James Pitt

Principles and applications of liquid chromatography-mass spectrometry in clinical biochemistry.

James Pitt · PubMed · 2009 · 369 citations

Liquid Chromatography-mass Spectrometry, Immunology, Biological Mass Spectrometry +20

Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: A worldwide collaborative project

David McHugh, Cynthia A. Cameron, José E. Abdenur et al. · Genetics in Medicine · 2011 · 349 citations · Full text

Metabolic Syndrome, Newborn Screening, Metabolic Disorder +10

Successful Treatment of Molybdenum Cofactor Deficiency Type A With cPMP

Alex Veldman, José Angel Santamaria‐Araujo, Silvio Sollazzo et al. · PEDIATRICS · 2010 · 200 citations

Expanded Newborn Screening: Outcome in Screened and Unscreened Patients at Age 6 Years

Bridget Wilcken, Marion Haas, Pamela Joy et al. · PEDIATRICS · 2009 · 164 citations

ECHS1 mutations in Leigh disease: a new inborn error of metabolism affecting valine metabolism

Heidi Peters, Nicole E. Buck, Ronald J. A. Wanders et al. · Brain · 2014 · 136 citations

Fatal Leigh Disease, Genetics, Molecular Biology +18