A GC/MS-based metabolomic approach for reliable diagnosis of phenylketonuria

A SIMPLE PHENYLALANINE METHOD FOR DETECTING PHENYLKETONURIA IN LARGE POPULATIONS OF NEWBORN INFANTS

Robert Guthrie, Ada Susi · PEDIATRICS · 1963 · 2.2K citations

Medicine, Pediatrics, Early Detection +7

Rapid diagnosis of phenylketonuria by quantitative analysis for phenylalanine and tyrosine in neonatal blood spots by tandem mass spectrometry

Donald H. Chace, David S. Millington, Naoto Terada et al. · Clinical Chemistry · 1993 · 375 citations

Life Sciences, Biochemistry, Pediatrics +14

Large neutral amino acids block phenylalanine transport into brain tissue in patients with phenylketonuria

Joachim Pietz, Roland Kreis, André Rupp et al. · Journal of Clinical Investigation · 1999 · 294 citations · Full text

Life Sciences, Biochemistry, Pharmacology +17

Use of phenylalanine-to-tyrosine ratio determined by tandem mass spectrometry to improve newborn screening for phenylketonuria of early discharge specimens collected in the first 24 hours

Donald H. Chace, John Sherwin, Steven L Hillman et al. · Clinical Chemistry · 1998 · 182 citations · Full text

Medicine, Pediatrics, Early Detection +14

Gas chromatography–mass spectrometry method for determination of phenylalanine and tyrosine in neonatal blood spots

Chunhui Deng, Yonghui Deng, Bin Wang et al. · Journal of Chromatography B · 2002 · 111 citations

Natural Sciences, Biochemistry, Pediatrics +7