Open Access6-Pyruvoyltetrahydropterin synthase deficiency diagnosed in tandem mass spectrometry-based newborn screening
Author(s) -
Mohsain Essa,
Pinar Özand,
Mohamed S. Rashed
Publication year - 1998
Publication title -
eastern mediterranean health journal/eastern mediterranean health journal
Language(s) - Uncategorized
Resource type - Journals
SCImago Journal Rank - 0.442
H-Index - 47
eISSN - 1687-1634
pISSN - 1020-3397
DOI - 10.26719/1998.4.3.593
Subject(s) - newborn screening , tandem mass spectrometry , medicine , atp synthase , mass spectrometry , pediatrics , chemistry , enzyme , biochemistry , chromatography