Lei KJ - Search Results

1

The gene for glycogen-storage disease type 1b maps to chromosome 11q23.

Annabi B, Hiraiwa H, Mansfield BC, Lei KJ, Ubagai T, Polymeropoulos MH, Moses SW, Parvari R, Hershkovitz E, Mandel H, Fryman M, Chou JY. Annabi B, et al. Among authors: lei kj. Am J Hum Genet. 1998 Feb;62(2):400-5. doi: 10.1086/301727. Am J Hum Genet. 1998. PMID: 9463334 Free PMC article.

2

Identification of mutations in the gene for glucose-6-phosphatase, the enzyme deficient in glycogen storage disease type 1a.

Lei KJ, Pan CJ, Shelly LL, Liu JL, Chou JY. Lei KJ, et al. J Clin Invest. 1994 May;93(5):1994-9. doi: 10.1172/JCI117192. J Clin Invest. 1994. PMID: 8182131 Free PMC article.

3

Mutations in the glucose-6-phosphatase gene that cause glycogen storage disease type 1a.

Lei KJ, Shelly LL, Pan CJ, Sidbury JB, Chou JY. Lei KJ, et al. Science. 1993 Oct 22;262(5133):580-3. doi: 10.1126/science.8211187. Science. 1993. PMID: 8211187

4

Glucose-6-phosphatase dependent substrate transport in the glycogen storage disease type-1a mouse.

Lei KJ, Chen H, Pan CJ, Ward JM, Mosinger B Jr, Lee EJ, Westphal H, Mansfield BC, Chou JY. Lei KJ, et al. Nat Genet. 1996 Jun;13(2):203-9. doi: 10.1038/ng0696-203. Nat Genet. 1996. PMID: 8640227

5

Glycogen storage disease type 1a in Israel: biochemical, clinical, and mutational studies.

Parvari R, Lei KJ, Bashan N, Hershkovitz E, Korman SH, Barash V, Lerman-Sagie T, Mandel H, Chou JY, Moses SW. Parvari R, et al. Among authors: lei kj. Am J Med Genet. 1997 Oct 31;72(3):286-90. doi: 10.1002/(sici)1096-8628(19971031)72:3<286::aid-ajmg6>3.0.co;2-p. Am J Med Genet. 1997. PMID: 9332655

6

Two new mutations in the glucose-6-phosphatase gene cause glycogen storage disease in Hungarian patients.

Parvari R, Lei KJ, Szonyi L, Narkis G, Moses S, Chou JY. Parvari R, et al. Among authors: lei kj. Eur J Hum Genet. 1997 Jul-Aug;5(4):191-5. Eur J Hum Genet. 1997. PMID: 9359038

7

Molecular mechanisms of an inborn error of methionine pathway. Methionine adenosyltransferase deficiency.

Ubagai T, Lei KJ, Huang S, Mudd SH, Levy HL, Chou JY. Ubagai T, et al. Among authors: lei kj. J Clin Invest. 1995 Oct;96(4):1943-7. doi: 10.1172/JCI118240. J Clin Invest. 1995. PMID: 7560086 Free PMC article.

8

Structure-function analysis of human glucose-6-phosphatase, the enzyme deficient in glycogen storage disease type 1a.

Lei KJ, Pan CJ, Liu JL, Shelly LL, Chou JY. Lei KJ, et al. J Biol Chem. 1995 May 19;270(20):11882-6. doi: 10.1074/jbc.270.20.11882. J Biol Chem. 1995. PMID: 7744838 Free article.

9

Mutations in the glucose-6-phosphatase gene are associated with glycogen storage disease types 1a and 1aSP but not 1b and 1c.

Lei KJ, Shelly LL, Lin B, Sidbury JB, Chen YT, Nordlie RC, Chou JY. Lei KJ, et al. J Clin Invest. 1995 Jan;95(1):234-40. doi: 10.1172/JCI117645. J Clin Invest. 1995. PMID: 7814621 Free PMC article.

10

Isolation of the gene for murine glucose-6-phosphatase, the enzyme deficient in glycogen storage disease type 1A.

Shelly LL, Lei KJ, Pan CJ, Sakata SF, Ruppert S, Schutz G, Chou JY. Shelly LL, et al. Among authors: lei kj. J Biol Chem. 1993 Oct 15;268(29):21482-5. J Biol Chem. 1993. PMID: 8407995 Free article.

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