Biological mass spectrometry centre

Publications relevant to mass spectrometry from ICH

Recent publications

Growth associated protein (GAP-43): Cloning and the development of a sensitive ELISA for neurological disorders.

Gnanapavan S, Yousaf N, Heywood W, Grant D, Mills K, Chernajovsky Y, Keir G, Giovannoni G.

J Neuroimmunol. 2014 Jul 23. pii: S0165-5728(14)00223-9.


A new method for the rapid diagnosis of protein N-linked congenital disorders of glycosylation.

Heywood WE, Mills P, Grunewald S, Worthington V, Jaeken J, Carreno G, Lemonde H, Clayton PT, Mills K.

J Proteome Res. 2013 Jul 5;12(7):3471-9.

Progression in multiple sclerosis is associated with low endogenous NCAM.

Gnanapavan S, Ho P, Heywood W, Jackson S, Grant D, Rantell K, Keir G, Mills K, Steinman L, Giovannoni G.

J Neurochem. 2013 Jun;125(5):766-73.

The identification of new biomarkers for identifying and monitoring kidney disease and their translation into a rapid mass spectrometry-based test: evidence of presymptomatic kidney disease in pediatric Fabry and type-I diabetic patients.

Manwaring V, Heywood WE, Clayton R, Lachmann RH, Keutzer J, Hindmarsh P, Winchester B, Heales S, Mills K.

J Proteome Res. 2013 May 3;12(5):2013-21. 


The identification of a new role for LEKTI in the skin: The use of protein 'bait' arrays to detect defective trafficking of dermcidin in the skin of patients with Netherton syndrome.

Bennett K, Heywood W, Di WL, Harper J, Clayman GL, Jayakumar A, Callard R, Mills K.

J Proteomics. 2012 Jul 16;75(13):3925-37. 

The development of a peptide SRM-based tandem mass spectrometry assay for prenatal screening of Down syndrome.

Heywood W, Wang D, Madgett TE, Avent ND, Eaton S, Chitty LS, Mills K.

J Proteomics. 2012 Jun 18;75(11):3248-57

Syndrome of Hepatic Cirrhosis, Dystonia, Polycythemia, and Hypermanganesemia Caused by Mutations in SLC30A10, a Manganese Transporter in Man.

Tuschl K, Clayton PT, Gospe SM Jr, Gulab S, Ibrahim S, Singhi P, Aulakh R, Ribeiro RT, Barsottini OG, Zaki MS, Del Rosario ML, Dyack S, Price V, Rideout A, Gordon K, Wevers RA, Kling Chong WK, Mills PB.

Am J Hum Genet. 2012 Feb 15.


2D DIGE analysis of maternal plasma for potential biomarkers of Down Syndrome.

Heywood WE, Madgett TE, Wang D, Wallington A, Hogg J, Mills K, Avent ND.

Proteome Sci. 2011 Sep 19;9:56.

Bile acid-CoA ligase deficiency-a new inborn error of bile acid metabolism.

Chong CP, Mills PB, McClean P, Gissen P, Bruce C, Stahlschmidt J, Knisely AS, Clayton PT.

J Inherit Metab Dis. 2011 Nov 17.

Pyridoxal 5'-phosphate in cerebrospinal fluid; factors affecting concentration.

Footitt EJ, Heales SJ, Mills PB, Allen GF, Oppenheim M, Clayton PT.

J Inherit Metab Dis. 2011 Apr;34(2):529-38. Epub 2011 Feb 9.


New role for LEKTI in skin barrier formation: label-free quantitative proteomic identification of caspase 14 as a novel target for the protease inhibitor LEKTI.

Bennett K, Callard R, Heywood W, Harper J, Jayakumar A, Clayman GL, Di WL, Mills K. J Proteome Res. 2010 Aug 6;9(8):4289-94.

Application of label-free absolute quantitative proteomics in human gingival crevicular fluid by LC/MS E (gingival exudatome).

Bostanci N, Heywood W, Mills K, Parkar M, Nibali L, Donos N.

J Proteome Res. 2010 May 7;9(5):2191-9.

Genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy (ALDH7A1 deficiency).

Mills PB, Footitt EJ, Mills KA, Tuschl K, Aylett S, Varadkar S, Hemingway C, Marlow N, Rennie J, Baxter P, Dulac O, Nabbout R, Craigen WJ, Schmitt B, Feillet F, Christensen E, De Lonlay P, Pike MG, Hughes MI, Struys EA, Jakobs C, Zuberi SM, Clayton PT.

Brain. 2010 Jul;133(Pt 7):2148-59. Epub 2010 Jun 16.

Seizures and paroxysmal events: symptoms pointing to the diagnosis of pyridoxine-dependent epilepsy and pyridoxine phosphate oxidase deficiency.

Schmitt B, Baumgartner M, Mills PB, Clayton PT, Jakobs C, Keller E, Wohlrab G.

Dev Med Child Neurol. 2010 Jul;52(7):e133-42. Epub 2010 Mar 29

Hepatic cirrhosis, dystonia, polycythaemia and hypermanganesaemia-A new metabolic disorder.

Tuschl K, Mills PB, Parsons H, Malone M, Fowler D, Bitner-Glindzicz M, Clayton PT.

J Inherit Metab Dis. 2008 Apr 4.

An intriguing "silent" mutation and a founder effect in antiquitin (ALDH7A1).

Salomons GS, Bok LA, Struys EA, Pope LL, Darmin PS, Mills PB, Clayton PT, Willemsen MA, Jakobs C.

Ann Neurol. 2007 Oct;62(4):414-8.

Pyridoxal 5'-phosphate may be curative in early-onset epileptic encephalopathy.

Hoffmann GF, Schmitt B, Windfuhr M, Wagner N, Strehl H, Bagci S, Franz AR, Mills PB, Clayton PT, Baumgartner MR, Steinmann B, Bast T, Wolf NI, Zschocke J.

J Inherit Metab Dis. 2007 Feb;30(1):96-9. Epub 2006 Dec 23.

Diagnosis of congenital disorders of glycosylation type-I using protein chip technology.

Mills K, Mills P, Jackson M, Worthington V, Beesley C, Mann A, Clayton P, Grunewald S, Keir G, Young L, Langridge J, Mian N, Winchester B.

Proteomics. 2006 Apr;6(7):2295-304.


Burditt LJ, Chotai K, Hirani S, Nugent PG, Winchester BG, Blakemore WF (1980). Biochemical studies on a case of feline mannosidosis. Biochem J. 189:467 – 473.


Clayton P T, Muller D P R & Lawson A M. (1982) The bile acid composition of gastric contents from neonates with high intestinal obstruction. Biochem J 206:489-498.


Abraham DJ, Sidebotham R, Winchester BG, Dorling PR, Dell A (1983). Swainsonine affects the processing of glycoproteins in vivo. FEBS Letter 163:110-113.


Abraham D, Blakemore WF, Dell A, Herrtage ME, Jones J, Littlewood JT, Oates J, Palmer AC, Sidebotham R, Winchester BG (1984). The enzymic defect and storage products in canine fucosidosis. Biochem J. 221:25-33.


Abraham D, Daniel P, Dell A, Oates J, Sidebotham R, Winchester BG (1986). Structural analysis of the major urinary oligosaccharides in feline α–mannosidosis. J Biochem. 233:899-904.

Dell A, Palmer AC, Tiller PR, Winchester BG (1986). GM1 gangliosidosis (type 1) in a cat.  C. Barker, W.F. Blakemore, Biochem J. 235:151-158.

Lawson AM, Madigan MJ, Shortland DB, Clayton PT (1986) Rapid diagnosis of Zellweger syndrome and infantile Refsum disease by fast atom bombardment of urine bile salts. Clin Chim Acta 161:221-231.

Walter JH, Clayton PT & Leonard JV (1986) 3-Hydroxy-3-methyl-glutaryl-CoA lyase deficiency. J Inher Metab Dis 9:287-288.


Clayton P T, Lake B D, Hall N A, Shortland D B, Carruthers R A & Lawson A M. (1987) Plasma bile acids in patients with peroxisomal dysfunction syndromes; analysis by capillary gas chromatography - mass spectrometry. Eur J Pediatr 146:166-173.

Clayton P T, Leonard J V, Lawson A M, Setchell K D R, Andersson S, Egestad B & Sjövall J (1987). Familial giant cell hepatitis associated with synthesis of 3b,7a-dihydroxy- and 3b,7a,12a-trihydroxy-5-cholenoic acids. J Clin Invest 79:1031-1038.

Clayton P T, Lawson A M, Setchell K D R, Andersson S H G, Egestad B & Sjövall J (1987). A new inborn error of bile acid biosynthesis. In Paumgartner G, Stiehl A &  Gerok W, Eds. Bile Acids and the Liver. MTP Press (Kluwer). Lancaster Pp 259-268.

Lake B D, Clayton P T, Leonard J V, Bhuiyan A K M, Bartlett K, Aynsley-Green A. (1987). Ultrastructure of the liver in inherited disorders of fat oxidation.  Lancet 1987i:382-383. (Letter)

Lawson A M, Madigan M J & Clayton P T. (1987). Abnormal bile salts in patients with peroxisomal dysfunction. Analysis by fast atom bombardment mass spectrometry (FAB-MS) and gas chromatography mass spectrometry (GC-MS). In Paumgartner G, Stiehl A &  Gerok W, Eds. Bile Acids and the Liver. MTP Press (Kluwer). Lancaster Pp 269-276


Barker C, Dell A, Rogers M, Alhadeff J, Winchester BG (1988). Canine α–L–fucosidase in relation to the enzymic defect and storage products in canine fucosidosis. Biochem J. 254:861-868. 

Clayton P T, Lake B D, Hjelm M, Stephenson R B P, Besley G T N, Wanders R J A, Schram A W, Tager J M, Schutgens R B H & Lawson A M. (1988). Bile acids in pseudo-Zellweger sydrome; clues to the defect in peroxisomal b-oxidation. J Inher Metab Dis 11:165-168.

Clayton P T, Patel E, Lawson A M, Carruthers R A, Tanner M S, Strandvik B, Egestad B & Sjövall J.(1988). 3-Oxo-delta-4 bile acids in liver disease. Lancet 1988i:1283-1284 (Letter)


Buchmann M S, Kvittingen E A, Nazer H, Gunasekaran T, Clayton P T, Sjövall J & Björkhem I. (1990). Lack of 3b-hydroxy-D5-C27-steroid dehydrogenase / isomerase in fibroblasts from a child with urinary excretion of 3b-hydroxy-D5 bile acids. A new inborn error of bile acid synthesis. J Clin Invest 86:2034-2037.

Clayton P T, Patel E, Lawson A M, Carruthers R A & Collins J. (1990). Bile acid profiles in peroxisomal 3-oxoacyl-CoA thiolase deficiency. J Clin Invest 85:1267-1273

Hyland K & Clayton P T. (1990). Aromatic amino acid decarboxylase deficiency in twins. J Inher Metab Dis 13:301-304.

Ichimiya H, Nazer H, Gunasekaran T, Clayton P & Sjövall J. (1990). Chenodeoxycholic acid treatment of chronic liver disease due to 3b-hydroxy-D5-C27-steroid dehydrogenase deficiency. Arch Dis Child 65:1121-1124.

Wanders R J A, van Roermund C W T, Schelen A, Schutgens R B H, Tager J M, Stephenson R B P & Clayton P T. (1990). A bifunctional protein with deficient enzyme activity: Identification of a new peroxisomal disorder using novel methods to measure the peroxisomal b-oxidation enzyme activities. J Inher Metab Dis 13:375-379


Clayton P T (1991). Inborn errors of bile acid metabolism. J Inher Metab Dis 14:478-496.

Ichimiya H, Egestad B, Nazer H, Baginski E S, Clayton P T & Sjövall J (1991). Bile acids and alcohols in a child with hepatic 3b-hydroxy-D5-C27-steroid dehydrogenase deficiency; effects of chenodeoxycholic acid treatment. J Lipid Res 32:829-841


Horslen S P, Lawson A M, Malone M & Clayton P T (1992). 3b-Hydroxy-D5-C27-steroid dehydrogenase deficiency; effect of chenodeoxycholic acid treament on liver histology. J Inher Metab Dis 15:38-46.

Hyland K & Clayton P T (1992). Aromatic L-aminoacid decarboxylase deficiency: Diagnostic methodology. Clin Chem 38:2405-2410

Hyland K, Surtees R, Rodeck C & Clayton P T (1992). Aromatic L-aminoacid decarboxylase deficiency: Clinical features, diagnosis and treatment of a new inborn error of neurotransmitter amine synthesis. Neurology 42:1980-1988.

Salt A, Barnes N D, Rolles K, Calne R Y, Clayton P T & Leonard J V (1992). Liver transplantation in tyrosinaemia type I: the dilemma of timing the operation. Acta Pediatr 81:449-452


Clayton P T, Bowron A, Mills K A, Massoud A, Casteels M & Milla P J (1993). Phytosterolaemia in children with parenteral nutrition-associated cholestatic liver disease. Gastroenterology 105:1806-1813.

Gibbs T, Payan P J, Brett E M, Lindstedt S, Holme E & Clayton P T (1993). Peripheral neuropathy as the presenting feature of tyrosinaemia type I and effectively treated with an inhibitor of 4-hydroxyphenylpyruvate dioxygenase. J Neurol Neurosurg Psychiatr 56:1129-1132.


Clayton P T (1994). D4-3-oxosteroid 5b-reductase deficiency and neonatal hemochroma- tosis. J Pediatr. 125:845-846. (Letter).

Herbert M A & Clayton P T (1994). Phytanic acid a-oxidase deficiency (Refsum disease) presenting in infancy. J Inher Metab Dis 17:211-214

McGaughran J, Donnai D, Clayton P, Mills K A (1994). Diagnosis of Smith-Lemli-Opitz syndrome. New Engl J Med 330:1685-1686 (Letter)

Noble-Jamieson G, Jamieson N, Clayton P, Bailey S, Ryalls M & Barnes N D (1994).  Neurological crisis in hereditary tyrosinaemia and complete reversal after liver transplantation. Arch Dis Child 70:544-545.

Van Spronsen F J, Thomasse Y, Smit G P A, Leonard J V, Clayton P T, Fidler V, Berger R & Heymans H S A  (1994) Hereditary tyrosinaemia type I: A new clinical classification with differences in prognosis on dietary treatment.  Hepatology 20:1187-1191

Clayton P T, Eckhardt S, Wilson J M, Hall C M, Yousuf Y, Wanders R J A & Schutgens R B H (1994). Isolated dihydroxyacetone phosphate acyl transferase deficiency presenting with developmental delay. J Inher Metab Dis 17:533-540.


Clayton P T (1995). Bile acid metabolism in children with hepatobiliary disease. International Pediatrics 10:44-50.

Clayton P T, Casteels M, Mieli-Vergani G & Lawson A M (1995). 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? Pediatr Res 37:424-431.

Hyett J A, Clayton P T, Moscoso G & Nicolaides K H (1995). Increased first trimester nuchal tranlucency as a prenatal manifestation of Smith-Lemli-Opitz syndrome. Am J Med Genet 58: 374-376

Kvittingen E A, Clayton P T & Leonard J V (1995). Tyrosinaemia.  In  Fernandes J, Saudubray J-M, Van den Berghe G (Eds). Inherited Metabolic Diseases. Diagnosis and Treatment. 2nd Edition. Springer-Verlag, Berlin. Pp161-166


Clayton P T (1996). Disorders of bile acid synthesis. In Blau N, Duran M, Blascovics M (Eds) A physician's guide to the laboratory diagnosis of inherited metabolic disease. Chapman & Hall, London. Pp 453-466.

Clayton P T, Johnson A W, Mills K A, Lynes G W, Wilson J, Casteels M & Mannaerts G (1996). Ataxia associated with increased plasma concentrations of pristanic acid, phytanic acid and C27 bile acids but normal fibroblast branched chain fatty acid oxidation. J Inher Metab Dis. 19:761-768.

Clayton P T, Mills K A, Johnson A W, Barabino A & Marazzi M G (1996). D4-3-Oxosteroid 5b-reductase deficiency: Failure of ursodeoxycholic acid therapy and response to chenodeoxycholic acid plus cholic acid. Gut 38:623-6.

Clayton P, Mills K, Keeling J & FitzPatrick D (1996). Desmosterolosis - a new inborn error of cholesterol biosynthesis. Lancet  348:404. (Letter)

Johnson AW, Mills K & Clayton PT (1996). The use of automated electrospray ionisation mass spectrometry for the diagnosis of inborn errors of metabolism. Biochem Soc Trans24:934-938.

Lüdecke B, Knappskog PM, Clayton PT, Surtees RAH, Clelland JD, Heales SJR, Brand MP, Bartholomé K & Flatmark T (1996). Recessively inherited L-DOPA-responsive parkinsonism in infancy caused by a point mutation (L205P) in the tyrosine hydroxylase gene. Hum Mol Genet 5:1023-1028

Mills K, Mandel H, Montemagno R, Soothill P, Gershoni-Baruch R & Clayton P T. (1996). First trimester prenatal diagnosis of Smith-Lemli-Opitz syndrome (7-dehydro-cholesterol reductase deficiency) Pediatr Res  39:816-819.


Morris AAM, Leonard JV and Clayton PT (1997). Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. J Pediatr. 131:938.


Clayton PT (1998). Disorders of cholesterol synthesis. Arch Dis Child 78:185-189.

Clayton PT, Doig M, Ghafari S, Meaney C, Taylor C, Leonard JV & Johnson AW (1998).  Screening for medium chain acyl-CoA dehydrogenase deficiency using electrospray- ionisation tandem mass spectrometry. Arch Dis Child 79:109-115.

Clayton PT, Whitfield P & Iyer K (1998). The role of phytosterols in the pathogenesis of liver complications of pediatric parenteral nutrition. Nutrition 14:158-164.

FitzPatrick DR, Keeling JW, Evans MJ, Kan AE, Bell JE, Porteous MEM, Mills K, Winter RM & Clayton PT (1998). Clinical phenotype of desmosterolosis. Am J Med Genet. 75:145-152.

Iyer KR, Spitz L & Clayton P (1998). New insights into parenteral nutrition-associated cholestasis: the role of plant sterols. J Pediatr Surg 33:1-6.

Mills K, Mushtaq I, Johnson A, Whitfield P & Clayton PT (1998). A method for the quantitation of conjugated bile acids in dried blood spots using electrospray ionisation - mass spectrometry. Pediatr Res 43:361-368

Ryan AK, Bartlett K, Clayton P, Eaton S, Mills K, Donnai D, Winter R & Burn J (1998). Smith-Lemli-Opitz syndrome: a variable phenotype. J Med Genet 35:558-565

Sequeira JSS, Vellodi A, Vanier MT & Clayton PT (1998). Niemann-Pick type C disease and defective peroxisomal b-oxidation of branched chain substrates. J Inher Metab Dis. 21:149-154.

van Grunsven EG, van Berkel E, Lemonde H, Clayton PT & Wanders RJA (1998). Bifunctional protein deficiency: Complementation within the same group suggesting differential enzyme defects and clues to the underlying basis. J Inher Metab Dis 21:298-301

van Grunsven I, van Berkel E, Ijlst L, Vreken P, deKlerk JBC, Adamski J, Clayton PT, Lemonde H, Cuebas DA and Wanders RJA. (1998). Peroxisomal D-hydroxyacyl-CoA dehydrogenase deficiency, a new peroxisomal disorder: resolution of the enzyme defect and its molecular basis. Proc Natl Acad Sci USA 95:2128-2133.


Akobeng AK, Clayton PT, Miller V, Super M & Thomas AG (1999). An inborn error of bile acid synthesis (3b-hydroxy-D5-C27-steroid dehydrogenase deficiency) presenting as malabsorption leading to rickets. Arch Dis Child 80:463-465.

Clayton PT & Logan S (1999). Screening of newborn infants for cholestatic hepatobiliary disease. Authors' reply. BMJ 319:1436. Letter

Lemonde HA, Johnson AW & Clayton PT (1999). The identification of unusual bile acid metabolites by tandem mass spectrometry: use of low-energy collision-induced dissociation to produce informative spectra. Rapid Comm Mass Spectr. 13:1159-64

Mushtaq I, Logan S, Morris M, Johnson AW, Wade AM, Kelly D, Clayton PT (1999). Screening of newborn infants for hepatobiliary disease with tandem mass spectrometry. BMJ. 319:471-477.

Wilson CJ, Champion MP, Collins JE, Clayton PT & Leonard JV (1999). Outcome of medium chain acyl-CoA dehydrogenase deficiency following diagnosis. Arch Dis Child 80: 459-462.


Clayton P T (2000). Inborn errors of bile acid synthesis.  In  Fernandes J, Saudubray J-M, Van den Berghe G (Eds). Inherited Metabolic Diseases. Diagnosis and Treatment. 3rd Edition. Springer-Verlag, Berlin. Pp 344-351.

Mills KA, Johnson AW, Diettrich O, Clayton PT & Winchester BG (2000). A strategy for the identification of site-specific glycosylation in proteins using MALDI TOF MS. Tetrahedron: Asymmetry 11:75-93

Ferdinandusse S, Denis S, Clayton PT, Graham A, Rees JE, Allen JT, McLean BN, Brown AY, Vreken P, Waterham HR & Wanders RJA (2000). Mutations in the gene encoding alpha-methyl-CoA racemase cause adult-onset sensory motor neuropathy.  Nat Genet 24:188-191.

Mills K, Johnson AW, Diettrich O, Clayton PT, Winchester BG. (2000) A strategy for identification of site-specific glycosylation in glycoproteins using MALDI-TOF MS. Tetrahedron Asymmetry 11:75-93

Pope SAS, Clayton PT, Muller DPR. A new method for the analysis of urinary vitamin E metabolites and the tentative identification of a novel group of compounds. Arch Biochem Biophys. (2000), 381, 8-15

Whitfield P, Johnson AW, Dunn KA, Delauche AJN, Winchester BG, Franklin RJM. (2000) GM1-gangliosiodsis in a cross-bred dog confirmed by detection of GM1- ganglioside using electrospray ionisation-tandem mass spectrometry. Acta Neuropathologica 100:409-414.

Whitfield PD, Clayton PT and Muller DPR. (2000). The effect of intravenous lipid emulsions on hepatic cholesterol metabolism. J Ped Gastroenterol Nutr 30:538-546.

Witsch-Baumgartner M, Fitzky BU, Ogorelkova M, Kraft HG, Moebius F , Glossmann H, Seedorf U, Gilessen-Kaesbach G, Hoffmann GF, Clayton P, Kelley RI & Utermann G. (2000). Mutational spectrum in the D7 sterol reductase gene and phenotype-genotype correlation in 84 patients with Smith-Lemli-Opitz syndrome. Am J Hum Genet 66:402-12.

Olpin SE, Allen J, Bonham JR, Clark S, Clayton PT, Calvin J, Downing M, Ives K, Jones S, Manning NJ, Pollitt RJ, Standing SJ & Tanner MS. (2000). Features of carnitine palmitoyl transferase type I deficiency. J Inher Metab Dis 24:35-42.


Clayton PT, Eaton S, Aynsely-Green A, Edginton M, Hussain K, Krywawych S, Datta V, Malingré HEM, Berger R, van den Berg IET (2001). Hyperinsulinism in short-chain L-3-hydroxyacyl-CoA dehydrogenase deficiency reveals the importance of beta-oxidation in the control of insulin secretion. J Clin Invest. 108:457-65.

Clayton PT (2001). Applications of mass spectrometry in the study of inborn errors of metabolism. J Inher Metab Dis 24:139-150

Clayton PT (2001). Clinical consequences of disorders of peroxisomal b-oxidation. Biochem Soc Trans 29:298-305.

Mills P, Mills K, Clayton P, Johnson A, Whitehouse D and Winchester B (2001). Congenital disorders of glycosylation (CDG) type I leads to altered processing of N-linked glycans as well as underglycosylation. Biochem J. 359:249-54

Mills K, Mills PB, Johnson AW, Clayton PT, Whitehouse DB, Winchester DB (2001). Identification of a1-antitrypsin variants in plasma using proteomic technology. Clin Chem47:2012-2022

Mills P, Mills K, Johnson A, Clayton P and Winchester B (2001). Analysis by matrix assisted laser desorption / ionisation time-of-flight mass spectrometry of the post-translational modifications of a1-antitrypsin isoforms separated by 2D-PAGE. Proteomics 1:778-786

Mills K, Mills PB, Clayton PT, Johnson AW, Whitehouse DB, Winchester BG. (2001) Identification of α1-antitrypsin variants in plasma with the use of proteomic technology. Clin Chem. 47:2012-2022.

Mills P, Mills K, Clayton PT, Johnson A, Whitehouse D, Winchester B. (2001) Congenital disorders of glycosylation type 1 leads to altered processing of N-linked glycans, as well as underglycosylation. Biochem J. 359:249-254.

Mills PB, Mills K, Johnson AW, Clayton PT, Winchester BG. (2001) Analysis by matrix assisted laser desorption/ionisation-time of flight mass spectrometry of the post-translation modifications of α1-antitripsin isoforms separated by two-dimensional polyacrylamide gel electrophoresis. Proteomics. 1:778-786.

Pope SAS, Burtin GE, Clayton PT, Madge DJ, Muller DPR (2001). New synthesis of  (±)-a-CMBHC and its confirmation as a metabolite of a-tocopherol (vitamin E). Bioorganic & Medicinal Chemistry , 9, 1337-1343

Witsch-Baumgartner M, Ciara E, Löffler J, Menzel HJ, Seedorf U, Burn J, Gillessen-Kaesbach G, Hoffmann GF, Fitzky B, Mundy H, Clayton P, Kelley RI, Krajewska-Walasek M, & Utermann G (2001). Frequency gradients of   DHCR7    mutations   in    patients   with Smith-Lemli-Opitz syndrome in Europe: Evidence for different origins of common mutations. Eur J Hum Genet. 9:45-50.


Clayton P T & Lemonde H A. (2002). Disorders of bile acid synthesis. In Blau N, Duran M, Blascovics M (Eds) A physician's guide to the laboratory diagnosis of inherited metabolic disease. 2nd Edition. Springer. Berlin. 615-630.

Clayton PT, Verrips A, Sistermans E, Mann A, Mieli-Vergani G, Wevers R. (2002). Mutations in the cholesterol 27-hydoxylase gene (CYP 27) cause hepatitis of infancy as well as cerebrotendinous xanthomatosis. J Inher Metab Dis. 25:501-513.

Greene, N.D.E., Leung, K-Y, Wait, R., Begum, S., Dunn, M.J., Copp, A.J.  Differential protein expression at the stage of neural tube closure in the mouse embryo. J Biol Chem. 277: 41645-41651, (2002).

Imber CJ, St Peter SD, de Cenarruzabeitia IL, Lemonde H, Rees M, Butler A, Clayton PT, Friend PJ (2002). Optimisation of bile production during normothermic preservation of porcine livers. Am J Transplant. 2:593-9.

Mills K, Johnson A, Winchester B. (2002) Synthesis of novel internal standards for the quantitative determination of plasma ceramide trihexoside in Fabry disease by tandem mass spectrometry. FEBS Letter 515:171-176

Pope SAS, Burtin GE, Clayton PT, Madge DJ and Muller DPR. (2002). Synthesis of α-CEHC conjugates and their analysis in human urine. Free Rad Biol Med. 33:807-817.

Pope SAS, Burtin GE, Clayton PT, Madge DJ, Muller DPR (2002). Synthesis and analysis of conjugates of the major vitamin E metabolite, a-CEHC. Free Rad Biol Med. , 33, 807-817

Pope SAS, Green H, Clayton PT, Goss-Sampson MA, Muller DPR. (2002) The possible use of urinary a-tocopheronolactone as a biomarker of oxidative stress. Free Rad Res. , 36, Suppl 1, 82-83


Clayton PT, Surtees RAH, DeVile C, Hyland K, Heales SJR. (2003). Neonatal epileptic encephalopathy. Lancet 361:1614.

Eaton S, Chatziandreou I, Krywawych S, Pen S, Clayton PT, Hussain K (2003). Short-chain 3-hydroxyacyl-CoA dehydrogenase deficiency associated with hyperinsulinism: a novel glucose-fatty acid cycle? Biochem Soc Trans.;31:1137-9.

Lemonde HA, Custard EJ, Bouquet J, Duran R M, Overmars H, Scambler PJ, Clayton PT. (2003). Mutations in SRD5B1 (AKR1D1), the gene encoding Δ4-3-oxosteroid 5β-reductase, in hepatitis and liver failure in infancy.  Gut 52:1494-1499.

Mills K, Mills PB, Clayton PT, Mian N, Johnson AW, Winchester BG. (2003). The underglycosylation of plasma α1-antitrypsin in congenital disorders of glycosylation type I (CDG-I) is not random. Glycobiology 13:73-85.

Mills PB, Mills K, Mian N, Winchester BG, Clayton PT. (2003). Mass spectrometric analysis of glycans in elucidating the pathogenesis of CDG Type IIx. J Inher Metab Dis. 26:119-134

Offiah AC, Mansour S, Jeffrey I, Nash R, Whittock N, Pyper R, Bewley S, Clayton PT, Hall CM. (2003). Greenberg dysplasia (HEM) and X-linked dominant Conradi-Hünermann Chondrodysplasia Punctata (CDPX2): Presentation of two cases with overlapping phenotype. J Med Genet 40:E129

Whittock NV, Izatt L, Mann A, Homfray T, Bennett C, Mansour S, Hurst J, Fryer A, Saggar A, Ellard S, Clayton PT (2003). Novel mutations in X-linked dominant chondrodysplasia punctata (CDPX2). J Invest Dermatol. 121:939-942

Wolf NI, Rahman S, Clayton PT, Zschocke J (2003). Mitochondrial HMG-CoA synthase deficiency: Identification of two further patients carrying novel mutations. Eur J Pediatr. 162:279-280.


Gruber M , Witsch-Baumgartner M, Kraft HG, Andria G, Clayton P, Giros M, Haas D, Kelley RI, Krajewska-Walasek M, Utermann G. (2004). Maternal apo E genotype  is a modifier of the Smith-Lemli-Opitz Syndrome. J Med Genet. 41:577-584.

Kinali M, Olpin SE, Clayton PT, Daubeney PE, Mercuri E, Manzur AY, Tein I, Leonard J, Muntoni F (2004). Diagnostic difficulties in a case of primary systemic carnitine deficiency with idiopathic dilated cardiomyopathy. Eur J Paediatr Neurol. 8(4):217-9.

Mills K, Vellodi A, Morris P, Cooper D, Morris M, Young E, Winchester B (2004) Monitoring the clinical and biochemical response to enzyme replacement therapy in three children with Fabry disease.Eur J Pediatr 163: 595-603

Pons R, Ford B, Chiriboga CA, Clayton PT, Hinton V, Hyland K, Sharma R, De Vivo DC. (2004). Aromatic L-amino acid decarboxylase deficiency: clinical presentation, progression and management. Neurology 62:1058-65.

Schollen E, Frank CG, Keldermans L, Reyntjens R, Grubenmann CE, Clayton PT, Winchester BJ, Smeitink J, Wevers RA, Aebi M, Hennet T,  Matthijs G (2004). Clinical and molecular features of three patients with congenital disorders of glycosylation type Ih (CDG-Ih), (hALG8 deficiency). J Med Genet. 41:550-556.


Burren K,  Mills K, Copp A, Greene N. Quantitative analysis of s-adenosylmethionine and s-adenosylhomocysteine by liquid chromatography tandem mass spectrometry in mouse embryos. About to be submitted.

Clayton P T. 2005. Disorders of bile acid synthesis.  In  Fernandes J, Saudubray J-M, Van den Berghe G (Eds). Inherited Metabolic Diseases. Diagnosis and Treatment. 4th Edition. Springer-Verlag, Berlin In press.

Clayton P T. 2005. Disorders of bile acid synthesis. In Blau N, et al. (Eds) A physician's guide to the treatment of inherited metabolic disease. Springer. Berlin.  In press.

Hussain K, Clayton PT, Krywawych S, Chatziandreou I, Mills P, Ginbey DW, Geboers A, Berger R,  van den Berg IET, and Eaton S (2005). Hyperinsulinism of infancy associated with a novel splice site mutation in the SCHAD gene: further evidence linking defects in mitochondrial b-oxidation with unregulated insulin secretion. J Pediatr.146:706-8.

Jaeken J, Jakobs JC, Wevers, RA, Clayton PT . Disorders of neurotransmission. .  In  Fernandes J, Saudubray J-M, Van den Berghe G (Eds). Inherited Metabolic Diseases. Diagnosis and Treatment. 4th Edition. Springer-Verlag, Berlin In press.

Mills K, Morris P, Lee P, Vellodi A, Waldek S. Young E, Winchester B (2005) Measurement of urinary CDH and CTH by tandem mass spectrometry in patients hemizygous and heterozygous for Fabry disease J Inherit Metab Dis 28: 35-48

Mills PB, Surtees RAH, Champion MP, Beesley CE, Dalton N, Scambler PJ, Heales SJR, Briddon A, Scheimberg I, Hoffmann GF, Zschocke J, Clayton PT (2005). Neonatal epileptic encephalopathy caused by mutations in the PNPO gene encoding pyridox(am)ine  5'-phosphate oxidase. Hum Mol Genet 14:1077-86

Pedro S, Mota MC, Dionisi-Vici C, Santorelli F, Jakobs C, Clayton P, Vilarhino L (2005). Molecular studies in Portuguese patients with Smith-Lemli-Opitz syndrome and report of three new mutations in DHCR7. Mol Gen Metab. In press.

Rees DC, Iolascon A, Carella M, O’Marcaigh AS, Kendra JR, Jowitt SN, Wales JK, Vora A, Makris N, Manning N, Nicolaou A, Fisher J, Mann A, Machin SJ, Clayton PT, Gasparini P, Stewart GW (2005). Mediterranean  stomatocytosis / macrothrombocytopenia and phytosterolemia. Brit J Haem In press.

Waterham HR, Clayton PT. Disorders of cholesterol synthesis. . In  Fernandes J, Saudubray J-M, Van den Berghe G (Eds). Inherited Metabolic Diseases. Diagnosis and Treatment. 4th Edition. Springer-Verlag, Berlin In press.

Witsch-Baumgartner M, Clayton P, Clusellas N, Haas D, Kelley RI, Krajewska-Walasek M, Lechner S, Rossi M, Zschocke J, Utermann G (2005). Identification of 14 novel mutations in the DHCR7 gene causing the Smith-Lemli-Opitz Syndrome and mutational spectra in Spain and Italy. Hum Mutat. 25:412.

Young E, Mills K, Morris P, Vellodi A, Lee P, Waldek S, Winchester B (2005) Acta Paediatrica 94 (supp 447):51-54