Hyland K - Search Results

1

6-pyruvoyl-tetrahydropterin synthase deficiency with mild hyperphenylalaninemia.

Demos MK, Waters PJ, Vallance HD, Lillquist Y, Makhseed N, Hyland K, Blau N, Connolly MB. Demos MK, et al. Among authors: hyland k. Ann Neurol. 2005 Jul;58(1):164-7. doi: 10.1002/ana.20532. Ann Neurol. 2005. PMID: 15984017

2

Autosomal recessive GTP cyclohydrolase I deficiency without hyperphenylalaninemia: evidence of a phenotypic continuum between dominant and recessive forms.

Horvath GA, Stockler-Ipsiroglu SG, Salvarinova-Zivkovic R, Lillquist YP, Connolly M, Hyland K, Blau N, Rupar T, Waters PJ. Horvath GA, et al. Among authors: hyland k. Mol Genet Metab. 2008 May;94(1):127-31. doi: 10.1016/j.ymgme.2008.01.003. Epub 2008 Feb 13. Mol Genet Metab. 2008. PMID: 18276179

3

Sepiapterin reductase deficiency: a treatable mimic of cerebral palsy.

Friedman J, Roze E, Abdenur JE, Chang R, Gasperini S, Saletti V, Wali GM, Eiroa H, Neville B, Felice A, Parascandalo R, Zafeiriou DI, Arrabal-Fernandez L, Dill P, Eichler FS, Echenne B, Gutierrez-Solana LG, Hoffmann GF, Hyland K, Kusmierska K, Tijssen MA, Lutz T, Mazzuca M, Penzien J, Poll-The BT, Sykut-Cegielska J, Szymanska K, Thöny B, Blau N. Friedman J, et al. Among authors: hyland k. Ann Neurol. 2012 Apr;71(4):520-30. doi: 10.1002/ana.22685. Ann Neurol. 2012. PMID: 22522443

4

Dopa-responsive hypersomnia and mixed movement disorder due to sepiapterin reductase deficiency.

Friedman J, Hyland K, Blau N, MacCollin M. Friedman J, et al. Among authors: hyland k. Neurology. 2006 Dec 12;67(11):2032-5. doi: 10.1212/01.wnl.0000247274.21261.b4. Neurology. 2006. PMID: 17159114

5

Folinic acid-responsive seizures are identical to pyridoxine-dependent epilepsy.

Gallagher RC, Van Hove JL, Scharer G, Hyland K, Plecko B, Waters PJ, Mercimek-Mahmutoglu S, Stockler-Ipsiroglu S, Salomons GS, Rosenberg EH, Struys EA, Jakobs C. Gallagher RC, et al. Among authors: hyland k. Ann Neurol. 2009 May;65(5):550-6. doi: 10.1002/ana.21568. Ann Neurol. 2009. PMID: 19142996

6

Cerebral folate deficiency with developmental delay, autism, and response to folinic acid.

Moretti P, Sahoo T, Hyland K, Bottiglieri T, Peters S, del Gaudio D, Roa B, Curry S, Zhu H, Finnell RH, Neul JL, Ramaekers VT, Blau N, Bacino CA, Miller G, Scaglia F. Moretti P, et al. Among authors: hyland k. Neurology. 2005 Mar 22;64(6):1088-90. doi: 10.1212/01.WNL.0000154641.08211.B7. Neurology. 2005. PMID: 15781839

7

Hemiplegic migraine, seizures, progressive spastic paraparesis, mood disorder, and coma in siblings with low systemic serotonin.

Horvath GA, Selby K, Poskitt K, Hyland K, Waters PJ, Coulter-Mackie M, Stockler-Ipsiroglu SG. Horvath GA, et al. Among authors: hyland k. Cephalalgia. 2011 Nov;31(15):1580-6. doi: 10.1177/0333102411420584. Epub 2011 Oct 19. Cephalalgia. 2011. PMID: 22013141

8

Dihydropteridine reductase deficiency localized to the central nervous system.

Blau N, Thöny B, Renneberg A, Arnold LA, Hyland K. Blau N, et al. Among authors: hyland k. J Inherit Metab Dis. 1998 Jun;21(4):433-4. doi: 10.1023/a:1005327313348. J Inherit Metab Dis. 1998. PMID: 9700606 No abstract available.

9

Phase I clinical evaluation of CNSA-001 (sepiapterin), a novel pharmacological treatment for phenylketonuria and tetrahydrobiopterin deficiencies, in healthy volunteers.

Smith N, Longo N, Levert K, Hyland K, Blau N. Smith N, et al. Among authors: hyland k. Mol Genet Metab. 2019 Apr;126(4):406-412. doi: 10.1016/j.ymgme.2019.02.001. Epub 2019 Feb 10. Mol Genet Metab. 2019. PMID: 30922814 Clinical Trial.

10

Variant of dihydropteridine reductase deficiency without hyperphenylalaninaemia: effect of oral phenylalanine loading.

Blau N, Thöny B, Renneberg A, Penzien JM, Hyland K, Hoffmann GF. Blau N, et al. Among authors: hyland k. J Inherit Metab Dis. 1999 May;22(3):216-20. doi: 10.1023/a:1005584627797. J Inherit Metab Dis. 1999. PMID: 10384371 No abstract available.

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