Elevated concentrations of sedoheptulose in bloodspots of patients with cystinosis caused by the 57-kb deletion: Implications for diagnostics and neonatal screening

Molecular Genetics and Metabolism

Volumn 102, Issue 3, 2011, Pages 339-342

  Wamelink, M M C ^a   Struys, E A ^a   Jansen, E E W ^a   Blom, H J ^a   Vilboux, T ^b   Gahl, W A ^b   Komhoff M ^c   Jakobs, C ^a   Levtchenko, E N ^d  

^a VU UNIVERSITY MEDICAL CENTER   (Netherlands)

^b NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

^c UNIVERSITY MEDICAL CENTER GRONINGEN   (Netherlands)

^d UNIVERSITY HOSPITALS LEUVEN   (Belgium)

Author keywords

57 kb deletion; Cystinosis; Dried bloodspots; LC MS MS; Sedoheptulose

Indexed keywords

BENZYL DERIVATIVE; CARBOHYDRATE DERIVATIVE; FLUORINE DERIVATIVE; GENE PRODUCT; HYDROXYLAMINE; PENTAFLUOROBENZYL HYDROXYLAMINE; SEDOHEPTULOKINASE; SEDOHEPTULOSE; UNCLASSIFIED DRUG;

ANALYTIC METHOD; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CLINICAL ARTICLE; CONTROLLED STUDY; CTNS GENE; CYSTINOSIS; DERIVATIZATION; GENE; GENE DELETION; GENE MUTATION; HOMOZYGOSITY; HUMAN; LIQUID CHROMATOGRAPHY; LYSOSOME STORAGE DISEASE; NETHERLANDS; NEWBORN; NEWBORN SCREENING; PRIORITY JOURNAL; QUANTITATIVE ANALYSIS; SCREENING TEST; SHPK GENE; TANDEM MASS SPECTROMETRY; URINE LEVEL;

AMINO ACID TRANSPORT SYSTEMS, NEUTRAL; CYSTINOSIS; GENE DELETION; HEPTOSES; HUMANS; INFANT, NEWBORN; NEONATAL SCREENING; PHOSPHOTRANSFERASES (ALCOHOL GROUP ACCEPTOR); REPRODUCIBILITY OF RESULTS; SENSITIVITY AND SPECIFICITY; TANDEM MASS SPECTROMETRY; TRANSCRIPTION FACTORS;

EID: 79851510475     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2010.12.002     Document Type: Article

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