P. Clayton

发表

Subacute combined degeneration of the cord, dementia and parkinsonism due to an inborn error of folate metabolism.

B. Harding, J. Leonard, K. Hyland, 1986, Journal of neurology, neurosurgery, and psychiatry.

Demyelination and decreased S‐adenosylmethionine in 5.10‐methylenetetrahydrofolate reductase deficiency

T. Bottiglieri, J. Leonard, U. Wendel, 1988, Neurology.

Three patients with the osteochondrodysplasia and hypertrichosis syndrome--Cantu syndrome.

J. Hurst, J. Leonard, C. Hall, 1998, Clinical dysmorphology.

Alström syndrome: Report of 22 cases and literature review

D. Taylor, A. Kriss, P. Clayton, 1998 .

Evaluation of fasts for investigating hypoglycaemia or suspected metabolic disease.

J. Leonard, A. Aynsley-Green, A. Morris, 1996, Archives of disease in childhood.

Impaired neurotransmitter amine metabolism in arginase deficiency.

J. Leonard, K. Hyland, P. Clayton, 1985, Journal of neurology, neurosurgery, and psychiatry.

Greenberg dysplasia (HEM) and lethal X linked dominant Conradi-Hünermann chondrodysplasia punctata (CDPX2): presentation of two cases with overlapping phenotype

S. Bewley, R. Nash, A. Offiah, 2003, Journal of medical genetics.

Mitochondrial phosphoenolpyruvate carboxykinase deficiency

J. Leonard, K. Hyland, P. Clayton, 1986, European Journal of Pediatrics.

Aromatic l-amino acid decarboxylase deficiency

C. Chiriboga, D. D. De Vivo, R. Pons, 2004, Neurology.

Aromatic L-amino acid decarboxylase deficiency: diagnostic methodology.

K. Hyland, P. Clayton, Peter E. Clayton, 1992, Clinical chemistry.

Mutational Spectrum in the D7-Sterol Reductase Gene and Genotype- Phenotype Correlation in 84 Patients with Smith-Lemli-Opitz Syndrome

U. Seedorf, G. Utermann, G. Hoffmann, 2022 .

X-linked dominant Conradi-Hünermann syndrome presenting as congenital erythroderma.

D. Atherton, D. Kalter, P. Clayton, 1989, Journal of the American Academy of Dermatology.

Clinical outcomes in long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency.

R. Surtees, J. Leonard, A. Morris, 1997, The Journal of pediatrics.

ULTRASTRUCTURE OF LIVER IN INHERITED DISORDERS OF FAT OXIDATION

J. Leonard, B. Lake, A. Green, 1987, The Lancet.

Cystic fibrosis presenting as kwashiorkor with florid skin rash.

R. Phillips, J. Harper, M. Dillon, 1993, Archives of disease in childhood.

Aromatic amino acid decarboxylase deficiency in twins

K. Hyland, P. Clayton, Peter E. Clayton, 1990, Journal of Inherited Metabolic Disease.

Anterior segment dysgenesis in mosaic Turner syndrome

I. C. Lloyd, J. Clayton-Smith, D. Donnai, 1997, The British journal of ophthalmology.

A case of reversible blindness in maple syrup urine disease

A. Kriss, I. Russell-Eggitt, D. Thompson, 1999, The British journal of ophthalmology.

The Fabry disease-associated lipid Lyso-Gb3 enhances voltage-gated calcium currents in sensory neurons and causes pain

T. Meert, K. Mills, J. Wood, 2015, Neuroscience Letters.

Irish college of ophthalmologists

J. P. Lee, G. A. Limb, P. Mullaney, 1995 .

Bronze baby syndrome, biliary hypoplasia, incomplete Beckwith-Wiedemann syndrome and partial trisomy 11

I. Moore, P. Clayton, J. Wales, 1986, European Journal of Pediatrics.

Lathosterolosis: A Relatively Mild Case with Cataracts and Learning Difficulties.

J. Clayton-Smith, S. Rust, J. Ashworth, 2018, JIMD reports.

Increased first trimester nuchal translucency as a prenatal manifestation of Smith-Lemli-Opitz syndrome.

K. Nicolaides, J. Hyett, G. Moscoso, 1995, American journal of medical genetics.

Peripheral neuropathy as the presenting feature of tyrosinaemia type I and effectively treated with an inhibitor of 4-hydroxyphenylpyruvate dioxygenase.

S. Lindstedt, E. Holme, P. Clayton, 1993, Journal of neurology, neurosurgery, and psychiatry.

The significance of a high plasma ammonia value

J. Leonard, S. Krywawych, P. Clayton, 2004, Archives of Disease in Childhood.

Leber's congenital amaurosis--a new syndrome with a cardiomyopathy.

D. Taylor, A. Garner, A. Kriss, 1989, The British journal of ophthalmology.

Molecular studies in Portuguese patients with Smith-Lemli-Opitz syndrome and report of three new mutations in DHCR7.

F. Santorelli, M. L. Cardoso, E. Martins, 2005, Molecular genetics and metabolism.

The significance of elevated CSF lactate

J. Leonard, M. Cleary, P. Clayton, 2005, Archives of Disease in Childhood.

Clinical phenotype of desmosterolosis.

R. Winter, K. Mills, M. Porteous, 1998, American journal of medical genetics.

Prenatal diagnosis of Smith-Lemli-Opitz syndrome.

K. Mills, D. Donnai, P. Clayton, 1995, American journal of medical genetics.

Concerning "Agamanolis disease".

N. Mian, P. Clayton, 1995, American journal of medical genetics.

Diagnostic difficulties in a case of primary systemic carnitine deficiency with idiopathic dilated cardiomyopathy.

E. Mercuri, F. Muntoni, M. Kinali, 2004, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

Radon exposure and lung cancer.

K. Mills, J. Neuberger, D. Donnai, 1994 .

Chronic mucormycosis manifesting as hydrocephalus

J. Leonard, P. Clayton, 2022 .

Phenylalanine supplementation improves the phenylalanine profile in tyrosinaemia

J. Leonard, P. Clayton, C. Wilson, 2000, Journal of Inherited Metabolic Disease.

Pearson’s syndrome without marrow involvement

P. Lamont, A. Morris, P. Clayton, 1997, Archives of disease in childhood.

3-Hydroxy-3-methylglutaryl-CoA lyase deficiency

J. Leonard, J. Walter, P. Clayton, 1986, Journal of Inherited Metabolic Disease.

Comprehensive description of the phenotype of the first case of congenital disorder of glycosylation due to RFT1 deficiency (CDG In)

P. Clayton, S. Grunewald, P. Clayton, 2009, Journal of Inherited Metabolic Disease.

Richner-Hanhart Syndrome (Oculo-Cutaneous Tyrosinaemia, Tyrosinaemia Type II)

A. Bowron, J. Harper, P. Clayton, 1992, Journal of the Royal Society of Medicine.

Diagnosis of Smith-Lemli-Opitz syndrome.

K. Mills, D. Donnai, P. Clayton, 1994, The New England journal of medicine.

Mitochondrial phosphoenolpyruvate carboxykinase deficiency

J. Leonard, K. Hyland, P. Clayton, 2005, European Journal of Pediatrics.

Niemann–Pick disease type C and defective peroxisomal β-oxidation of branched-chain substrates

A. Vellodi, M. Vanier, P. Clayton, 1998, Journal of Inherited Metabolic Disease.