High-throughput urine screening for Smith-Lemli-Opitz syndrome and cerebrotendinous xanthomatosis using negative electrospray tandem mass spectrometry

Clinica Chimica Acta

Volumn 380, Issue 1-2, 2007, Pages 81-88

  Pitt, James J ^a  

^a ROYAL CHILDREN'S HOSPITAL   (Australia)

Author keywords

Cerebrotendinous xanthomatosis; Smith Lemli Opitz syndrome; Tandem mass spectrometry; Urine screening

Indexed keywords

7 DEHYDROCHOLESTEROL; AMINO ACID; BILE ACID; CHOLESTANE PENTOL GLUCURONIDE; CHOLESTEROL; GLUCURONIDE; STEROID; STEROL 27 HYDROXYLASE; UNCLASSIFIED DRUG;

ADULT; AMINO ACID METABOLISM; ARTICLE; CEREBROTENDINOUS XANTHOMATOSIS; CHILD; CHOLESTEROL METABOLISM; CLINICAL ARTICLE; CONTROLLED STUDY; ELECTROSPRAY MASS SPECTROMETRY; ENZYME DEFICIENCY; GENETIC DISORDER; HIGH THROUGHPUT SCREENING; HUMAN; INBORN ERROR OF METABOLISM; MASS SPECTROMETER; NEWBORN; PRIORITY JOURNAL; QUADRUPOLE MASS SPECTROMETRY; SCREENING TEST; SMITH LEMLI OPITZ SYNDROME; TANDEM MASS SPECTROMETRY; URINALYSIS;

ADULT; BIOLOGICAL MARKERS; CHILD; CONTROL GROUPS; HUMANS; INFANT; MASS SCREENING; SMITH-LEMLI-OPITZ SYNDROME; SPECTROMETRY, MASS, ELECTROSPRAY IONIZATION; TANDEM MASS SPECTROMETRY; URINALYSIS; XANTHOMATOSIS, CEREBROTENDINOUS;

EID: 33947659915     PISSN: 00098981     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.cca.2007.01.016     Document Type: Article

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