Diagnostic screening for spermine synthase deficiency by liquid chromatography tandem mass spectrometry

Clinica Chimica Acta

Volumn 412, Issue 7-8, 2011, Pages 655-660

  Sowell, John ^a   Norris, Joy ^a   Jones, Kelly ^a   Schwartz, Charles ^a   Wood, Tim ^a  

^a GREENWOOD GENETIC CENTER   (United States)

Author keywords

Liquid chromatography; Snyder Robinson syndrome; Spermidine; Spermine; Spermine synthase; Tandem mass spectrometry

Indexed keywords

SPERMIDINE; SPERMINE; SPERMINE SYNTHASE;

ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; DIAGNOSTIC VALUE; HETEROZYGOTE; HUMAN; HUMAN CELL; LIQUID CHROMATOGRAPHY; LYMPHOBLAST; PRIORITY JOURNAL; PROCESS DEVELOPMENT; SCREENING TEST; SNYDER ROBINSON SYNDROME; TANDEM MASS SPECTROMETRY; X CHROMOSOME LINKED DISORDER;

CHROMATOGRAPHY, HIGH PRESSURE LIQUID; CHROMATOGRAPHY, LIQUID; HUMANS; MENTAL RETARDATION, X-LINKED; SPERMINE SYNTHASE; TANDEM MASS SPECTROMETRY;

EID: 79551489212     PISSN: 00098981     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.cca.2010.12.037     Document Type: Article

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