Yap S - Search Results

1

Guidelines for the diagnosis and management of cystathionine beta-synthase deficiency.

Morris AA, Kožich V, Santra S, Andria G, Ben-Omran TI, Chakrapani AB, Crushell E, Henderson MJ, Hochuli M, Huemer M, Janssen MC, Maillot F, Mayne PD, McNulty J, Morrison TM, Ogier H, O'Sullivan S, Pavlíková M, de Almeida IT, Terry A, Yap S, Blom HJ, Chapman KA. Morris AA, et al. Among authors: yap s. J Inherit Metab Dis. 2017 Jan;40(1):49-74. doi: 10.1007/s10545-016-9979-0. Epub 2016 Oct 24. J Inherit Metab Dis. 2017. PMID: 27778219 Free PMC article. Review.

2

Diversity of cystathionine beta-synthase haplotypes bearing the most common homocystinuria mutation c.833T>C: a possible role for gene conversion.

Vyletal P, Sokolová J, Cooper DN, Kraus JP, Krawczak M, Pepe G, Rickards O, Koch HG, Linnebank M, Kluijtmans LA, Blom HJ, Boers GH, Gaustadnes M, Skovby F, Wilcken B, Wilcken DE, Andria G, Sebastio G, Naughten ER, Yap S, Ohura T, Pronicka E, Laszlo A, Kozich V. Vyletal P, et al. Among authors: yap s. Hum Mutat. 2007 Mar;28(3):255-64. doi: 10.1002/humu.20430. Hum Mutat. 2007. PMID: 17072863 Free PMC article.

3

Newborn screening for homocystinuria: Irish and world experience.

Naughten ER, Yap S, Mayne PD. Naughten ER, et al. Among authors: yap s. Eur J Pediatr. 1998 Apr;157 Suppl 2:S84-7. doi: 10.1007/pl00014310. Eur J Pediatr. 1998. PMID: 9587032

4

Homocystinuria due to cystathionine beta-synthase deficiency in Ireland: 25 years' experience of a newborn screened and treated population with reference to clinical outcome and biochemical control.

Yap S, Naughten E. Yap S, et al. J Inherit Metab Dis. 1998 Oct;21(7):738-47. doi: 10.1023/a:1005445132327. J Inherit Metab Dis. 1998. PMID: 9819703

5

Factor V Leiden (Arg506Gln), a confounding genetic risk factor but not mandatory for the occurrence of venous thromboembolism in homozygotes and obligate heterozygotes for cystathionine beta-synthase deficiency.

Yap S, O'Donnell KA, O'Neill C, Mayne PD, Thornton P, Naughten E. Yap S, et al. Thromb Haemost. 1999 Apr;81(4):502-5. Thromb Haemost. 1999. PMID: 10235428

6

The intellectual abilities of early-treated individuals with pyridoxine-nonresponsive homocystinuria due to cystathionine beta-synthase deficiency.

Yap S, Rushe H, Howard PM, Naughten ER. Yap S, et al. J Inherit Metab Dis. 2001 Aug;24(4):437-47. doi: 10.1023/a:1010525528842. J Inherit Metab Dis. 2001. PMID: 11596648

7

Vascular complications of severe hyperhomocysteinemia in patients with homocystinuria due to cystathionine beta-synthase deficiency: effects of homocysteine-lowering therapy.

Yap S, Naughten ER, Wilcken B, Wilcken DE, Boers GH. Yap S, et al. Semin Thromb Hemost. 2000;26(3):335-40. doi: 10.1055/s-2000-8100. Semin Thromb Hemost. 2000. PMID: 11011851 Review.

8

Classical homocystinuria: vascular risk and its prevention.

Yap S. Yap S. J Inherit Metab Dis. 2003;26(2-3):259-65. doi: 10.1023/a:1024497419821. J Inherit Metab Dis. 2003. PMID: 12889665 Review.

9

Vascular outcome in patients with homocystinuria due to cystathionine beta-synthase deficiency treated chronically: a multicenter observational study.

Yap S, Boers GH, Wilcken B, Wilcken DE, Brenton DP, Lee PJ, Walter JH, Howard PM, Naughten ER. Yap S, et al. Arterioscler Thromb Vasc Biol. 2001 Dec;21(12):2080-5. doi: 10.1161/hq1201.100225. Arterioscler Thromb Vasc Biol. 2001. PMID: 11742888 Clinical Trial.

10

Late-infantile 3-methylcrotonyl-CoA carboxylase deficiency presenting as global developmental delay.

Yap S, Monavari AA, Thornton P, Naughten E. Yap S, et al. J Inherit Metab Dis. 1998 Apr;21(2):175-6. doi: 10.1023/a:1005372432116. J Inherit Metab Dis. 1998. PMID: 9584271 No abstract available.

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