Hyland K - 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: hyland k. 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

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: hyland k. 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.

3

Aromatic L-amino acid decarboxylase deficiency: diagnostic methodology.

Hyland K, Clayton PT. Hyland K, et al. Clin Chem. 1992 Dec;38(12):2405-10. Clin Chem. 1992. PMID: 1281049

4

Novel Protein Biomarkers of Monoamine Metabolism Defects Correlate with Disease Severity.

Tristán-Noguero A, Borràs E, Molero-Luis M, Wassenberg T, Peters T, Verbeek MM, Willemsen M, Opladen T, Jeltsch K, Pons R, Thony B, Horvath G, Yapici Z, Friedman J, Hyland K, Agosta GE, López-Laso E, Artuch R, Sabidó E, García-Cazorla À. Tristán-Noguero A, et al. Among authors: hyland k. Mov Disord. 2021 Mar;36(3):690-703. doi: 10.1002/mds.28362. Epub 2020 Nov 5. Mov Disord. 2021. PMID: 33152132

5

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.

6

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

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

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. Among authors: hyland k. 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.

8

Aromatic amino acid decarboxylase deficiency in twins.

Hyland K, Clayton PT. Hyland K, et al. J Inherit Metab Dis. 1990;13(3):301-4. doi: 10.1007/BF01799380. J Inherit Metab Dis. 1990. PMID: 1700191 No abstract available.

9

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. Pediatr Res. 1993 Jul;34(1):10-4. doi: 10.1203/00006450-199307000-00003. Pediatr Res. 1993. PMID: 7689195

10

Tetrahydrobiopterin availability, nitric oxide metabolism and glutathione status in the hph-1 mouse; implications for the pathogenesis and treatment of tetrahydrobiopterin deficiency states.

Lam AA, Hyland K, Heales SJ. Lam AA, et al. Among authors: hyland k. J Inherit Metab Dis. 2007 Apr;30(2):256-62. doi: 10.1007/s10545-006-0502-x. Epub 2007 Jan 22. J Inherit Metab Dis. 2007. PMID: 17242981

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