Response to Stove and colleagues concerning newborn screening of succinic semialdehyde dehydrogenase (SSADH) deficiency in dried blood spots

Molecular Genetics and Metabolism

Volumn 110, Issue 1-2, 2013, Pages 196-

  Forni, Sabrina ^a   Pearl, Phillip L ^b   Gibson, K Michael ^c   Yu, Yuezhou ^b   Sweetman, Lawrence ^a  

^a BAYLOR UNIVERSITY MEDICAL CENTER   (United States)

^b CHILDREN'S NATIONAL MEDICAL CENTER   (United States)

^c WASHINGTON STATE UNIVERSITY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

4 HYDROXYBUTYRIC ACID; ALDEHYDE DEHYDROGENASE; ALDH5A1 PROTEIN; CARBOXYLIC ACID; DNA; SUCCINATE SEMIALDEHYDE DEHYDROGENASE; UNCLASSIFIED DRUG; HYDROXYBUTYRIC ACID;

BLOOD ANALYSIS; DNA SEQUENCE; DRIED BLOOD SPOT TESTING; ENZYME BLOOD LEVEL; ENZYME DEFICIENCY; FEASIBILITY STUDY; GENE EXPRESSION; GENE MUTATION; GENETIC ANALYSIS; HUMAN; LETTER; LIQUID CHROMATOGRAPHY; LIQUID CHROMATOGRAPHY TANDEM MASS SPECTROMETRY; MASS FRAGMENTOGRAPHY; MOLECULAR GENETICS; NEWBORN SCREENING; PREDICTIVE VALUE; PRIORITY JOURNAL; SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY; TANDEM MASS SPECTROMETRY; URINALYSIS; BLOOD; DEFICIENCY;

HUMANS; HYDROXYBUTYRATES; NEONATAL SCREENING; SUCCINATE-SEMIALDEHYDE DEHYDROGENASE;

EID: 84882863587     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2013.06.018     Document Type: Letter

References (4)

1. Stove C.P., Ingels A.-S.M., Lambert W.E. Mol. Genet. Metab. 2013, 110:195. Letter to the Editor.
2. Ingels A.M.E., Lambert W.E., Stove C.P. Determination of gamma-hydroxybutyric acid in dried blood spots using a simple GC-MS method with direct "on spot" derivatization. Anal. Bioanal. Chem. 2010, 398:2173-2182.
3. Ingels A.S., De Paepe P., Anseeuw K., Van Sassenbroeck D.K., Neels H., Lambert W.E., Stove C.P. Dried blood spot punches for confirmation of suspected gamma-hydroxybutyric acid intoxications: validation of an optimized GC-MS procedure. Bioanalysis 2011, 3:2271-2281.
4. Forni S., Pearl P.L., Gibson K.M., Yu Y., Sweetman L. Quantitation of gamma-hydroxybutyric acid in dried blood spots: feasibility assessment for newborn screening of succinic semialdehyde dehydrogenase (SSADH) deficiency. Mol. Genet. Metab. 2013, 109:255-259.