Lin SP - Search Results

1

Utility of whole-exome sequencing for patients with multiple congenital anomalies with or without intellectual disability/developmental delay in East Asia population.

Hsu RH, Lee CH, Chien YH, Lin SP, Hung MZ, Chen NC, Lin YL, Hwu WL, Lee NC. Hsu RH, et al. Among authors: lin yl, lin sp. Mol Genet Genomic Med. 2023 Jun;11(6):e2160. doi: 10.1002/mgg3.2160. Epub 2023 Feb 27. Mol Genet Genomic Med. 2023. PMID: 36849876 Free PMC article.

2

Genetic analysis of mucopolysaccharidosis type VI in Taiwanese patients.

Lin WD, Lin SP, Wang CH, Hwu WL, Chuang CK, Lin SJ, Tsai Y, Chen CP, Tsai FJ. Lin WD, et al. Among authors: lin sj, lin sp. Clin Chim Acta. 2008 Aug;394(1-2):89-93. doi: 10.1016/j.cca.2008.04.014. Epub 2008 Apr 27. Clin Chim Acta. 2008. PMID: 18486607

3

Identification of CpG methylation of the SNRPN gene by methylation-specific multiplex PCR.

Hung CC, Lin SY, Lin SP, Niu DM, Lee NC, Cheng WF, Chen CP, Lin WL, Lee CN, Su YN. Hung CC, et al. Among authors: lin sy, lin wl, lin sp. Electrophoresis. 2009 Jan;30(2):410-6. doi: 10.1002/elps.200800225. Electrophoresis. 2009. PMID: 19137525

4

Incidence of the mucopolysaccharidoses in Taiwan, 1984-2004.

Lin HY, Lin SP, Chuang CK, Niu DM, Chen MR, Tsai FJ, Chao MC, Chiu PC, Lin SJ, Tsai LP, Hwu WL, Lin JL. Lin HY, et al. Among authors: lin sj, lin jl, lin sp. Am J Med Genet A. 2009 May;149A(5):960-4. doi: 10.1002/ajmg.a.32781. Am J Med Genet A. 2009. PMID: 19396827

5

FOXL2 mutations in Taiwanese patients with blepharophimosis, ptosis, epicanthus inversus syndrome.

Lin WD, Chou IC, Lee NC, Wang CH, Hwu WL, Lin SP, Chao MC, Tsai Y, Tsai FJ. Lin WD, et al. Among authors: lin sp. Clin Chem Lab Med. 2010 Apr;48(4):485-8. doi: 10.1515/CCLM.2010.100. Clin Chem Lab Med. 2010. PMID: 20184535

6

Newborn screening for methylmalonic aciduria by tandem mass spectrometry: 7 years' experience from two centers in Taiwan.

Cheng KH, Liu MY, Kao CH, Chen YJ, Hsiao KJ, Liu TT, Lin HY, Huang CH, Chiang CC, Ho HJ, Lin SP, Lee NC, Hwu WL, Lin JL, Hung PY, Niu DM. Cheng KH, et al. Among authors: lin jl, lin hy, lin sp. J Chin Med Assoc. 2010 Jun;73(6):314-8. doi: 10.1016/S1726-4901(10)70067-8. J Chin Med Assoc. 2010. PMID: 20603089 Free article.

7

Enzyme replacement therapy for mucopolysaccharidosis VI--experience in Taiwan.

Lin HY, Chen MR, Chuang CK, Chen CP, Lin DS, Chien YH, Ke YY, Tsai FJ, Pan HP, Lin SJ, Hwu WL, Niu DM, Lee NC, Lin SP. Lin HY, et al. Among authors: lin sj, lin sp, lin ds. J Inherit Metab Dis. 2010 Dec;33 Suppl 3:S421-7. doi: 10.1007/s10545-010-9212-5. Epub 2010 Oct 6. J Inherit Metab Dis. 2010. PMID: 20924685

8

Rapid progressive course of later-onset Pompe disease in Chinese patients.

Yang CC, Chien YH, Lee NC, Chiang SC, Lin SP, Kuo YT, Chen SS, Jong YJ, Hwu WL. Yang CC, et al. Among authors: lin sp. Mol Genet Metab. 2011 Nov;104(3):284-8. doi: 10.1016/j.ymgme.2011.06.010. Epub 2011 Jun 22. Mol Genet Metab. 2011. PMID: 21757382

9

Current diagnosis and management of mucopolysaccharidosis VI in the Asia-Pacific region.

Hwu WL, Okuyama T, But WM, Estrada S, Gu X, Hui J, Kosuga M, Lin SP, Ngu LH, Shi H, Tanaka A, Thong MK, Wattanasirichaigoon D, Wasant P, McGill J. Hwu WL, et al. Among authors: lin sp. Mol Genet Metab. 2012 Sep;107(1-2):136-44. doi: 10.1016/j.ymgme.2012.07.019. Epub 2012 Jul 20. Mol Genet Metab. 2012. PMID: 22864057

10

Natural history and clinical assessment of Taiwanese patients with mucopolysaccharidosis IVA.

Lin HY, Chuang CK, Chen MR, Chiu PC, Ke YY, Niu DM, Tsai FJ, Hwu WL, Lin JL, Lin SP. Lin HY, et al. Among authors: lin jl, lin sp. Orphanet J Rare Dis. 2014 Feb 10;9:21. doi: 10.1186/1750-1172-9-21. Orphanet J Rare Dis. 2014. PMID: 24513086 Free PMC article.

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