Hyperhydroxyprolinaemia detected in newborn screening with tandem mass spectrometry

Journal of Inherited Metabolic Disease

Volumn 27, Issue 6, 2004, Pages 781-782

  Baykal, T ^a   Karaaslan, I ^b   Gokcay, G ^a   Demir, F ^a   Laleli, Y ^b   Demirkol, M ^a  

^a ISTANBUL UNIVERSITY   (Turkey)

^b Duzen Laboratories   (Turkey)

Author keywords

[No Author keywords available]

Indexed keywords

HYDROXYPROLINE; LEUCINE;

AMINO ACID ANALYSIS; AMINO ACID BLOOD LEVEL; ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; CASE REPORT; DIAGNOSTIC ACCURACY; DIAGNOSTIC VALUE; FEMALE; HUMAN; HYPERPROLINEMIA; INFANT; MAPLE SYRUP URINE DISEASE; NEWBORN SCREENING; PATHOGENESIS; QUANTITATIVE ANALYSIS; SENSITIVITY AND SPECIFICITY; TANDEM MASS SPECTROMETRY; BLOOD; DISORDERS OF AMINO ACID AND PROTEIN METABOLISM; MASS SPECTROMETRY; NEWBORN; TURKEY (REPUBLIC);

AMINO ACID METABOLISM, INBORN ERRORS; FEMALE; HUMANS; HYDROXYPROLINE; INFANT, NEWBORN; MASS SPECTROMETRY; NEONATAL SCREENING; TURKEY;

EID: 7244240724     PISSN: 01418955     EISSN: None     Source Type: Journal    
DOI: 10.1023/B:BOLI.0000045839.08631.9d     Document Type: Article

References (3)

1. Carpenter KH, Wiley V (2002) Application of tandem mass spectrometry to biochemical genetics and newborn screening. Clin Chim Acta 322 1-10.
2. Chace DH, Hillman SL, Millington DS, et al (1995) Rapid diagnosis of maple syrup urine disease in blood spots from newborns by tandem mass spectrometry. Clin Chem 41: 62-68.
3. Phang JM, Hu CA, Valle D (2001) Disorders of proline and hydroxyproline metabolism. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds; Childs B, Kinzler KW, Vogelstein B, assoc. eds. The Metabolic and Molecular Bases of Inherited Disease, 8th edn. New York: McGraw-Hill, 1821-1838.