Heales S - Search Results

1

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. Among authors: heales s. 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

2

Coenzyme Q₁₀ and Pyridoxal Phosphate Deficiency Is a Common Feature in Mucopolysaccharidosis Type III.

Yubero D, Montero R, O'Callaghan M, Pineda M, Meavilla S, Delgadillo V, Sierra C, Altimira L, Navas P, Pope S, Oppenheim M, Neergheen V, Ghosh A, Mills P, Clayton P, Footitt E, Cleary M, Hargreaves I, Jones SA, Heales S, Artuch R. Yubero D, et al. Among authors: heales s. JIMD Rep. 2016;25:1-7. doi: 10.1007/8904_2015_421. Epub 2015 Jul 24. JIMD Rep. 2016. PMID: 26205433 Free PMC article.

3

Cerebral folate deficiency: Analytical tests and differential diagnosis.

Pope S, Artuch R, Heales S, Rahman S. Pope S, et al. Among authors: heales s. 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.

4

Cerebral folate deficiency.

Hyland K, Shoffner J, Heales SJ. Hyland K, et al. 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.

5

Can folic acid have a role in mitochondrial disorders?

Ormazabal A, Casado M, Molero-Luis M, Montoya J, Rahman S, Aylett SB, Hargreaves I, Heales S, Artuch R. Ormazabal A, et al. Among authors: heales s. Drug Discov Today. 2015 Nov;20(11):1349-54. doi: 10.1016/j.drudis.2015.07.002. Epub 2015 Jul 14. Drug Discov Today. 2015. PMID: 26183769 Review.

6

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.

7

Consensus guideline for the diagnosis and treatment of aromatic l-amino acid decarboxylase (AADC) deficiency.

Wassenberg T, Molero-Luis M, Jeltsch K, Hoffmann GF, Assmann B, Blau N, Garcia-Cazorla A, Artuch R, Pons R, Pearson TS, Leuzzi V, Mastrangelo M, Pearl PL, Lee WT, Kurian MA, Heales S, Flint L, Verbeek M, Willemsen M, Opladen T. Wassenberg T, et al. Among authors: heales s. Orphanet J Rare Dis. 2017 Jan 18;12(1):12. doi: 10.1186/s13023-016-0522-z. Orphanet J Rare Dis. 2017. PMID: 28100251 Free PMC article. Review.

8

Neonatal presentation of coenzyme Q10 deficiency.

Rahman S, Hargreaves I, Clayton P, Heales S. Rahman S, et al. Among authors: heales s. J Pediatr. 2001 Sep;139(3):456-8. doi: 10.1067/mpd.2001.117575. J Pediatr. 2001. PMID: 11562630

9

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.

10

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

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