| Principles and applications of liquid chromatography-mass spectrometry in clinical biochemistry JJ Pitt The Clinical Biochemist Reviews 30 (1), 19, 2009 | 1094 | 2009 |
| Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: a worldwide collaborative project D McHugh, CA Cameron, JE Abdenur, M Abdulrahman, O Adair, ... Genetics in Medicine 13 (3), 230-254, 2011 | 389 | 2011 |
| Protein disulfide bond determination by mass spectrometry JJ Gorman, TP Wallis, JJ Pitt Mass spectrometry reviews 21 (3), 183-216, 2002 | 304 | 2002 |
| Successful treatment of molybdenum cofactor deficiency type A with cPMP A Veldman, JA Santamaria-Araujo, S Sollazzo, J Pitt, R Gianello, ... Pediatrics 125 (5), e1249-e1254, 2010 | 208 | 2010 |
| Expanded newborn screening: outcome in screened and unscreened patients at age 6 years B Wilcken, M Haas, P Joy, V Wiley, F Bowling, K Carpenter, ... Pediatrics 124 (2), e241-e248, 2009 | 199 | 2009 |
| Newborn screening JJ Pitt The Clinical Biochemist Reviews 31 (2), 57, 2010 | 173 | 2010 |
| ECHS1 mutations in Leigh disease: a new inborn error of metabolism affecting valine metabolism H Peters, N Buck, R Wanders, J Ruiter, H Waterham, J Koster, ... Brain 137 (11), 2903-2908, 2014 | 143 | 2014 |
| Comprehensive screening of urine samples for inborn errors of metabolism by electrospray tandem mass spectrometry JJ Pitt, M Eggington, SG Kahler Clinical chemistry 48 (11), 1970-1980, 2002 | 132 | 2002 |
| Mitochondrial carbonic anhydrase VA deficiency resulting from CA5A alterations presents with hyperammonemia in early childhood CD van Karnebeek, WS Sly, CJ Ross, R Salvarinova, J Yaplito-Lee, ... The American Journal of Human Genetics 94 (3), 453-461, 2014 | 114 | 2014 |
| VLCAD deficiency: pitfalls in newborn screening and confirmation of diagnosis by mutation analysis A Boneh, BS Andresen, N Gregersen, M Ibrahim, N Tzanakos, H Peters, ... Molecular genetics and metabolism 88 (2), 166-170, 2006 | 114 | 2006 |
| A missense mutation in ALDH18A1, encoding Δ1-pyrroline-5-carboxylate synthase (P5CS), causes an autosomal recessive neurocutaneous syndrome LS Bicknell, J Pitt, S Aftimos, R Ramadas, MA Maw, SP Robertson European journal of human genetics 16 (10), 1176-1186, 2008 | 111 | 2008 |
| Transient 5-oxoprolinuria and high anion gap metabolic acidosis: clinical and biochemical findings in eleven subjects JJ Pitt, S Hauser Clinical chemistry 44 (7), 1497-1503, 1998 | 104 | 1998 |
| Fasting hypoketotic coma in a child with deficiency of mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase GN Thompson, BYL Hsu, JJ Pitt, E Treacy, CA Stanley New England Journal of Medicine 337 (17), 1203-1207, 1997 | 91 | 1997 |
| Metabolic profiling of infant urine using comprehensive two-dimensional gas chromatography: application to the diagnosis of organic acidurias and biomarker discovery KA Kouremenos, J Pitt, PJ Marriott Journal of Chromatography A 1217 (1), 104-111, 2010 | 84 | 2010 |
| Perinatal hypophosphatasia presenting as neonatal epileptic encephalopathy with abnormal neurotransmitter metabolism secondary to reduced co‐factor pyridoxal‐5′‐phosphate … S Balasubramaniam, F Bowling, K Carpenter, J Earl, J Chaitow, J Pitt, ... Journal of Inherited Metabolic Disease: Official Journal of the Society for …, 2010 | 82 | 2010 |
| Metabolite studies in HIBCH and ECHS1 defects: Implications for screening H Peters, S Ferdinandusse, JP Ruiter, RJA Wanders, A Boneh, J Pitt Molecular genetics and metabolism 115 (4), 168-173, 2015 | 80 | 2015 |
| A knock-out mouse model for methylmalonic aciduria resulting in neonatal lethality H Peters, M Nefedov, J Sarsero, J Pitt, KJ Fowler, S Gazeas, SG Kahler, ... Journal of Biological Chemistry 278 (52), 52909-52913, 2003 | 77 | 2003 |
| Clinical, biochemical and metabolic characterisation of a mild form of human short-chain enoyl-CoA hydratase deficiency: significance of increased N-acetyl-S-(2-carboxypropyl … K Yamada, K Aiba, Y Kitaura, Y Kondo, N Nomura, Y Nakamura, ... Journal of Medical Genetics 52 (10), 691-698, 2015 | 75 | 2015 |
| Trimethylaminuria, fish odour syndrome: a new method of detection and response to treatment with metronidazole E Treacy, D Johnson, JJ Pitt, DM Danks Journal of inherited metabolic disease 18, 306-312, 1995 | 73 | 1995 |
| Proteomic and metabolomic analyses of mitochondrial complex I-deficient mouse model generated by spontaneous B2 short interspersed nuclear element (SINE) insertion into NADH … DW Leong, JC Komen, CA Hewitt, E Arnaud, M McKenzie, B Phipson, ... Journal of Biological Chemistry 287 (24), 20652-20663, 2012 | 72 | 2012 |
