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Rodney J. Pollitt

Observed names: R J Pollitt, R Pollitt, R. J. POLLITT, R. J. Pollitt, R. Pollitt, R.J Pollitt, R.J. Pollitt, RJ Pollitt, RODNEY J. POLLITT, Rj. Pollitt, Rodney J Pollitt, Rodney Pollitt, RodneyJ Pollitt
Observed institutions: University of Helsinki, University of Aberdeen, The Open University, Royal Victoria Infirmary, Royal Hallamshire Hospital, Royal Aberdeen Children's Hospital, Whiteley Clinic, Sheffield Children's NHS Foundation Trust, Sheffield Children's Hospital, University of Birmingham, Medical Research Council, University of Sheffield
OpenAlex ID: A5111366142
Aspartylglycosaminuria
1968 · R.J. Pollitt, F.A. Jenner, et al. · The Lancet · 266
European best practice guidelines for cystic fibrosis neonatal screening
2009 · Carlo Castellani, Kevin W. Southern, et al. · Journal of Cystic Fibrosis · 254
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A survey of newborn screening for cystic fibrosis in Europe
2006 · Kevin W. Southern, Anne Munck, et al. · Journal of Cystic Fibrosis · 251
Mutations in TTC37 Cause Trichohepatoenteric Syndrome (Phenotypic Diarrhea of Infancy)
2010 · Jane Louise Hartley, Nicholas C. Zachos, et al. · Gastroenterology · 155
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A comparison of [9,10‐3H]palmitic and [9,10‐3H]myristic acids for the detection of defects of fatty acid oxidation in intact cultured fibroblasts
1989 · N. J. Manning, S. E. Olpin, et al. · Journal of Inherited Metabolic Disease · 152
The epidemiology of medium chain acyl-CoA dehydrogenase deficiency: An update
2006 · Scott D. Grosse, Muin J. Khoury, et al. · Genetics in Medicine · 148
Human liver long-chain 3-hydroxyacyl-coenzyme a dehydrogenase is a multifunctional membrane-bound beta-oxidation enzyme of mitochondria
1992 · Karen Carpenter, Rodney J. Pollitt, et al. · Biochemical and Biophysical Research Communications · 144
Sibs with mental and physical retardation and trichorrhexis nodosa with abnormal amino acid composition of the hair.
1968 · R. J. Pollitt, F. A. Jenner, et al. · Archives of Disease in Childhood · 144
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NovelOCTN2mutations: No genotype–phenotype correlations: Early carnitine therapy prevents cardiomyopathy
2002 · Anne‐Marie Lamhonwah, Simon E. Olpin, et al. · American Journal of Medical Genetics · 121
Prospective surveillance study of medium chain acyl-CoA dehydrogenase deficiency in the UK
1998 · R J Pollitt, J V Leonard · Archives of Disease in Childhood · 121
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Identification of a common mutation in patients with medium-chain acyl-CoA dehydrogenase deficiency
1990 · Yoichi Matsubara, Kuniaki Narisawa, et al. · Biochemical and Biophysical Research Communications · 108
Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency
1991 · Sandra Jackson, Kim Bartlett, et al. · Pediatric Research · 107
Disorders of mitochondrial long‐chain fatty acid oxidation
1995 · R. J. Pollitt · Journal of Inherited Metabolic Disease · 87
Urinary organic acids in succinic semialdehyde dehydrogenase deficiency: Evidence of α‐oxidation of 4‐hydroxybutyric acid, interaction of succinic semialdehyde with pyruvate dehydrogenase and possible secondary inhibition of mitochondrial β‐oxidation
1987 · G. K. Brown, C. H. Cromby, et al. · Journal of Inherited Metabolic Disease · 83
Molecular Analysis and Prenatal Diagnosis of Human Fumarase Deficiency
1998 · Eleanor M. Coughlin, Ernst Christensen, et al. · Molecular Genetics and Metabolism · 78
International perspectives on newborn screening
2006 · R. J. Pollitt · Journal of Inherited Metabolic Disease · 76
Biotin-responsive Alopecia and Developmental Regression
1979 · BrendanM. Charles, Gwilym Hosking, et al. · The Lancet · 74
Frequency of the G985 MCAD mutation in the general population
1991 · AlexandraI.F Blakemore, Helen Singleton, et al. · The Lancet · 73
Unexplained diarrhoea and failure to thrive in 2 siblings with unusual facies and abnormal scalp hair shafts: a new syndrome.
1982 · L Stankler, D Lloyd, et al. · Archives of Disease in Childhood · 71
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Introducing new screens: Why are we all doing different things?
2007 · R. J. Pollitt · Journal of Inherited Metabolic Disease · 69
Excessive excretion of β‐alanine and of 3‐hydroxypropionic, R ‐ and S ‐3‐aminoisobutyric, R ‐ and S ‐3‐hydroxyisobutyric and S ‐2‐(hydroxymethyl)butyric acids probably due to a defect in the metabolism of the corresponding malonic semialdehydes
1984 · R. J. Pollitt, A. Green, et al. · Journal of Inherited Metabolic Disease · 68
Identity of a Urinary “Pink Spot” in Schizophrenia and Parkinson's Disease
1967 · ALAN A. BOULTON, R. J. POLLITT, et al. · Nature · 67
Pyroglutamicaciduria From Vigabatrin
1989 · J.K. Bonham, J.M. Rattenbury, et al. · The Lancet · 60
Molecular characterization of methylmalonate semialdehyde dehydrogenase deficiency
2000 · K. L. Chambliss, R. G. F. Gray, et al. · Journal of Inherited Metabolic Disease · 59
Improved detection of long‐chain fatty acid oxidation defects in intact cells using [9,10‐3H]oleic acid
1997 · S. E. Olpin, N. J. Manning, et al. · Journal of Inherited Metabolic Disease · 58
Works count: 200
Citation count: 5,286
H-index: 38
I10-index: 109
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