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Journal of Inherited Metabolic Disease|December 17, 2014
Mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency: urinary organic acid profiles and expanded spectrum of mutationsJames J Pitt, Heidi Peters, Avihu Boneh, et al.Clinica Chimica Acta; International Journal of Clinical Chemistry|March 8, 2007
High-throughput urine screening for Smith-Lemli-Opitz syndrome and cerebrotendinous xanthomatosis using negative electrospray tandem mass spectrometryJames J PittThe Clinical Biochemist. Reviews|February 19, 2009
Principles and applications of liquid chromatography-mass spectrometry in clinical biochemistryJames J PittClinical Chemistry|October 31, 2002
Comprehensive screening of urine samples for inborn errors of metabolism by electrospray tandem mass spectrometryJames J Pitt, Mary Eggington, Stephen G KahlerJournal of Clinical Neuroscience : Official Journal of the Neurosurgical Society of Australasia|May 22, 2014
Cobalamin E defect, a rare inborn error of vitamin B12 metabolism: value of early diagnosis and treatmentTejaswi Kandula, Heidi Peters, Michael FaheyMass Spectrometry Reviews|December 12, 2002
Protein disulfide bond determination by mass spectrometryJeffrey J Gorman, Tristan P Wallis, James J PittAmerican Journal of Obstetrics and Gynecology|July 13, 2002
Metabolic treatment of pregnancy and postdelivery period in a patient with cobalamin A diseaseAvihu Boneh, Ronda F Greaves, Giuseppe Garra, et al.JIMD Reports|February 25, 2014
4-hydroxyglutamate is a biomarker for primary hyperoxaluria type 3James J Pitt, Frank Willis, Nicholas Tzanakos, et al.Journal of Pediatric Endocrinology & Metabolism : JPEM|February 19, 2018
Smith-Lemli-Opitz syndrome: clinical and biochemical correlatesSarah E Donoghue, James J Pitt, Avihu Boneh, et al.Pageof 6