Steven L Hillman

Rapid diagnosis of MCAD deficiency: quantitative analysis of octanoylcarnitine and other acylcarnitines in newborn blood spots by tandem mass spectrometry

Donald H. Chace, Steven L Hillman, Johan L.K. Van Hove et al. · Clinical Chemistry · 1997 · 284 citations · Full text

Life Sciences, Biochemistry, Clinical Biochemistry +14

Rapid diagnosis of maple syrup urine disease in blood spots from newborns by tandem mass spectrometry

Donald H. Chace, Steven L Hillman, David S. Millington et al. · Clinical Chemistry · 1995 · 220 citations

Life Sciences, Biochemistry, Clinical Biochemistry +12

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

Rapid diagnosis of homocystinuria and other hypermethioninemias from newborns' blood spots by tandem mass spectrometry

Donald H. Chace, Steven L Hillman, David S. Millington et al. · Clinical Chemistry · 1996 · 138 citations · Full text

Medicine, Biochemistry, Pediatrics +13

ENU mutagenesis identifies mice with mitochondrial branched-chain aminotransferase deficiency resembling human maple syrup urine disease

Jer-Yuarn Wu, Hsiao‐Jung Kao, Sing‐Chung Li et al. · Journal of Clinical Investigation · 2004 · 103 citations · Full text

Life Sciences, Biochemistry, Genetics +17