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Peter Clayton

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Cathérine C S Delnooz; Philippa B Mills; Marialuisa Quadri; Eric J Steenbergen; Karin Tuschl; Vincenzo Bonifati; Peter T Clayton; Ron A Wevers; Bart P C van de Warrenburg
Phenotypic variability in a dystonia family with mutations in the manganese transporter gene.
Emma J Footitt; Simon J R Heales; Kevin Mills; Viruna Neergheen; Marcus Oppenheim; Peter T Clayton; Philippa B Mills
Measurement of plasma B6 vitamer profiles in children with inborn errors of vitamin B6 metabolism using an LC-MS/MS method.
Philippa B Mills; Paula J Waters; Serkan Ceyhan; Peter T Clayton; Emma J Footitt; Cornelis Jakobs; Eduard A Struys
Urinary AASA excretion is elevated in patients with molybdenum cofactor deficiency and isolated sulphite oxidase deficiency.

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2013: Cathérine C S Delnooz; Philippa B Mills; Marialuisa Quadri; Eric J Steenbergen; Karin Tuschl; Vincenzo Bonifati; Peter T Clayton; Ron A Wevers; Bart P C van de Warrenburg
Phenotypic variability in a dystonia family with mutations in the manganese transporter gene.
Movement disorders : official journal of the Movement Disorder Society 2013;28(5):685-6.
2013: Emma J Footitt; Simon J R Heales; Kevin Mills; Viruna Neergheen; Marcus Oppenheim; Peter T Clayton; Philippa B Mills
Measurement of plasma B6 vitamer profiles in children with inborn errors of vitamin B6 metabolism using an LC-MS/MS method.
Journal of inherited metabolic disease 2013;36(1):139-45.
2012: Philippa B Mills; Paula J Waters; Serkan Ceyhan; Peter T Clayton; Emma J Footitt; Cornelis Jakobs; Eduard A Struys
Urinary AASA excretion is elevated in patients with molybdenum cofactor deficiency and isolated sulphite oxidase deficiency.
Journal of inherited metabolic disease 2012;35(6):1031-6.
2012: Maria Stamelou; Karin Tuschl; Philippa B Mills; Kailash P Bhatia; Andrew K Burroughs; W K Chong; Peter T Clayton
Dystonia with brain manganese accumulation resulting from SLC30A10 mutations: a new treatable disorder.
Movement disorders : official journal of the Movement Disorder Society 2012;27(10):1317-22.
2012: Catherine P K Chong; Christopher Bruce; Paul Gissen; A S Knisely; Patricia McClean; Philippa B Mills; Jens Stahlschmidt; Peter T Clayton
Bile acid-CoA ligase deficiency--a new inborn error of bile acid metabolism.
Journal of inherited metabolic disease 2012;35(3):521-30.
2012: Karin Tuschl; Ron A Wevers; Maha S Zaki; Victoria Price; Reinaldo T Ribeiro; Andrea Rideout; Pratibha Singhi; ROOSY AULAKH; Orlando G Barsottini; W K Kling Chong; Peter T Clayton; Maria Luz Del Rosario; Sarah Dyack; Kevin Gordon; Sidney M Gospe; Shamshad Gulab; Shahnaz Ibrahim; Philippa B Mills
Syndrome of hepatic cirrhosis, dystonia, polycythemia, and hypermanganesemia caused by mutations in SLC30A10, a manganese transporter in man.
American journal of human genetics 2012;90(3):457-66.
2011: Manju A Kurian; Martin Smith; Paul Gissen; Simon Heales; Peter T Clayton
The monoamine neurotransmitter disorders: an expanding range of neurological syndromes.
Lancet neurology 2011;10(8):721-33.
2011: Emma J Footitt; Simon J R Heales; Philippa B Mills; George F G Allen; Marcus Oppenheim; Peter T Clayton
Pyridoxal 5'-phosphate in cerebrospinal fluid; factors affecting concentration.
Journal of inherited metabolic disease 2011;34(2):529-38.
2010: Philippa B Mills; Emma J Footitt; Kevin A Mills; Karin Tuschl; Sarah Aylett; Sophia Varadkar; Cheryl Hemingway; Neil Marlow; Janet Rennie; Peter Baxter; Olivier Dulac; Rima Nabbout; William J Craigen; Bernhard Schmitt; François Feillet; Ernst Christensen; Pascale de Lonlay; Mike G Pike; M Imelda Hughes; Eduard A Struys; Cornelis Jakobs; Sameer M Zuberi; Peter T Clayton
Genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy (ALDH7A1 deficiency).
Brain : a journal of neurology 2010;133(Pt 7):2148-59.
2010: Bernhard Schmitt; Matthias Baumgartner; Philippa B Mills; Peter T Clayton; Cornelis Jakobs; Elmar Keller; Gabriele Wohlrab
Seizures and paroxysmal events: symptoms pointing to the diagnosis of pyridoxine-dependent epilepsy and pyridoxine phosphate oxidase deficiency.
Developmental medicine and child neurology 2010;52(7):e133-42.
2010: Pushpa Subramaniam; Peter T Clayton; Bernard C Portmann; Giorgina Mieli-Vergani; Nedim Hadzić
Variable clinical spectrum of the most common inborn error of bile acid metabolism--3beta-hydroxy-Delta 5-C27-steroid dehydrogenase deficiency.
Journal of pediatric gastroenterology and nutrition 2010;50(1):61-6.
2009: Peter T Clayton; S Grunewald
Comprehensive description of the phenotype of the first case of congenital disorder of glycosylation due to RFT1 deficiency (CDG In).
Journal of inherited metabolic disease 2009;32 Suppl 1():S137-9.
2009: Andrew J Duncan; Maria Bitner-Glindzicz; Brigitte Meunier; Harry Costello; Iain P Hargreaves; Luis Lopez; Michio Hirano; Catarina M Quinzii; Michael I Sadowski; John Hardy; Andrew Singleton; Peter T Clayton; Shamima Rahman
A nonsense mutation in COQ9 causes autosomal-recessive neonatal-onset primary coenzyme Q10 deficiency: a potentially treatable form of mitochondrial disease.
American journal of human genetics 2009;84(5):558-66.
2008: Mirjam M C Wamelink; Eduard A Struys; Gajja S Salomons; Darren Fowler; Cornelis Jakobs; Peter T Clayton
Transaldolase deficiency in a two-year-old boy with cirrhosis.
Molecular genetics and metabolism 2008;94(2):255-8.
2008: Karin Tuschl; Maria Bitner-Glindzicz; Darren Fowler; Marian Malone; Philippa B Mills; Howard Parsons; Peter T Clayton
Hepatic cirrhosis, dystonia, polycythaemia and hypermanganesaemia--a new metabolic disorder.
Journal of inherited metabolic disease 2008;31(2):151-63.
2007: Gajja S Salomons; Levinus A Bok; Eduard A Struys; Lorna Landegge Pope; Patricia S Darmin; Philippa B Mills; Peter T Clayton; Michèl A A P Willemsen; Cornelis Jakobs
An intriguing "silent" mutation and a founder effect in antiquitin (ALDH7A1).
Annals of neurology 2007;62(4):414-8.
2007: Georg F Hoffmann; B Schmitt; M Windfuhr; N Wagner; Henning Strehl; S Bagci; A R Franz; Philippa B Mills; Peter T Clayton; Matthias Baumgartner; Beat Steinmann; Thomas Bast; Nicole I Wolf; Johannes Zschocke
Pyridoxal 5'-phosphate may be curative in early-onset epileptic encephalopathy.
Journal of inherited metabolic disease 2007;30(1):96-9.
2007: Ference J Loupatty; Peter T Clayton; Jos P N Ruiter; Rob Ofman; Lodewijk IJlst; Garry K Brown; David R Thorburn; Robert Harris; Marinus Duran; Carlos Desousa; Steve Krywawych; Simon J R Heales; Ronald J A Wanders
Mutations in the gene encoding 3-hydroxyisobutyryl-CoA hydrolase results in progressive infantile neurodegeneration.
American journal of human genetics 2007;80(1):195-9.
2006: Peter T Clayton
B6-responsive disorders: a model of vitamin dependency.
Journal of inherited metabolic disease 2006;29(2-3):317-26.
2006: Philippa B Mills; Eduard A Struys; Cornelis Jakobs; Barbara Plecko; Peter Baxter; Matthias Baumgartner; Michèl A A P Willemsen; Heymut Omran; Uta Tacke; Birgit Uhlenberg; Bernhard Weschke; Peter T Clayton
Mutations in antiquitin in individuals with pyridoxine-dependent seizures.
Nature medicine 2006;12(3):307-9.
2005: SL Chow; Z J Rooney; M A Cleary; Peter T Clayton; James V Leonard
The significance of elevated CSF lactate.
Archives of disease in childhood 2005;90(11):1188-9.
2005: Khalid Hussain; Peter T Clayton; Steve Krywawych; Ilenia Chatziandreou; Phillipa Mills; D W Ginbey; Ans J J M Geboers; Ruud Berger; Inge E T van den Berg; Simon Eaton
Hyperinsulinism of infancy associated with a novel splice site mutation in the SCHAD gene.
The Journal of pediatrics 2005;146(5):706-8.
2005: Philippa B Mills; Robert Surtees; Michael P Champion; Clare E Beesley; Neil Dalton; Peter J Scambler; Simon J R Heales; Anthony Briddon; Irene Scheimberg; Georg F Hoffmann; Johannes Zschocke; Peter T Clayton
Neonatal epileptic encephalopathy caused by mutations in the PNPO gene encoding pyridox(am)ine 5'-phosphate oxidase.
Human molecular genetics 2005;14(8):1077-86.
2004: Els Schollen; Christian G Frank; Liesbeth Keldermans; R Reyntjens; Claudia E Grubenmann; Peter T Clayton; Bryan Winchester; Jan A M Smeitink; Ron A Wevers; Markus Aebi; Thierry Hennet; Gert Matthijs
Clinical and molecular features of three patients with congenital disorders of glycosylation type Ih (CDG-Ih) (ALG8 deficiency).
Journal of medical genetics 2004;41(7):550-6.
2004: SL Chow; V Gandhi; Steve Krywawych; Peter T Clayton; James V Leonard; Andrew A M Morris
The significance of a high plasma ammonia value.
Archives of disease in childhood 2004;89(6):585-6.
2004: Birgit Wittenstein; Valerie Rogers; Vas Novelli; Peter T Clayton; Mark B Kenny; Mark J Peters
"African medicine" and Reye's syndrome.
Lancet 2004;363(9412):860.
2003: Simon Eaton; I Chatziandreou; Steve Krywawych; S Pen; Peter T Clayton; Khalid Hussain
Short-chain 3-hydroxyacyl-CoA dehydrogenase deficiency associated with hyperinsulinism: a novel glucose-fatty acid cycle?
Biochemical Society transactions 2003;31(Pt 6):1137-9.
2003: Hugh Lemonde; E J Custard; J Bouquet; M Duran; H Overmars; P J Scambler; Peter T Clayton
Mutations in SRD5B1 (AKR1D1), the gene encoding delta(4)-3-oxosteroid 5beta-reductase, in hepatitis and liver failure in infancy.
Gut 2003;52(10):1494-9.
2003: Peter T Clayton; Robert Surtees; C DeVile; K Hyland; Simon J R Heales
Neonatal epileptic encephalopathy.
Lancet 2003;361(9369):1614.
2003: Nicole I Wolf; Shamima Rahman; Peter T Clayton; Johannes Zschocke
Mitochondrial HMG-CoA synthase deficiency: identification of two further patients carrying two novel mutations.
European journal of pediatrics 2003;162(4):279-80.
2003: Kevin Mills; Philippa B Mills; Peter T Clayton; Nasi Mian; Andrew W Johnson; Bryan Winchester
The underglycosylation of plasma alpha 1-antitrypsin in congenital disorders of glycosylation type I is not random.
Glycobiology 2003;13(2):73-85.
2003: Peter T Clayton
Diagnosis of inherited disorders of liver metabolism.
Journal of inherited metabolic disease 2003;26(2-3):135-46.
2003: Philippa B Mills; Kevin Mills; Nasi Mian; Bryan Winchester; Peter T Clayton
Mass spectrometric analysis of glycans in elucidating the pathogenesis of CDG type IIx .
Journal of inherited metabolic disease 2003;26(2-3):119-34.
2002: Peter T Clayton; Aad Verrips; Erik A Sistermans; A Mann; G Mieli-Vergani; Ron A Wevers
Mutations in the sterol 27-hydroxylase gene (CYP27A) cause hepatitis of infancy as well as cerebrotendinous xanthomatosis.
Journal of inherited metabolic disease 2002;25(6):501-13.
2002: Simon A S Pope; Guillaume E Burtin; Peter T Clayton; David J Madge; D P R Muller
Synthesis and analysis of conjugates of the major vitamin E metabolite, alpha-CEHC.
Free radical biology & medicine 2002;33(6):807-17.
2002: Peter T Clayton
Inborn errors presenting with liver dysfunction.
Seminars in neonatology : SN 2002;7(1):49-63.
2001: Kevin Mills; Philippa B Mills; Peter T Clayton; Andrew W Johnson; David Whitehouse; Bryan Winchester
Identification of alpha(1)-antitrypsin variants in plasma with the use of proteomic technology.
Clinical chemistry 2001;47(11):2012-22.
2001: Peter T Clayton; Simon Eaton; Al Aynsley-Green; M Edginton; Khalid Hussain; Steve Krywawych; V Datta; H E Malingre; R Berger; Inge E T van den Berg
Hyperinsulinism in short-chain L-3-hydroxyacyl-CoA dehydrogenase deficiency reveals the importance of beta-oxidation in insulin secretion.
The Journal of clinical investigation 2001;108(3):457-65.
2001: Philippa B Mills; Kevin Mills; Andrew W Johnson; Peter T Clayton; Bryan Winchester
Analysis by matrix assisted laser desorption/ionisation-time of flight mass spectrometry of the post-translational modifications of alpha 1-antitrypsin isoforms separated by two-dimensional polyacrylamide gel electrophoresis.
Proteomics 2001;1(6):778-86.
2001: Simon A S Pope; Guillaume E Burtin; Peter T Clayton; David J Madge; D P R Muller
New synthesis of (+/-)-alpha-CMBHC and its confirmation as a metabolite of alpha-tocopherol (vitamin E).
Bioorganic & medicinal chemistry 2001;9(5):1337-43.
2001: Peter T Clayton
Clinical consequences of defects in peroxisomal beta-oxidation.
Biochemical Society transactions 2001;29(Pt 2):298-305.
2001: Peter T Clayton
Applications of mass spectrometry in the study of inborn errors of metabolism.
Journal of inherited metabolic disease 2001;24(2):139-50.
2000: C J Wilson; K G Van Wyk; James V Leonard; Peter T Clayton
Phenylalanine supplementation improves the phenylalanine profile in tyrosinaemia.
Journal of inherited metabolic disease 2000;23(7):677-83.
2000: Simon A S Pope; Peter T Clayton; D P R Muller
A new method for the analysis of urinary vitamin E metabolites and the tentative identification of a novel group of compounds.
Archives of biochemistry and biophysics 2000;381(1):8-15.
2000: P D Whitfield; Peter T Clayton; D P R Muller
Effect of intravenous lipid emulsions on hepatic cholesterol metabolism.
Journal of pediatric gastroenterology and nutrition 2000;30(5):538-46.
1999: I Mushtaq; Stuart Logan; M Morris; AW Johnson; A M Wade; D Kelly; Peter T Clayton
Screening of newborn infants for cholestatic hepatobiliary disease with tandem mass spectrometry.
BMJ (Clinical research ed.) 1999;319(7208):471-7.
1999: C J Wilson; M P Champion; J E Collins; Peter T Clayton; James V Leonard
Outcome of medium chain acyl-CoA dehydrogenase deficiency after diagnosis.
Archives of disease in childhood 1999;80(5):459-62.
1999: Hugh Lemonde; AW Johnson; Peter T Clayton
The identification of unusual bile acid metabolites by tandem mass spectrometry: use of low-energy collision-induced dissociation to produce informative spectra.
Rapid communications in mass spectrometry : RCM 1999;13(12):1159-64.
1998: Peter T Clayton; M Doig; S Ghafari; C Meaney; C Taylor; J V Leonard; M Morris; A W Johnson
Screening for medium chain acyl-CoA dehydrogenase deficiency using electrospray ionisation tandem mass spectrometry.
Archives of disease in childhood 1998;79(2):109-15.
1998: J S Sequeira; Ashok Vellodi; marie T vanier; Peter T Clayton
Niemann-Pick disease type C and defective peroxisomal beta-oxidation of branched-chain substrates.
Journal of inherited metabolic disease 1998;21(2):149-54.
1998: Andrew A M Morris; Jan-Willem Taanman; J Blake; J Mark Cooper; BD Lake; M Malone; S Love; Peter T Clayton; James V Leonard; Anthony H V Schapira
Liver failure associated with mitochondrial DNA depletion.
Journal of hepatology 1998;28(4):556-63.
1998: K A Mills; I Mushtaq; AW Johnson; P D Whitfield; Peter T Clayton
A method for the quantitation of conjugated bile acids in dried blood spots using electrospray ionization-mass spectrometry.
Pediatric research 1998;43(3):361-8.
1998: Peter T Clayton; P Whitfield; K Iyer
The role of phytosterols in the pathogenesis of liver complications of pediatric parenteral nutrition.
Nutrition (Burbank, Los Angeles County, Calif.) 1998;14(1):158-64.
1997: Andrew A M Morris; Peter T Clayton; R A Surtees; J V Leonard
Clinical outcomes in long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency.
The Journal of pediatrics 1997;131(6):938.
1997: Andrew A M Morris; J S Sequeira; M Malone; SF Slaney; Peter T Clayton
Parent-child transmission of infantile cholestasis with lymphoedema (Aagenaes syndrome).
Journal of medical genetics 1997;34(10):852-3.
1997: Andrew A M Morris; P J Lamont; Peter T Clayton
Pearson's syndrome without marrow involvement.
Archives of disease in childhood 1997;77(1):56-7.
1997: Jan-Willem Taanman; A G Bodnar; J Mark Cooper; Andrew A M Morris; Peter T Clayton; J V Leonard; Anthony H V Schapira
Molecular mechanisms in mitochondrial DNA depletion syndrome.
Human molecular genetics 1997;6(6):935-42.
1996: A W Johnson; K Mills; Peter T Clayton
The use of automated electrospray ionization tandem MS for the diagnosis of inborn errors of metabolism from dried blood spots.
Biochemical Society transactions 1996;24(3):932-8.
1996: Andrew A M Morris; A Thekekara; Z Wilks; Peter T Clayton; James V Leonard; A Aynsley-Green
Evaluation of fasts for investigating hypoglycaemia or suspected metabolic disease.
Archives of disease in childhood 1996;75(2):115-9.
1996: B Lüdecke; Per M Knappskog; Peter T Clayton; Robert Surtees; J D Clelland; S J Heales; MP Brand; K Bartholomé; T Flatmark
Recessively inherited L-DOPA-responsive parkinsonism in infancy caused by a point mutation (L205P) in the tyrosine hydroxylase gene.
Human molecular genetics 1996;5(7):1023-8.
1996: K Mills; H Mandel; R Montemagno; P Soothill; R Gershoni-Baruch; Peter T Clayton
First trimester prenatal diagnosis of Smith-Lemli-Opitz syndrome (7-dehydrocholesterol reductase deficiency).
Pediatric research 1996;39(5):816-9.
1996: Peter T Clayton; K A Mills; A W Johnson; Arrigo Barabino; maria grazia marazzi
Delta 4-3-oxosteroid 5 beta-reductase deficiency: failure of ursodeoxycholic acid treatment and response to chenodeoxycholic acid plus cholic acid.
Gut 1996;38(4):623-8.
1996: Peter T Clayton; A W Johnson; K A Mills; G W Lynes; J Wilson; M Casteels; G Mannaerts
Ataxia associated with increased plasma concentrations of pristanic acid, phytanic acid and C27 bile acids but normal fibroblast branched-chain fatty acid oxidation.
Journal of inherited metabolic disease 1996;19(6):761-8.
1995: J M McGaughran; Peter T Clayton; K A Mills; S Rimmer; L Moore; D Donnai
Prenatal diagnosis of Smith-Lemli-Opitz syndrome.
American journal of medical genetics 1995;56(3):269-71.
1995: Peter T Clayton; M Casteels; G Mieli-Vergani; A M Lawson
Familial giant cell hepatitis with low bile acid concentrations and increased urinary excretion of specific bile alcohols: a new inborn error of bile acid synthesis?
Pediatric research 1995;37(4 Pt 1):424-31.
1994: Peter T Clayton; S Eckhardt; J Wilson; C M Hall; Y Yousuf; R J Wanders; R B Schutgens
Isolated dihydroxyacetonephosphate acyltransferase deficiency presenting with developmental delay.
Journal of inherited metabolic disease 1994;17(5):533-40.
1994: M A Herbert; Peter T Clayton
Phytanic acid alpha-oxidase deficiency (Refsum disease) presenting in infancy.
Journal of inherited metabolic disease 1994;17(2):211-4.
1993: Peter T Clayton; A Bowron; K A Mills; A Massoud; M Casteels; Peter J Milla
Phytosterolemia in children with parenteral nutrition-associated cholestatic liver disease.
Gastroenterology 1993;105(6):1806-13.
1992: K Hyland; Peter T Clayton
Aromatic L-amino acid decarboxylase deficiency: diagnostic methodology.
Clinical chemistry 1992;38(12):2405-10.
1992: K Hyland; Robert Surtees; C Rodeck; Peter T Clayton
Aromatic L-amino acid decarboxylase deficiency: clinical features, diagnosis, and treatment of a new inborn error of neurotransmitter amine synthesis.
Neurology 1992;42(10):1980-8.
1992: S P Horslen; A M Lawson; M Malone; Peter T Clayton
3 beta-hydroxy-delta 5-C27-steroid dehydrogenase deficiency; effect of chenodeoxycholic acid therapy on liver histology.
Journal of inherited metabolic disease 1992;15(1):38-46.
1992: Peter T Clayton; Bryan Winchester; Geoffrey Keir
Hypertrophic obstructive cardiomyopathy in a neonate with the carbohydrate-deficient glycoprotein syndrome.
Journal of inherited metabolic disease 1992;15(6):857-61.
1991: S P Horslen; Peter T Clayton; B N Harding; N A Hall; Geoffrey Keir; Bryan Winchester
Olivopontocerebellar atrophy of neonatal onset and disialotransferrin developmental deficiency syndrome.
Archives of disease in childhood 1991;66(9):1027-32.
1991: James V Leonard; K Hyland; N Furukawa; Peter T Clayton
Mitochondrial phosphoenolpyruvate carboxykinase deficiency.
European journal of pediatrics 1991;150(3):198-9.
1991: Peter T Clayton
Inborn errors of bile acid metabolism.
Journal of inherited metabolic disease 1991;14(4):478-96.
1990: Peter T Clayton; E Patel; Alexander M Lawson; R A Carruthers; J Collins
Bile acid profiles in peroxisomal 3-oxoacyl-coenzyme A thiolase deficiency.
The Journal of clinical investigation 1990;85(4):1267-73.
1990: K Hyland; Peter T Clayton
Aromatic amino acid decarboxylase deficiency in twins.
Journal of inherited metabolic disease 1990;13(3):301-4.
1989: D C Kalter; D J Atherton; Peter T Clayton
X-linked dominant Conradi-Hünermann syndrome presenting as congenital erythroderma.
Journal of the American Academy of Dermatology 1989;21(2 Pt 1):248-56.
1989: Peter T Clayton; D C Kalter; D J Atherton; G T N Besley; D M Broadhead
Peroxisomal enzyme deficiency in X-linked dominant Conradi-Hünermann syndrome.
Journal of inherited metabolic disease 1989;12 Suppl 2():358-60.
1988: Peter T Clayton; E Thompson
Dysmorphic syndromes with demonstrable biochemical abnormalities.
Journal of medical genetics 1988;25(7):463-72.
1988: K Hyland; I Smith; T Bottiglieri; J Perry; U Wendel; Peter T Clayton; J V Leonard
Demyelination and decreased S-adenosylmethionine in 5,10-methylenetetrahydrofolate reductase deficiency.
Neurology 1988;38(3):459-62.
1988: Peter T Clayton; B D Lake; M Hjelm; John Stephenson; G T N Besley; R J Wanders; A W Schram; J M Tager; R B Schutgens; Alexander M Lawson
Bile acid analyses in "pseudo-Zellweger" syndrome; clues to the defect in peroxisomal beta-oxidation.
Journal of inherited metabolic disease 1988;11 Suppl 2():165-8.
1987: Peter T Clayton; B D Lake; N A Hall; D B Shortland; R A Carruthers; A M Lawson
Plasma bile acids in patients with peroxisomal dysfunction syndromes: analysis by capillary gas chromatography-mass spectrometry.
European journal of pediatrics 1987;146(2):166-73.