Tong SF - Search Results

1

A novel missense mutation (P191L) in the glucose-6-phosphate translocase gene identified in a Chinese family with glycogen storage disease 1b.

Lam CW, Chan KY, Tong SF, Chan BY, Chan YT, Chan YW. Lam CW, et al. Among authors: tong sf. Hum Mutat. 2000 Jul;16(1):94. doi: 10.1002/1098-1004(200007)16:1<94::AID-HUMU26>3.0.CO;2-Q. Hum Mutat. 2000. PMID: 10874322 No abstract available.

2

Definition of the correct sequence in the donor splice site of intron 2 in the human glucose 6-phosphate translocase gene.

Lam CW, Chan BY, Tong SF. Lam CW, et al. Among authors: tong sf. FEBS Lett. 1999 Feb 26;445(2-3):449-50. doi: 10.1016/s0014-5793(99)00167-2. FEBS Lett. 1999. PMID: 10094505 Free article. No abstract available.

3

Juvenile-onset glycogen storage disease type II with novel mutations in acid alpha-glucosidase gene.

Lam CW, Yuen YP, Chan KY, Tong SF, Lai CK, Chow TC, Lee KC, Chan YW, Martiniuk F. Lam CW, et al. Among authors: tong sf. Neurology. 2003 Feb 25;60(4):715-7. doi: 10.1212/01.wnl.0000048661.95327.bf. Neurology. 2003. PMID: 12601120

4

Glucose-6-phosphatase gene (727G-->T) splicing mutation is prevalent in Hong Kong Chinese patients with glycogen storage disease type 1a.

Lam CW, But WM, Shek CC, Tong SF, Chan YS, Choy KW, Tse WY, Pang CP, Hjelm NM. Lam CW, et al. Among authors: tong sf. Clin Genet. 1998 Mar;53(3):184-90. doi: 10.1111/j.1399-0004.1998.tb02674.x. Clin Genet. 1998. PMID: 9630072

5

A novel DraI polymorphism in the 3' untranslated region of human glucose-6-phosphatase gene: useful for carrier detection and prenatal diagnosis of glycogen storage disease type 1a.

Lam CW, Liang MH, Pang CP, Tong SF, Wong LJ. Lam CW, et al. Among authors: tong sf. Clin Genet. 1998 Jun;53(6):502-3. doi: 10.1111/j.1399-0004.1998.tb02604.x. Clin Genet. 1998. PMID: 9712544 No abstract available.

6

Novel single nucleotide polymorphisms (3203A>G and 3204C>T) in the 3' end of the mitochondrial 16S rRNA gene.

Yang T, Lam CW, Tsang MW, Tong SF, Chan LY, Kam GY, Poon PM, Wu XQ, Pang CP. Yang T, et al. Among authors: tong sf. Hum Mutat. 2000 Oct;16(4):375. doi: 10.1002/1098-1004(200010)16:4<375::AID-HUMU20>3.0.CO;2-F. Hum Mutat. 2000. PMID: 11013458 No abstract available.

7

Prenatal diagnosis of glycogen storage disease type 1b using denaturing high performance liquid chromatography.

Lam CW, Sin SY, Lau ET, Lam YY, Poon P, Tong SF. Lam CW, et al. Among authors: tong sf. Prenat Diagn. 2000 Sep;20(9):765-8. doi: 10.1002/1097-0223(200009)20:9<765::aid-pd893>3.0.co;2-s. Prenat Diagn. 2000. PMID: 11015710

8

Novel mutation and polymorphisms of the HMBS gene detected by denaturing HPLC.

Lam CW, Poon PM, Tong SF, Lo AW, Lai CK, Choi KL, Tiu SC, Chan YW, Shek CC. Lam CW, et al. Among authors: tong sf. Clin Chem. 2001 Feb;47(2):343-6. Clin Chem. 2001. PMID: 11159788 No abstract available.

9

Novel mutation in the GRHPR gene in a Chinese patient with primary hyperoxaluria type 2 requiring renal transplantation from a living related donor.

Lam CW, Yuen YP, Lai CK, Tong SF, Lau LK, Tong KL, Chan YW. Lam CW, et al. Among authors: tong sf, tong kl. Am J Kidney Dis. 2001 Dec;38(6):1307-10. doi: 10.1053/ajkd.2001.29229. Am J Kidney Dis. 2001. PMID: 11728965

10

Molecular genetic analysis of a Chinese patient with Fabry disease.

Lam CW, Mak YT, Lo YM, Tong SF, To KF, Lai FM. Lam CW, et al. Among authors: tong sf. Chin Med J (Engl). 2000 Feb;113(2):186-8. Chin Med J (Engl). 2000. PMID: 11775551 No abstract available.

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