Heales SJ - Search Results

1

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. Among authors: heales sj. 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

2

Blood mononuclear cell coenzyme Q10 concentration and mitochondrial respiratory chain succinate cytochrome-c reductase activity in phenylketonuric patients.

Hargreaves IP, Heales SJ, Briddon A, Land JM, Lee PJ. Hargreaves IP, et al. Among authors: heales sj. J Inherit Metab Dis. 2002 Dec;25(8):673-9. doi: 10.1023/a:1022881231253. J Inherit Metab Dis. 2002. PMID: 12705497 Clinical Trial.

3

Neonatal epileptic encephalopathy.

Clayton PT, Surtees RA, DeVile C, Hyland K, Heales SJ. Clayton PT, et al. Among authors: heales sj. Lancet. 2003 May 10;361(9369):1614. doi: 10.1016/s0140-6736(03)13312-0. Lancet. 2003. PMID: 12747882 No abstract available.

4

Primary pyruvate dehydrogenase E3 binding protein deficiency with mild hyperlactataemia and hyperalaninaemia.

Hargreaves IP, Heales SJ, Briddon A, Lee PJ, Hanna MG, Land JM. Hargreaves IP, et al. Among authors: heales sj. J Inherit Metab Dis. 2003;26(5):505-6. doi: 10.1023/a:1025181512847. J Inherit Metab Dis. 2003. PMID: 14518830

5

Infantile Parkinsonism-dystonia and elevated dopamine metabolites in CSF.

Assmann BE, Robinson RO, Surtees RA, Bräutigam C, Heales SJ, Wevers RA, Zschocke J, Hyland K, Sharma R, Hoffmann GF. Assmann BE, et al. Among authors: heales sj. Neurology. 2004 May 25;62(10):1872-4. doi: 10.1212/01.wnl.0000126440.16612.51. Neurology. 2004. PMID: 15159499

6

Phenotypic variability of mitochondrial disease caused by a nuclear mutation in complex II.

Pagnamenta AT, Hargreaves IP, Duncan AJ, Taanman JW, Heales SJ, Land JM, Bitner-Glindzicz M, Leonard JV, Rahman S. Pagnamenta AT, et al. Among authors: heales sj. Mol Genet Metab. 2006 Nov;89(3):214-21. doi: 10.1016/j.ymgme.2006.05.003. Epub 2006 Jun 23. Mol Genet Metab. 2006. PMID: 16798039

7

Mutations in the gene encoding 3-hydroxyisobutyryl-CoA hydrolase results in progressive infantile neurodegeneration.

Loupatty FJ, Clayton PT, Ruiter JP, Ofman R, Ijlst L, Brown GK, Thorburn DR, Harris RA, Duran M, Desousa C, Krywawych S, Heales SJ, Wanders RJ. Loupatty FJ, et al. Among authors: heales sj. Am J Hum Genet. 2007 Jan;80(1):195-9. doi: 10.1086/510725. Epub 2006 Nov 30. Am J Hum Genet. 2007. PMID: 17160907 Free PMC article.

8

A new perspective on the treatment of aromatic L-amino acid decarboxylase deficiency.

Allen GF, Land JM, Heales SJ. Allen GF, et al. Among authors: heales sj. Mol Genet Metab. 2009 May;97(1):6-14. doi: 10.1016/j.ymgme.2009.01.010. Epub 2009 Jan 27. Mol Genet Metab. 2009. PMID: 19231266 Review.

9

Pyridoxal 5'-phosphate deficiency causes a loss of aromatic L-amino acid decarboxylase in patients and human neuroblastoma cells, implications for aromatic L-amino acid decarboxylase and vitamin B(6) deficiency states.

Allen GF, Neergheen V, Oppenheim M, Fitzgerald JC, Footitt E, Hyland K, Clayton PT, Land JM, Heales SJ. Allen GF, et al. Among authors: heales sj. J Neurochem. 2010 Jul;114(1):87-96. doi: 10.1111/j.1471-4159.2010.06742.x. Epub 2010 Apr 9. J Neurochem. 2010. PMID: 20403077 Free article.

10

Pyridoxal 5'-phosphate in cerebrospinal fluid; factors affecting concentration.

Footitt EJ, Heales SJ, Mills PB, Allen GF, Oppenheim M, Clayton PT. Footitt EJ, et al. Among authors: heales sj. J Inherit Metab Dis. 2011 Apr;34(2):529-38. doi: 10.1007/s10545-011-9279-7. Epub 2011 Feb 9. J Inherit Metab Dis. 2011. PMID: 21305354

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

193 results

Search Page