Mills PB - Search Results

1

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

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

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.

6

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

7

A combined defect in the biosynthesis of N- and O-glycans in patients with cutis laxa and neurological involvement: the biochemical characteristics.

Wopereis S, Morava E, Grünewald S, Mills PB, Winchester BG, Clayton P, Coucke P, Huijben KM, Wevers RA. Wopereis S, et al. Among authors: mills pb. Biochim Biophys Acta. 2005 Jun 30;1741(1-2):156-64. doi: 10.1016/j.bbadis.2004.11.009. Epub 2004 Dec 9. Biochim Biophys Acta. 2005. PMID: 15955459 Free article.

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

Conserved oligomeric Golgi complex subunit 1 deficiency reveals a previously uncharacterized congenital disorder of glycosylation type II.

Foulquier F, Vasile E, Schollen E, Callewaert N, Raemaekers T, Quelhas D, Jaeken J, Mills P, Winchester B, Krieger M, Annaert W, Matthijs G. Foulquier F, et al. Proc Natl Acad Sci U S A. 2006 Mar 7;103(10):3764-9. doi: 10.1073/pnas.0507685103. Epub 2006 Feb 28. Proc Natl Acad Sci U S A. 2006. PMID: 16537452 Free PMC article.

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 Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

107 results

Search Page

Filters