer R et al (2010) Use of guidelines improves the neurological outcome in glutaric aciduria type I. Ann Neurol 68:743–752
4. Hommes FA (1994) Quality control for selective screening of inborn errors of metabolism. Eur J Pediatr 153:S17–S22
5. Peters V, Garbade SF, Langhans CD et al (2008) Qualitative urinary organic acid analysis: methodological approaches and performance. J Inherit Metab Dis 31:690–696
6. Seashore MR (2001; Update: 2009) The organic acidemias: an overview. In: Pagon RA, Adam MP, Ardinger HH et al (eds) GeneReviews(R). University of Washington, Seattle