Hui J - Search Results

1

Diagnosing Wilson's disease in a 5-year-old child.

Hui J, Fung EL, Tang NL, Chan MH, To KF, Fok TF. Hui J, et al. J Paediatr Child Health. 2002 Aug;38(4):412-3. doi: 10.1046/j.1440-1754.2002.00023.x. J Paediatr Child Health. 2002. PMID: 12174008 No abstract available.

2

Primary plasmalemmal carnitine transporter defect manifested with dicarboxylic aciduria and impaired fatty acid oxidation.

Tang NL, Hui J, Law LK, To KF, Ruiter JP, IJlst L, Wanders RJ, Ho CS, Fok TF, Yuen PM, Hjelm NM. Tang NL, et al. Among authors: hui j. J Inherit Metab Dis. 1998 Jun;21(4):423-5. doi: 10.1023/a:1005314910623. J Inherit Metab Dis. 1998. PMID: 9700600 No abstract available.

3

Telemedicine conference on a 13-year-old Chinese girl with an unusual skeletal condition.

Hui J, Yeung WL, Wong G, Fok TF, Griffith J, Cheng JC, Hjelm M, Hall C, Shaw D. Hui J, et al. J Telemed Telecare. 1998;4(2):120-1. doi: 10.1258/1357633981931957. J Telemed Telecare. 1998. PMID: 9744169 No abstract available.

4

A Chinese girl with Leigh syndrome: effect of botulinum toxin on dystonia.

Leung TF, Hui J, Yeung WL, Goh K. Leung TF, et al. Among authors: hui j. J Paediatr Child Health. 1998 Oct;34(5):480-2. doi: 10.1046/j.1440-1754.1998.00275.x. J Paediatr Child Health. 1998. PMID: 9767517

5

Mutations of OCTN2, an organic cation/carnitine transporter, lead to deficient cellular carnitine uptake in primary carnitine deficiency.

Tang NL, Ganapathy V, Wu X, Hui J, Seth P, Yuen PM, Wanders RJ, Fok TF, Hjelm NM. Tang NL, et al. Among authors: hui j. Hum Mol Genet. 1999 Apr;8(4):655-60. doi: 10.1093/hmg/8.4.655. Hum Mol Genet. 1999. PMID: 10072434

6

Severe hypokalemic myopathy in Gitelman's syndrome.

Tang NL, Hui J, To KF, Ng HK, Hjelm NM, Fok TF. Tang NL, et al. Among authors: hui j. Muscle Nerve. 1999 Apr;22(4):545-7. doi: 10.1002/(sici)1097-4598(199904)22:4<545::aid-mus25>3.0.co;2-w. Muscle Nerve. 1999. PMID: 10204797 No abstract available.

7

Recurrent and novel mutations of GCDH gene in Chinese glutaric acidemia type I families.

Tang NL, Hui J, Law LK, Lam YY, Chan KY, Yeung WL, Chan AY, Cheung KL, Fok TF. Tang NL, et al. Among authors: hui j. Hum Mutat. 2000 Nov;16(5):446. doi: 10.1002/1098-1004(200011)16:5<446::AID-HUMU14>3.0.CO;2-Y. Hum Mutat. 2000. PMID: 11058907

8

Spectrum of mutations in the MECP2 gene in patients with infantile autism and Rett syndrome.

Lam CW, Yeung WL, Ko CH, Poon PM, Tong SF, Chan KY, Lo IF, Chan LY, Hui J, Wong V, Pang CP, Lo YM, Fok TF. Lam CW, et al. Among authors: hui j. J Med Genet. 2000 Dec;37(12):E41. doi: 10.1136/jmg.37.12.e41. J Med Genet. 2000. PMID: 11106359 Free PMC article. No abstract available.

9

Grading of acute and chronic renal lesions in Henoch-Schönlein purpura.

Szeto CC, Choi PC, To KF, Li PK, Hui J, Chow KM, Leung CB, Lui SF, Mac-Moune Lai F. Szeto CC, et al. Among authors: hui j. Mod Pathol. 2001 Jul;14(7):635-40. doi: 10.1038/modpathol.3880364. Mod Pathol. 2001. PMID: 11454994

10

Overview of common inherited metabolic diseases in a Southern Chinese population of Hong Kong.

Tang NL, Hui J, Law LK, To KF, Mak TW, Cheung KL, Vreken P, Wanders RJ, Fok TF. Tang NL, et al. Among authors: hui j. Clin Chim Acta. 2001 Nov;313(1-2):195-201. doi: 10.1016/s0009-8981(01)00673-8. Clin Chim Acta. 2001. PMID: 11694259 Review.

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