Loupatty, F.J., Clayton, P.T., Ruiter, J.P.N., Ofman, R., IJlst, L., Brown, G.K., ...
Only a single patient with 3-hydroxyisobutyryl-CoA hydrolase deficiency has been described in the literature, and the molecular basis of this inborn error of valine catabolism has remained unknown...
Loupatty, F.J., Clayton, P.T., Ruiter, J.P.N., Ofman, R., Ijlst, L., Brown, G.K., ...
Only a single patient with 3-hydroxyisobutyryl-CoA hydrolase deficiency has been described in the literature, and the molecular basis of this inborn error of valine catabolism has remained unknown...
Mutations in antiquitin in individuals with pyridoxine-dependent seizures (2006)
Mills, P.B., Struys, E., Jakobs, C., Plecko, B., Baxter, P., Baumgartner, M., ...
We show here that children with pyridoxine-dependent seizures (PDS) have mutations in the ALDH7A1 gene, which encodes antiquitin; these mutations abolish the activity of antiquitin as a...
Rees, D.C., Iolascon, A., Carella, M., O'Marcaigh, A.S., Kendra, J.R., Jowitt, S.N., ...
Phytosterolaemia (sitosterolaemia) is a recessively inherited metabolic condition in which the absorption of both cholesterol and plant-derived cholesterol-like molecules at the gut is unselective...
Mills, P.B., Surtees, R.A.H., Champion, M.P., Beesley, C.E., Dalton, N., Scambler, P.J., ...
In the mouse, neurotransmitter metabolism can be regulated by modulation of the synthesis of pyridoxal 5'-phosphate and failure to maintain pyridoxal phosphate (PLP) levels results in epilepsy. This...
Mills, P.B., Surtees, R.A.H., Champion, M.P., Beesley, C.E., Dalton, N., Scambler, P.J., ...
In the mouse, neurotransmitter metabolism can be regulated by modulation of the synthesis of pyridoxal 5'-phosphate and failure to maintain pyridoxal phosphate (PLP) levels results in epilepsy. This...
Lemonde, H.A., Custard, E.J., Bouquet, J., Duran, M., Overmars, H., Scambler, P.J., ...
Background: A substantial group of patients with cholestatic liver disease in infancy excrete, as the major urinary bile acids, the glycine and taurine conjugates of 7α-hydroxy-3-oxo-4-cholenoic...
Synthesis and analysis of conjugates of the major vitamin E metabolite, α-CEHC (2002)
Pope, S.A.S., Burtin, G.E., Clayton, P.T., Madge, D.J., Muller, D.P.R.
Glucuronide and sulphate conjugates of 2,5,7,8-tetramethyl-2-(2′-carboxyethyl)-6-hydroxychroman (-CEHC), the major metabolite of -tocopherol (vitamin E), have been synthesized and used for the...
Mills, K., Mills, P.B., Clayton, P.T., Johnson, A.W., Whitehouse, D.B., Winchester, B.G.
Background: Proteomic technology permits the investigation of genetic metabolic diseases at the level of protein expression. Changes in the expression, polypeptide structure, and posttranslational...
Clayton, P.T., Eaton, S., Aynsley-Green, A., Edginton, M., Hussain, K., Krywawych, S., ...
A female infant of nonconsanguineous Indian parents presented at 4 months with a hypoglycemic convulsion. Further episodes of hypoketotic hypoglycemia were associated with inappropriately elevated...
Mills, P., Mills, K., Johnson, A.W., Clayton, P.T., Winchester, B.G.
The state of protein glycosylation in terms of occupation of potential N-linked glycosylation sites (macroheterogeneity) and type of glycosylation at that site (microheterogeneity) is important when...
Substance use by U.S. and Dutch dental students: preliminary findings (1998)
Webster, D., Pruitt, T., Clayton, P.T., Plasschaert, A.J.M., Hoogstraten, J.
Prevalence of substance use by Dutch dental students: preliminary findings (1998)
Plasschaert, A.J.M., Hoogstraten, J., Webster, D., Clayton, P.T.
Bile acid profiles in peroxisomal 3-oxoacyl-coenzyme A thiolase deficiency.
Clayton, P T, Patel, E, Lawson, A M, Carruthers, R A, Collins, J
Fast atom bombardment mass spectrometry and gas chromatography-mass spectrometry were used to analyze bile acids in the body fluids of an infant (L.C.) whose liver contained no immunoreactive...
Buchmann, M S, Kvittingen, E A, Nazer, H, Gunasekaran, T, Clayton, P T, Sjövall, J, ...
Cultured fibroblasts were shown to be capable of catalyzing the conversion of 7 alpha-hydroxy-cholesterol to 7 alpha-hydroxy-4-cholesten-3-one, an important reaction in bile acid synthesis. The...
Clayton, P T, Leonard, J V, Lawson, A M, Setchell, K D, Andersson, S, Egestad, B, ...
Urinary bile acids from a 3-mo-old boy with cholestatic jaundice were analyzed by ion exchange chromatography and gas chromatography-mass spectrometry (GC-MS). This suggested the presence of labile...
The bile acid composition of gastric contents from neonates with high intestinal obstruction.
Clayton, P T, Muller, D P, Lawson, A M
The study was designed to identify 'atypical' bile acids in gastric contents from three neonates with high intestinal obstruction on the basis that this was likely to represent a rich source of...
Bile acid profiles in peroxisomal 3-oxoacyl-coenzyme A thiolase deficiency.
Clayton, P T, Patel, E, Lawson, A M, Carruthers, R A, Collins, J
Fast atom bombardment mass spectrometry and gas chromatography-mass spectrometry were used to analyze bile acids in the body fluids of an infant (L.C.) whose liver contained no immunoreactive...
Buchmann, M S, Kvittingen, E A, Nazer, H, Gunasekaran, T, Clayton, P T, Sjövall, J, ...
Cultured fibroblasts were shown to be capable of catalyzing the conversion of 7 alpha-hydroxy-cholesterol to 7 alpha-hydroxy-4-cholesten-3-one, an important reaction in bile acid synthesis. The...
Clayton, P T, Leonard, J V, Lawson, A M, Setchell, K D, Andersson, S, Egestad, B, ...
Urinary bile acids from a 3-mo-old boy with cholestatic jaundice were analyzed by ion exchange chromatography and gas chromatography-mass spectrometry (GC-MS). This suggested the presence of labile...
The bile acid composition of gastric contents from neonates with high intestinal obstruction.
Clayton, P T, Muller, D P, Lawson, A M
The study was designed to identify 'atypical' bile acids in gastric contents from three neonates with high intestinal obstruction on the basis that this was likely to represent a rich source of...
Clayton, P T, Mills, K A, Johnson, A W, Barabino, A, Marazzi, M G
BACKGROUND--In some infants with liver disease, 3-oxo-delta 4 bile acids are the major bile acids in urine, a phenomenon attributed to reduced activity of the delta 4-3-oxosteroid 5 beta-reductase...
Lemonde, H A, Custard, E J, Bouquet, J, Duran, M, Overmars, H, Scambler, P J, ...
Background: A substantial group of patients with cholestatic liver disease in infancy excrete, as the major urinary bile acids, the glycine and taurine conjugates of 7α-hydroxy-3-oxo-4-cholenoic...
Leber's congenital amaurosis--a new syndrome with a cardiomyopathy.
Russell-Eggitt, I M, Taylor, D S, Clayton, P T, Garner, A, Kriss, A, Taylor, J F
Seven members of four families had nystagmus noted by 4 months of age, poor vision, photophobia, and a markedly reduced or absent electroretinogram. Six of these patients had a life threatening...
Gibbs, T C, Payan, J, Brett, E M, Lindstedt, S, Holme, E, Clayton, P T
A 21 month old girl presented with a short history of frequent falls and a right sided foot drop. She went on to suffer recurrent episodes of distal weakness in her arms and legs with hyporeflexia....
Parental origin of Gs alpha gene mutations in Albright's hereditary osteodystrophy.
Wilson, L C, Oude Luttikhuis, M E, Clayton, P T, Fraser, W D, Trembath, R C
Heterozygous mutations of the Gs alpha gene leading to reduced Gs alpha activity have been identified in patients with Albright's hereditary osteodystrophy (AHO). However, AHO may be associated with...
Clayton, P T, Smith, I, Harding, B, Hyland, K, Leonard, J V, Leeming, R J
A 2-year-old girl with 5,10-methylenetetrahydrofolate reductase deficiency developed subacute combined degeneration of the cord and a leuco-encephalopathy which was confirmed at necropsy. Total...
Dysmorphic syndromes with demonstrable biochemical abnormalities.
Many inborn errors of metabolism are associated with dysmorphic manifestations. In this review, we have attempted to correlate the dysmorphic features with the underlying metabolic defect or its...
Parent-child transmission of infantile cholestasis with lymphoedema (Aagenaes syndrome).
Morris, A A, Sequeira, J S, Malone, M, Slaney, S F, Clayton, P T
We report a mother and daughter with features of Aagenaes syndrome. Unlike most previous cases, there is no Norwegian ancestry and the pedigree favours dominant rather than recessive inheritance.
Cystic fibrosis presenting as kwashiorkor with florid skin rash.
Phillips, R J, Crock, C M, Dillon, M J, Clayton, P T, Curran, A, Harper, J I
Two infants with a florid erythematous rash and generalised oedema, hypoalbuminaemia, and anaemia were found to have cystic fibrosis. This rare presentation is associated with false negative sweat...
Evaluation of fasts for investigating hypoglycaemia or suspected metabolic disease.
Morris, A A, Thekekara, A, Wilks, Z, Clayton, P T, Leonard, J V, Aynsley-Green, A
AIM--To assess the value and safety of fasts for investigating hypoglycaemia or suspected metabolic disease. STUDY DESIGN--Review of all diagnostic fasts performed over a 2.5 year period....
Horslen, S P, Clayton, P T, Harding, B N, Hall, N A, Keir, G, Winchester, B
Two brothers presented with olivopontocerebellar atrophy of neonatal onset. The clinical features (failure to thrive, hypotonia, liver disease, effusions, and visual inattention) were similar to...