Mills KA - Search Results

1

Epilepsy due to PNPO mutations: genotype, environment and treatment affect presentation and outcome.

Mills PB, Camuzeaux SS, Footitt EJ, Mills KA, Gissen P, Fisher L, Das KB, Varadkar SM, Zuberi S, McWilliam R, Stödberg T, Plecko B, Baumgartner MR, Maier O, Calvert S, Riney K, Wolf NI, Livingston JH, Bala P, Morel CF, Feillet F, Raimondi F, Del Giudice E, Chong WK, Pitt M, Clayton PT. Mills PB, et al. Among authors: mills ka. Brain. 2014 May;137(Pt 5):1350-60. doi: 10.1093/brain/awu051. Epub 2014 Mar 18. Brain. 2014. PMID: 24645144 Free PMC article.

2

Prenatal diagnosis of Smith-Lemli-Opitz syndrome.

McGaughran JM, Clayton PT, Mills KA, Rimmer S, Moore L, Donnai D. McGaughran JM, et al. Among authors: mills ka. Am J Med Genet. 1995 Apr 10;56(3):269-71. doi: 10.1002/ajmg.1320560306. Am J Med Genet. 1995. PMID: 7778587

3

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

4

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.

5

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

6

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.

7

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

8

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

9

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.

10

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

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