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P T Clayton

Showing results (81-90 of 101) with videos related to

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JIMD Reports|August 12, 2018
Lathosterolosis: A Relatively Mild Case with Cataracts and Learning DifficultiesR Anderson, S Rust, J Ashworth, et al.
Archives of Disease in Childhood|November 3, 1998
Screening for medium chain acyl-CoA dehydrogenase deficiency using electrospray ionisation tandem mass spectrometryP T Clayton, M Doig, S Ghafari, et al.
Neurology|April 14, 2004
Aromatic L-amino acid decarboxylase deficiency: clinical features, treatment, and prognosisR Pons, B Ford, C A Chiriboga, et al.
Lancet (London, England)|June 4, 1988
3-Oxo-delta 4 bile acids in liver diseaseP T Clayton, E Patel, A M Lawson, et al.
Journal of Medical Genetics|December 20, 2003
Greenberg dysplasia (HEM) and lethal X linked dominant Conradi-Hünermann chondrodysplasia punctata (CDPX2): presentation of two cases with overlapping phenotypeA C Offiah, S Mansour, I Jeffrey, et al.
Journal of Inherited Metabolic Disease|January 1, 1990
A bifunctional protein with deficient enzymic activity: identification of a new peroxisomal disorder using novel methods to measure the peroxisomal beta-oxidation enzyme activitiesR J Wanders, C W van Roermund, A Schelen, et al.
Human Molecular Genetics|June 1, 1997
Molecular mechanisms in mitochondrial DNA depletion syndromeJ W Taanman, A G Bodnar, J M Cooper, et al.
Hepatology (Baltimore, Md.)|November 1, 1994
Hereditary tyrosinemia type I: a new clinical classification with difference in prognosis on dietary treatmentF J van Spronsen, Y Thomasse, G P Smit, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|July 21, 2004
Diagnostic difficulties in a case of primary systemic carnitine deficiency with idiopathic dilated cardiomyopathyM Kinali, S E Olpin, P T Clayton, et al.
Human Molecular Genetics|July 1, 1996
Recessively inherited L-DOPA-responsive parkinsonism in infancy caused by a point mutation (L205P) in the tyrosine hydroxylase geneB Lüdecke, P M Knappskog, P T Clayton, et al.
Pageof 11

Showing results (81-90 of 101) with videos related to

Sort By:
Pageof 11
JIMD Reports|August 12, 2018
Lathosterolosis: A Relatively Mild Case with Cataracts and Learning DifficultiesR Anderson, S Rust, J Ashworth, et al.
Archives of Disease in Childhood|November 3, 1998
Screening for medium chain acyl-CoA dehydrogenase deficiency using electrospray ionisation tandem mass spectrometryP T Clayton, M Doig, S Ghafari, et al.
Neurology|April 14, 2004
Aromatic L-amino acid decarboxylase deficiency: clinical features, treatment, and prognosisR Pons, B Ford, C A Chiriboga, et al.
Lancet (London, England)|June 4, 1988
3-Oxo-delta 4 bile acids in liver diseaseP T Clayton, E Patel, A M Lawson, et al.
Journal of Medical Genetics|December 20, 2003
Greenberg dysplasia (HEM) and lethal X linked dominant Conradi-Hünermann chondrodysplasia punctata (CDPX2): presentation of two cases with overlapping phenotypeA C Offiah, S Mansour, I Jeffrey, et al.
Journal of Inherited Metabolic Disease|January 1, 1990
A bifunctional protein with deficient enzymic activity: identification of a new peroxisomal disorder using novel methods to measure the peroxisomal beta-oxidation enzyme activitiesR J Wanders, C W van Roermund, A Schelen, et al.
Human Molecular Genetics|June 1, 1997
Molecular mechanisms in mitochondrial DNA depletion syndromeJ W Taanman, A G Bodnar, J M Cooper, et al.
Hepatology (Baltimore, Md.)|November 1, 1994
Hereditary tyrosinemia type I: a new clinical classification with difference in prognosis on dietary treatmentF J van Spronsen, Y Thomasse, G P Smit, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|July 21, 2004
Diagnostic difficulties in a case of primary systemic carnitine deficiency with idiopathic dilated cardiomyopathyM Kinali, S E Olpin, P T Clayton, et al.
Human Molecular Genetics|July 1, 1996
Recessively inherited L-DOPA-responsive parkinsonism in infancy caused by a point mutation (L205P) in the tyrosine hydroxylase geneB Lüdecke, P M Knappskog, P T Clayton, et al.
Pageof 11