Hwu WL - Search Results

1

Expert recommendations for the laboratory diagnosis of MPS VI.

Wood T, Bodamer OA, Burin MG, D'Almeida V, Fietz M, Giugliani R, Hawley SM, Hendriksz CJ, Hwu WL, Ketteridge D, Lukacs Z, Mendelsohn NJ, Miller N, Pasquali M, Schenone A, Schoonderwoerd K, Winchester B, Harmatz P. Wood T, et al. Among authors: hwu wl. Mol Genet Metab. 2012 May;106(1):73-82. doi: 10.1016/j.ymgme.2012.02.005. Epub 2012 Feb 10. Mol Genet Metab. 2012. PMID: 22405600

2

Six novel NPC1 mutations in Chinese patients with Niemann-Pick disease type C.

Yang CC, Su YN, Chiou PC, Fietz MJ, Yu CL, Hwu WL, Lee MJ. Yang CC, et al. Among authors: hwu wl. J Neurol Neurosurg Psychiatry. 2005 Apr;76(4):592-5. doi: 10.1136/jnnp.2004.046045. J Neurol Neurosurg Psychiatry. 2005. PMID: 15774455 Free PMC article.

3

Diagnosis of mucopolysaccharidosis type IIIB.

Chuang SC, Hwu WL, Wu CC, Hou JW, Wang TR. Chuang SC, et al. Among authors: hwu wl. Zhonghua Min Guo Xiao Er Ke Yi Xue Hui Za Zhi. 1996 Sep-Oct;37(5):320-3. Zhonghua Min Guo Xiao Er Ke Yi Xue Hui Za Zhi. 1996. PMID: 8942024

4

Mucopolysaccharidosis type II (Hunter's syndrome) in Taiwan.

Su PH, Hwu WL, Chiang SC, Chiu PC, Lin SJ, Shu SG, Wang TR. Su PH, et al. Among authors: hwu wl. J Formos Med Assoc. 1998 Mar;97(3):186-90. J Formos Med Assoc. 1998. PMID: 9549269

5

Glucose-6-phosphatase gene mutations in Taiwan Chinese patients with glycogen storage disease type Ia.

Chiang SC, Lee YM, Chang MH, Wang TR, Ko TM, Hwu WL. Chiang SC, et al. Among authors: hwu wl. J Hum Genet. 2000;45(4):197-9. doi: 10.1007/s100380070026. J Hum Genet. 2000. PMID: 10944847

6

Miglustat in patients with Niemann-Pick disease Type C (NP-C): a multicenter observational retrospective cohort study.

Pineda M, Wraith JE, Mengel E, Sedel F, Hwu WL, Rohrbach M, Bembi B, Walterfang M, Korenke GC, Marquardt T, Luzy C, Giorgino R, Patterson MC. Pineda M, et al. Among authors: hwu wl. Mol Genet Metab. 2009 Nov;98(3):243-9. doi: 10.1016/j.ymgme.2009.07.003. Epub 2009 Aug 4. Mol Genet Metab. 2009. PMID: 19656703

7

Arylsulfatase A pseudodeficiency in Chinese.

Hwu WL, Tsai LP, Wang WC, Chuang SC, Wang PJ, Wang TR. Hwu WL, et al. Hum Genet. 1996 Feb;97(2):148-9. doi: 10.1007/BF02265256. Hum Genet. 1996. PMID: 8566944

8

Molecular genetics of glycogen-storage disease type 1a in Chinese patients of Taiwan.

Wong LJ, Hwu WL, Dai P, Chen TJ. Wong LJ, et al. Among authors: hwu wl. Mol Genet Metab. 2001 Feb;72(2):175-80. doi: 10.1006/mgme.2000.3129. Mol Genet Metab. 2001. PMID: 11161844

9

Identification of eight novel mutations of the acid alpha-glucosidase gene causing the infantile or juvenile form of glycogen storage disease type II.

Wan L, Lee CC, Hsu CM, Hwu WL, Yang CC, Tsai CH, Tsai FJ. Wan L, et al. Among authors: hwu wl. J Neurol. 2008 Jun;255(6):831-8. doi: 10.1007/s00415-008-0714-0. Epub 2008 May 6. J Neurol. 2008. PMID: 18458862

10

Two novel mutations in the alpha-galactosidase A gene in Chinese patients with Fabry disease.

Yang CC, Lai LW, Whitehair O, Hwu WL, Chiang SC, Lien YH. Yang CC, et al. Among authors: hwu wl. Clin Genet. 2003 Mar;63(3):205-9. doi: 10.1034/j.1399-0004.2003.00050.x. Clin Genet. 2003. PMID: 12694230

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