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T Clayton

Showing results (121-130 of 248) with videos related to

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Molecular Genetics and Metabolism|July 18, 2025
Use of lysine reduction therapies in patients with pyridoxine dependent epilepsy due to Antiquitin deficiency - A cohort studyEmma J Footitt, Chloe Millington, Imogen Newsom-Davis, et al.
BMJ (Clinical Research Ed.)|August 24, 1999
Screening of newborn infants for cholestatic hepatobiliary disease with tandem mass spectrometryI Mushtaq, S Logan, M Morris, et al.
The Journal of Clinical Investigation|December 1, 1990
Lack of 3 beta-hydroxy-delta 5-C27-steroid dehydrogenase/isomerase in fibroblasts from a child with urinary excretion of 3 beta-hydroxy-delta 5-bile acids. A new inborn error of metabolismM S Buchmann, E A Kvittingen, H Nazer, et al.
Archives of Disease in Childhood|May 25, 2004
The significance of a high plasma ammonia valueS L Chow, V Gandhi, S Krywawych, et al.
Archives of Disease in Childhood|October 1, 1993
Cystic fibrosis presenting as kwashiorkor with florid skin rashR J Phillips, C M Crock, M J Dillon, et al.
Lancet (London, England)|February 14, 1987
Ultrastructure of liver in inherited disorders of fat oxidationB D Lake, P T Clayton, J V Leonard, et al.
The British Journal of Ophthalmology|April 1, 1989
Leber's congenital amaurosis--a new syndrome with a cardiomyopathyI M Russell-Eggitt, D S Taylor, P T Clayton, et al.
Journal of Inherited Metabolic Disease|April 9, 2008
Hepatic cirrhosis, dystonia, polycythaemia and hypermanganesaemia--a new metabolic disorderKarin Tuschl, Philippa B Mills, Howard Parsons, et al.
European Journal of Pediatrics|May 1, 1991
Pellagra with colitis due to a defect in tryptophan metabolismP T Clayton, N A Bridges, D J Atherton, et al.
Gut|September 13, 2003
Mutations in SRD5B1 (AKR1D1), the gene encoding delta(4)-3-oxosteroid 5beta-reductase, in hepatitis and liver failure in infancyH A Lemonde, E J Custard, J Bouquet, et al.
Pageof 25

Showing results (121-130 of 248) with videos related to

Sort By:
Pageof 25
Molecular Genetics and Metabolism|July 18, 2025
Use of lysine reduction therapies in patients with pyridoxine dependent epilepsy due to Antiquitin deficiency - A cohort studyEmma J Footitt, Chloe Millington, Imogen Newsom-Davis, et al.
BMJ (Clinical Research Ed.)|August 24, 1999
Screening of newborn infants for cholestatic hepatobiliary disease with tandem mass spectrometryI Mushtaq, S Logan, M Morris, et al.
The Journal of Clinical Investigation|December 1, 1990
Lack of 3 beta-hydroxy-delta 5-C27-steroid dehydrogenase/isomerase in fibroblasts from a child with urinary excretion of 3 beta-hydroxy-delta 5-bile acids. A new inborn error of metabolismM S Buchmann, E A Kvittingen, H Nazer, et al.
Archives of Disease in Childhood|May 25, 2004
The significance of a high plasma ammonia valueS L Chow, V Gandhi, S Krywawych, et al.
Archives of Disease in Childhood|October 1, 1993
Cystic fibrosis presenting as kwashiorkor with florid skin rashR J Phillips, C M Crock, M J Dillon, et al.
Lancet (London, England)|February 14, 1987
Ultrastructure of liver in inherited disorders of fat oxidationB D Lake, P T Clayton, J V Leonard, et al.
The British Journal of Ophthalmology|April 1, 1989
Leber's congenital amaurosis--a new syndrome with a cardiomyopathyI M Russell-Eggitt, D S Taylor, P T Clayton, et al.
Journal of Inherited Metabolic Disease|April 9, 2008
Hepatic cirrhosis, dystonia, polycythaemia and hypermanganesaemia--a new metabolic disorderKarin Tuschl, Philippa B Mills, Howard Parsons, et al.
European Journal of Pediatrics|May 1, 1991
Pellagra with colitis due to a defect in tryptophan metabolismP T Clayton, N A Bridges, D J Atherton, et al.
Gut|September 13, 2003
Mutations in SRD5B1 (AKR1D1), the gene encoding delta(4)-3-oxosteroid 5beta-reductase, in hepatitis and liver failure in infancyH A Lemonde, E J Custard, J Bouquet, et al.
Pageof 25