Mills K - Search Results

1

Mass spectrometric analysis of glycans in elucidating the pathogenesis of CDG type IIx.

Mills PB, Mills K, Mian N, Winchester BG, Clayton PT. Mills PB, et al. Among authors: mills k. J Inherit Metab Dis. 2003;26(2-3):119-34. doi: 10.1023/a:1024476915278. J Inherit Metab Dis. 2003. PMID: 12889655 Review.

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

Diagnosis of Smith-Lemli-Opitz syndrome.

McGaughran J, Donnai D, Clayton P, Mills K. McGaughran J, et al. Among authors: mills k. N Engl J Med. 1994 Jun 9;330(23):1685-6; author reply 1687. N Engl J Med. 1994. PMID: 8177281 No abstract available.

4

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

5

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.

6

Desmosterolosis: a new inborn error of cholesterol biosynthesis.

Clayton P, Mills K, Keeling J, FitzPatrick D. Clayton P, et al. Among authors: mills k. Lancet. 1996 Aug 10;348(9024):404. doi: 10.1016/s0140-6736(05)65020-9. Lancet. 1996. PMID: 8709748 No abstract available.

7

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

8

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. Among authors: mills k. Biochem Soc Trans. 1996 Aug;24(3):932-8. doi: 10.1042/bst0240932. Biochem Soc Trans. 1996. PMID: 8878877 No abstract available.

9

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

10

Clinical phenotype of desmosterolosis.

FitzPatrick DR, Keeling JW, Evans MJ, Kan AE, Bell JE, Porteous ME, Mills K, Winter RM, Clayton PT. FitzPatrick DR, et al. Among authors: mills k. Am J Med Genet. 1998 Jan 13;75(2):145-52. Am J Med Genet. 1998. PMID: 9450875

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