Coulter-Mackie M - Search Results

1

Pyridoxine dependent epilepsy and antiquitin deficiency: clinical and molecular characteristics and recommendations for diagnosis, treatment and follow-up.

Stockler S, Plecko B, Gospe SM Jr, Coulter-Mackie M, Connolly M, van Karnebeek C, Mercimek-Mahmutoglu S, Hartmann H, Scharer G, Struijs E, Tein I, Jakobs C, Clayton P, Van Hove JL. Stockler S, et al. Among authors: coulter mackie m. Mol Genet Metab. 2011 Sep-Oct;104(1-2):48-60. doi: 10.1016/j.ymgme.2011.05.014. Epub 2011 May 24. Mol Genet Metab. 2011. PMID: 21704546 Review.

2

Profound neonatal hypoglycemia and lactic acidosis caused by pyridoxine-dependent epilepsy.

Mercimek-Mahmutoglu S, Horvath GA, Coulter-Mackie M, Nelson T, Waters PJ, Sargent M, Struys E, Jakobs C, Stockler-Ipsiroglu S, Connolly MB. Mercimek-Mahmutoglu S, et al. Among authors: coulter mackie m. Pediatrics. 2012 May;129(5):e1368-72. doi: 10.1542/peds.2011-0123. Epub 2012 Apr 23. Pediatrics. 2012. PMID: 22529283

3

Overexpression of human antiquitin in E. coli: enzymatic characterization of twelve ALDH7A1 missense mutations associated with pyridoxine-dependent epilepsy.

Coulter-Mackie MB, Li A, Lian Q, Struys E, Stockler S, Waters PJ. Coulter-Mackie MB, et al. Mol Genet Metab. 2012 Aug;106(4):478-81. doi: 10.1016/j.ymgme.2012.06.008. Epub 2012 Jun 22. Mol Genet Metab. 2012. PMID: 22784480

4

Overexpression of recombinant human antiquitin in E. coli: partial enzyme activity in selected ALDH7A1 missense mutations associated with pyridoxine-dependent epilepsy.

Coulter-Mackie MB, Tiebout S, van Karnebeek C, Stockler S. Coulter-Mackie MB, et al. Mol Genet Metab. 2014 Apr;111(4):462-6. doi: 10.1016/j.ymgme.2014.02.010. Epub 2014 Feb 24. Mol Genet Metab. 2014. PMID: 24613284

5

Late-onset nonketotic hyperglycinemia caused by a novel homozygous missense mutation in the GLDC gene.

Brunel-Guitton C, Casey B, Coulter-Mackie M, Vallance H, Hewes D, Stockler-Ipsiroglu S, Mercimek-Mahmutoglu S. Brunel-Guitton C, et al. Among authors: coulter mackie m. Mol Genet Metab. 2011 Jun;103(2):193-6. doi: 10.1016/j.ymgme.2011.02.009. Epub 2011 Feb 22. Mol Genet Metab. 2011. PMID: 21411353

6

Mitochondrial carbonic anhydrase VA deficiency resulting from CA5A alterations presents with hyperammonemia in early childhood.

van Karnebeek CD, Sly WS, Ross CJ, Salvarinova R, Yaplito-Lee J, Santra S, Shyr C, Horvath GA, Eydoux P, Lehman AM, Bernard V, Newlove T, Ukpeh H, Chakrapani A, Preece MA, Ball S, Pitt J, Vallance HD, Coulter-Mackie M, Nguyen H, Zhang LH, Bhavsar AP, Sinclair G, Waheed A, Wasserman WW, Stockler-Ipsiroglu S. van Karnebeek CD, et al. Among authors: coulter mackie m. Am J Hum Genet. 2014 Mar 6;94(3):453-61. doi: 10.1016/j.ajhg.2014.01.006. Epub 2014 Feb 13. Am J Hum Genet. 2014. PMID: 24530203 Free PMC article.

7

Molecular genetic and potential biochemical characteristics of patients with T-protein deficiency as a cause of glycine encephalopathy (NKH).

Toone JR, Applegarth DA, Levy HL, Coulter-Mackie MB, Lee G. Toone JR, et al. Mol Genet Metab. 2003 Aug;79(4):272-80. doi: 10.1016/s1096-7192(03)00115-x. Mol Genet Metab. 2003. PMID: 12948742

8

Genetic heterogeneity in primary hyperoxaluria type 1: impact on diagnosis.

Coulter-Mackie MB, Rumsby G. Coulter-Mackie MB, et al. Mol Genet Metab. 2004 Sep-Oct;83(1-2):38-46. doi: 10.1016/j.ymgme.2004.08.009. Mol Genet Metab. 2004. PMID: 15464418 Review.

9

Recurrent mutations in P- and T-proteins of the glycine cleavage complex and a novel T-protein mutation (N145I): a strategy for the molecular investigation of patients with nonketotic hyperglycinemia (NKH).

Toone JR, Applegarth DA, Coulter-Mackie MB, James ER. Toone JR, et al. Mol Genet Metab. 2001 Apr;72(4):322-5. doi: 10.1006/mgme.2001.3158. Mol Genet Metab. 2001. PMID: 11286506

10

Novel mutations in the P-protein (glycine decarboxylase) gene in patients with glycine encephalopathy (non-ketotic hyperglycinemia).

Toone JR, Applegarth DA, Kure S, Coulter-Mackie MB, Sazegar P, Kojima K, Ichinohe A. Toone JR, et al. Mol Genet Metab. 2002 Jul;76(3):243-9. doi: 10.1016/s1096-7192(02)00041-0. Mol Genet Metab. 2002. PMID: 12126939

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