Mills PB - Search Results

1

Mutations in PROSC Disrupt Cellular Pyridoxal Phosphate Homeostasis and Cause Vitamin-B₆-Dependent Epilepsy.

Darin N, Reid E, Prunetti L, Samuelsson L, Husain RA, Wilson M, El Yacoubi B, Footitt E, Chong WK, Wilson LC, Prunty H, Pope S, Heales S, Lascelles K, Champion M, Wassmer E, Veggiotti P, de Crécy-Lagard V, Mills PB, Clayton PT. Darin N, et al. Among authors: mills pb. Am J Hum Genet. 2016 Dec 1;99(6):1325-1337. doi: 10.1016/j.ajhg.2016.10.011. Am J Hum Genet. 2016. PMID: 27912044 Free PMC article.

2

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.

3

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. Among authors: mills pb. Clin Chem. 2001 Nov;47(11):2012-22. Clin Chem. 2001. PMID: 11673370

4

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. Among authors: mills k. 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

5

The underglycosylation of plasma alpha 1-antitrypsin in congenital disorders of glycosylation type I is not random.

Mills K, Mills PB, Clayton PT, Mian N, Johnson AW, Winchester BG. Mills K, et al. Among authors: mills pb. Glycobiology. 2003 Feb;13(2):73-85. doi: 10.1093/glycob/cwg026. Epub 2002 Dec 17. Glycobiology. 2003. PMID: 12626422

6

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.

7

Neonatal epileptic encephalopathy caused by mutations in the PNPO gene encoding pyridox(am)ine 5'-phosphate oxidase.

Mills PB, Surtees RA, Champion MP, Beesley CE, Dalton N, Scambler PJ, Heales SJ, Briddon A, Scheimberg I, Hoffmann GF, Zschocke J, Clayton PT. Mills PB, et al. Hum Mol Genet. 2005 Apr 15;14(8):1077-86. doi: 10.1093/hmg/ddi120. Epub 2005 Mar 16. Hum Mol Genet. 2005. PMID: 15772097

8

Elevation of plasma aspartylglucosaminidase is a useful marker for the congenital disorders of glycosylation type I (CDG I).

Jackson M, Clayton P, Grunewald S, Keir G, Mills K, Mills P, Winchester B, Worthington V, Young E. Jackson M, et al. J Inherit Metab Dis. 2005;28(6):1197-8. doi: 10.1007/s10545-005-0157-z. J Inherit Metab Dis. 2005. PMID: 16435229

9

Mutations in antiquitin in individuals with pyridoxine-dependent seizures.

Mills PB, Struys E, Jakobs C, Plecko B, Baxter P, Baumgartner M, Willemsen MA, Omran H, Tacke U, Uhlenberg B, Weschke B, Clayton PT. Mills PB, et al. Nat Med. 2006 Mar;12(3):307-9. doi: 10.1038/nm1366. Epub 2006 Feb 19. Nat Med. 2006. PMID: 16491085

10

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. Hoffmann GF, et al. Among authors: mills pb. J Inherit Metab Dis. 2007 Feb;30(1):96-9. doi: 10.1007/s10545-006-0508-4. Epub 2006 Dec 23. J Inherit Metab Dis. 2007. PMID: 17216302

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

104 results

Search Page