Preliminary investigation of the use of newborn dried blood spots for screening pyridoxine-dependent epilepsy by LC-MS/MS

Molecular Genetics and Metabolism

Volumn 110, Issue 3, 2013, Pages 237-240

  Jung, Sunhee ^a   Tran, Nguyen Thao B ^a   Gospe, Sidney M ^a,b   Hahn, Si Houn ^a,b  

^a SEATTLE CHILDREN S RESEARCH INSTITUTE   (United States)

^b UNIVERSITY OF WASHINGTON SCHOOL OF MEDICINE   (United States)

Author keywords

Aminoadipic semialdehyde ( AASA); Dried blood spots (DBS); Newborn screening (NBS); Piperideine 6 carboxylate; Pyridoxine dependent epilepsy (PDE)

Indexed keywords

ALPHA AMINOADIPIC SEMIALDEHYDE; BIOCHEMICAL MARKER; PIPERIDEINE 6 CARBOXYLATE; UNCLASSIFIED DRUG;

ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; DRIED BLOOD SPOT TESTING; EPILEPSY; FEASIBILITY STUDY; HUMAN; NEWBORN; NEWBORN SCREENING; PRIORITY JOURNAL; PYRIDOXINE DEPENDENT EPILEPSY; QUADRUPOLE MASS SPECTROMETRY; RETROSPECTIVE STUDY; ROOM TEMPERATURE; STORAGE TEMPERATURE; TANDEM MASS SPECTROMETRY; ULTRA PERFORMANCE LIQUID CHROMATOGRAPHY;

DBS; DRIED BLOOD SPOTS; DRIED BLOOD SPOTS (DBS); NBS; NEWBORN SCREENING; NEWBORN SCREENING (NBS); P6C; PDE; PIPERIDEINE-6-CARBOXYLATE; PYRIDOXINE-DEPENDENT EPILEPSY; PYRIDOXINE-DEPENDENT EPILEPSY (PDE); Α-AASA; Α-AMINOADIPIC SEMIALDEHYDE (Α-AASA); Α-AMINOADIPIC SEMIALDEHYDE ANTIQUITIN;

2-AMINOADIPIC ACID; BIOLOGICAL MARKERS; CHROMATOGRAPHY, LIQUID; EPILEPSY; FEMALE; HUMANS; INFANT, NEWBORN; MALE; NEONATAL SCREENING; RETROSPECTIVE STUDIES; TANDEM MASS SPECTROMETRY;

EID: 84885432983     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2013.07.017     Document Type: Article

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