Heales SJ - Search Results

1

Hyland K, Shoffner J, Heales SJ. Hyland K, et al. Among authors: heales sj. J Inherit Metab Dis. 2010 Oct;33(5):563-70. doi: 10.1007/s10545-010-9159-6. Epub 2010 Jul 29. J Inherit Metab Dis. 2010. PMID: 20668945 Review.

2

Tetrahydrobiopterin and quinonoid dihydrobiopterin concentrations in CSF from patients with dihydropteridine reductase deficiency.

Hyland K, Heales SJ. Hyland K, et al. Among authors: heales sj. J Inherit Metab Dis. 1993;16(3):608-10. doi: 10.1007/BF00711695. J Inherit Metab Dis. 1993. PMID: 7609464 Clinical Trial. No abstract available.

3

Cerebrospinal fluid nitrite plus nitrate correlates with tetrahydrobiopterin concentration.

Heales SJ, Canevari L, Brand MP, Clark JB, Land JM, Hyland K. Heales SJ, et al. J Inherit Metab Dis. 1999 May;22(3):221-3. doi: 10.1023/a:1005540828706. J Inherit Metab Dis. 1999. PMID: 10384372 No abstract available.

4

Clinical and molecular characterisation of hereditary dopamine transporter deficiency syndrome: an observational cohort and experimental study.

Kurian MA, Li Y, Zhen J, Meyer E, Hai N, Christen HJ, Hoffmann GF, Jardine P, von Moers A, Mordekar SR, O'Callaghan F, Wassmer E, Wraige E, Dietrich C, Lewis T, Hyland K, Heales S Jr, Sanger T, Gissen P, Assmann BE, Reith ME, Maher ER. Kurian MA, et al. Lancet Neurol. 2011 Jan;10(1):54-62. doi: 10.1016/S1474-4422(10)70269-6. Epub 2010 Nov 25. Lancet Neurol. 2011. PMID: 21112253 Free PMC article.

5

Cerebral folate deficiency: Analytical tests and differential diagnosis.

Pope S, Artuch R, Heales S, Rahman S. Pope S, et al. J Inherit Metab Dis. 2019 Jul;42(4):655-672. doi: 10.1002/jimd.12092. Epub 2019 May 2. J Inherit Metab Dis. 2019. PMID: 30916789 Review.

6

Pyridoxal 5'-phosphate values in cerebrospinal fluid: reference values and diagnosis of PNPO deficiency in paediatric patients.

Ormazabal A, Oppenheim M, Serrano M, García-Cazorla A, Campistol J, Ribes A, Ruiz A, Moreno J, Hyland K, Clayton P, Heales S, Artuch R. Ormazabal A, et al. Mol Genet Metab. 2008 Jun;94(2):173-7. doi: 10.1016/j.ymgme.2008.01.004. Epub 2008 Feb 21. Mol Genet Metab. 2008. PMID: 18294893

7

Determination of quinonoid dihydrobiopterin by high-performance liquid chromatography and electrochemical detection.

Heales S, Hyland K. Heales S, et al. J Chromatogr. 1989 Sep 29;494:77-85. doi: 10.1016/s0378-4347(00)82658-4. J Chromatogr. 1989. PMID: 2584347

8

Cerebrospinal fluid concentrations of pterins and metabolites of serotonin and dopamine in a pediatric reference population.

Hyland K, Surtees RA, Heales SJ, Bowron A, Howells DW, Smith I. Hyland K, et al. Among authors: heales sj. Pediatr Res. 1993 Jul;34(1):10-4. doi: 10.1203/00006450-199307000-00003. Pediatr Res. 1993. PMID: 7689195

9

Neurochemical effects following peripheral administration of tetrahydropterin derivatives to the hph-1 mouse.

Brand MP, Hyland K, Engle T, Smith I, Heales SJ. Brand MP, et al. Among authors: heales sj. J Neurochem. 1996 Mar;66(3):1150-6. doi: 10.1046/j.1471-4159.1996.66031150.x. J Neurochem. 1996. PMID: 8769878

10

The diagnosis of carnitine palmitoyltransferase II deficiency is now possible in small skeletal muscle biopsies.

Hargreaves IP, Heales SJ, Olpin SE, Morgan-Ughes JA, Land JM. Hargreaves IP, et al. Among authors: heales sj. J Inherit Metab Dis. 2000 Jun;23(4):352-4. doi: 10.1023/a:1005627113617. J Inherit Metab Dis. 2000. PMID: 10896292 No abstract available.

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