Lillquist Y - 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: lillquist y. 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. 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

Neonatal hyperphenylalaninemia, perinatal hemochromatosis, and renal tubulopathy: a unique patient or a novel metabolic disorder?

Waters PJ, Khashu M, Lillquist Y, Senger C, Mattman A, Demos M, Setchell K, Rupar A, Scott P, Blau N, Vallance HD. Waters PJ, et al. Among authors: lillquist y. Mol Genet Metab. 2005 Dec;86 Suppl 1:S148-52. doi: 10.1016/j.ymgme.2005.07.032. Epub 2005 Sep 21. Mol Genet Metab. 2005. PMID: 16182582

4

Newborn screening for MCAD deficiency: experience of the first three years in British Columbia, Canada.

Horvath GA, Davidson AG, Stockler-Ipsiroglu SG, Lillquist YP, Waters PJ, Olpin S, Andresen BS, Palaty J, Nelson J, Vallance H. Horvath GA, et al. Can J Public Health. 2008 Jul-Aug;99(4):276-80. doi: 10.1007/BF03403754. Can J Public Health. 2008. PMID: 18767270 Free PMC article.

5

Infantile cardioencephalopathy due to a COX15 gene defect: report and review.

Alfadhel M, Lillquist YP, Waters PJ, Sinclair G, Struys E, McFadden D, Hendson G, Hyams L, Shoffner J, Vallance HD. Alfadhel M, et al. Among authors: lillquist yp. Am J Med Genet A. 2011 Apr;155A(4):840-4. doi: 10.1002/ajmg.a.33881. Epub 2011 Mar 15. Am J Med Genet A. 2011. PMID: 21412973 Review.

6

Carnitine transporter defect due to a novel mutation in the SLC22A5 gene presenting with peripheral neuropathy.

Makhseed N, Vallance HD, Potter M, Waters PJ, Wong LT, Lillquist Y, Pasquali M, Amat di San Filippo C, Longo N. Makhseed N, et al. Among authors: lillquist y. J Inherit Metab Dis. 2004;27(6):778-80. doi: 10.1023/b:boli.0000045837.23328.f4. J Inherit Metab Dis. 2004. PMID: 15617188

7

Long-term outcomes of blood phenylalanine concentrations in children with classical phenylketonuria.

Hartnett C, Salvarinova-Zivkovic R, Yap-Todos E, Cheng B, Giezen A, Horvath G, Lillquist Y, Vallance H, Stockler-Ipsiroglu S. Hartnett C, et al. Among authors: lillquist y. Mol Genet Metab. 2013 Apr;108(4):255-8. doi: 10.1016/j.ymgme.2013.01.007. Epub 2013 Jan 23. Mol Genet Metab. 2013. PMID: 23465864

8

The paradox of the carnitine palmitoyltransferase type Ia P479L variant in Canadian Aboriginal populations.

Greenberg CR, Dilling LA, Thompson GR, Seargeant LE, Haworth JC, Phillips S, Chan A, Vallance HD, Waters PJ, Sinclair G, Lillquist Y, Wanders RJ, Olpin SE. Greenberg CR, et al. Among authors: lillquist y. Mol Genet Metab. 2009 Apr;96(4):201-7. doi: 10.1016/j.ymgme.2008.12.018. Epub 2009 Feb 13. Mol Genet Metab. 2009. PMID: 19217814

9

Individualized long-term outcomes in blood phenylalanine concentrations and dietary phenylalanine tolerance in 11 patients with primary phenylalanine hydroxylase (PAH) deficiency treated with Sapropterin-dihydrochloride.

Stockler-Ipsiroglu S, Yuskiv N, Salvarinova R, Apatean D, Ho G, Cheng B, Giezen A, Lillquist Y, Ueda K. Stockler-Ipsiroglu S, et al. Among authors: lillquist y. Mol Genet Metab. 2015 Mar;114(3):409-14. doi: 10.1016/j.ymgme.2014.11.014. Epub 2014 Dec 3. Mol Genet Metab. 2015. PMID: 25497838 Free article.

10

Precocious puberty in two girls with PEHO syndrome: a clinical feature not previously described.

Alfadhel M, Yong SL, Lillquist Y, Langlois S. Alfadhel M, et al. Among authors: lillquist y. J Child Neurol. 2011 Jul;26(7):851-7. doi: 10.1177/0883073810396582. Epub 2011 May 18. J Child Neurol. 2011. PMID: 21596701

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