Mills KA - Search Results

1

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. Mills PB, et al. Among authors: mills ka. Brain. 2010 Jul;133(Pt 7):2148-59. doi: 10.1093/brain/awq143. Epub 2010 Jun 16. Brain. 2010. PMID: 20554659 Free PMC article.

2

Phytosterolemia in children with parenteral nutrition-associated cholestatic liver disease.

Clayton PT, Bowron A, Mills KA, Massoud A, Casteels M, Milla PJ. Clayton PT, et al. Among authors: mills ka. Gastroenterology. 1993 Dec;105(6):1806-13. doi: 10.1016/0016-5085(93)91079-w. Gastroenterology. 1993. PMID: 8253356

3

Delta 4-3-oxosteroid 5 beta-reductase deficiency: failure of ursodeoxycholic acid treatment and response to chenodeoxycholic acid plus cholic acid.

Clayton PT, Mills KA, Johnson AW, Barabino A, Marazzi MG. Clayton PT, et al. Among authors: mills ka. Gut. 1996 Apr;38(4):623-8. doi: 10.1136/gut.38.4.623. Gut. 1996. PMID: 8707100 Free PMC article.

4

First trimester prenatal diagnosis of Smith-Lemli-Opitz syndrome (7-dehydrocholesterol reductase deficiency).

Mills K, Mandel H, Montemagno R, Soothill P, Gershoni-Baruch R, Clayton PT. Mills K, et al. Pediatr Res. 1996 May;39(5):816-9. doi: 10.1203/00006450-199605000-00012. Pediatr Res. 1996. PMID: 8726234

5

The use of automated electrospray ionization tandem MS for the diagnosis of inborn errors of metabolism from dried blood spots.

Johnson AW, Mills K, Clayton PT. Johnson AW, et al. Biochem Soc Trans. 1996 Aug;24(3):932-8. doi: 10.1042/bst0240932. Biochem Soc Trans. 1996. PMID: 8878877 No abstract available.

6

Ataxia associated with increased plasma concentrations of pristanic acid, phytanic acid and C27 bile acids but normal fibroblast branched-chain fatty acid oxidation.

Clayton PT, Johnson AW, Mills KA, Lynes GW, Wilson J, Casteels M, Mannaerts G. Clayton PT, et al. Among authors: mills ka. J Inherit Metab Dis. 1996;19(6):761-8. doi: 10.1007/BF01799170. J Inherit Metab Dis. 1996. PMID: 8982949

7

A method for the quantitation of conjugated bile acids in dried blood spots using electrospray ionization-mass spectrometry.

Mills KA, Mushtaq I, Johnson AW, Whitfield PD, Clayton PT. Mills KA, et al. Pediatr Res. 1998 Mar;43(3):361-8. doi: 10.1203/00006450-199803000-00009. Pediatr Res. 1998. PMID: 9505275

8

Congenital disorders of glycosylation type I leads to altered processing of N-linked glycans, as well as underglycosylation.

Mills P, Mills K, Clayton P, Johnson A, Whitehouse D, Winchester B. Mills P, et al. Biochem J. 2001 Oct 15;359(Pt 2):249-54. doi: 10.1042/0264-6021:3590249. Biochem J. 2001. PMID: 11583570 Free PMC article.

9

Identification of alpha(1)-antitrypsin variants in plasma with the use of proteomic technology.

Mills K, Mills PB, Clayton PT, Johnson AW, Whitehouse DB, Winchester BG. Mills K, et al. Clin Chem. 2001 Nov;47(11):2012-22. Clin Chem. 2001. PMID: 11673370

10

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.

Mills PB, Mills K, Johnson AW, Clayton PT, Winchester BG. Mills PB, et al. Proteomics. 2001 Jun;1(6):778-86. doi: 10.1002/1615-9861(200106)1:6<778::AID-PROT778>3.0.CO;2-H. Proteomics. 2001. PMID: 11677785

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