1 |
Yang HR, Seo JK. Long-term outcome of glycogen storage disease type Ia : analysis of risk factors for hepatic adenoma. Korean J Pediatr Gastroenterol 2003;6:129-39.
|
2 |
Lei KJ, Shelly LL, Pan CJ, Sidbury JB, Chou JY. Mutations in the glucose-6-phosphatase gene that cause glycogen storage disease type 1a. Science 1993;262:580-3.
DOI
|
3 |
Rake JP, ten Berge AM, Visser G, Verlind E, Niezen-Koning KE, Buys CH, et al. Glycogen storage disease type Ia: recent experience with mutation analysis, a summary of mutations reported in the literature and a newly developed diagnostic flow chart. Eur J Pediatr 2000;159:322-30.
DOI
ScienceOn
|
4 |
Applegarth DA, Toone JR, Lowry RB. Incidence of inborn errors of metabolism in British Columbia, 1969-1996. Pediatrics 2000;105:e10.
DOI
ScienceOn
|
5 |
Rake JP, Visser G, Labrune P, Leonard JV, Ullrich K, Smit GP. Glycogen storage disease type I: diagnosis, management, clinical course and outcome. Results of the European Study on Glycogen Storage Disease Type I (ESGSD I). Eur J Pediatr 2002;161 (Suppl 1):S20-34.
DOI
|
6 |
Choi J, Ko JM, Kim GH, Yoo HW. Clinical manifestation and effect of corn starch on height growth in Korean patients with glycogen storage disease type Ia. J Korean Soc Pediatr Endocrinol 2007;12:35-40.
|
7 |
Chen YT, Cornblath M, Sidbury JB. Cornstarch therapy in type I glycogen storage disease. N Engl J Med 1984;310:171-175.
DOI
ScienceOn
|
8 |
Lee DG, Park SH, Choi JM, Seo GH, Lee JS, Yang MJ, et al. A case of multiple hepatic adenomas and gout with glycogen storage disease type Ia. Korean J Med 2009;76:1-5.
과학기술학회마을
|
9 |
Ubels FL, Rake JP, Staets JP, Smit GP, Smit AJ. Is Glycogen storage disease Ia associated with atherosclerosis? Eur J Pediatr 2002;161 Suppl1:62-4.
DOI
|
10 |
Matern D, Seydewitz HH, Bali D, Lang C, Chen YT. Glycogen storage disease type I: diagnosis and phenotype/genotype correlation. Eur J Pediatr 2002;161 Suppl1:10-9.
DOI
|
11 |
Akanuma J, Nishigaki T, Fujii K, Matsubara Y, Inui K, Takahashi K, et al. Glycogen storage disease type Ia: molecular diagnosis of 51 Japanese patients and characterization of splicing mutations by analysis of ectopically transcribed mRNA from lymphoblastoid cells. Am J Med Genet 2000;91:107-12.
DOI
ScienceOn
|
12 |
Chiang SC, Lee YM, Chang MH, Wang TR, Ko TM, Hwu WL. Glucose-6-phosphatase gene mutations in Taiwan Chinese patients with glycogen storage disease type Ia. J Hum Genet 2000;45:197-9.
DOI
ScienceOn
|
13 |
Lee HJ, Eun JR, Jang BI, Lee JH, Lee HW, Choi JH, et al. A case of glycogen storage disease type Ia performed molecular genetic analysis. Korean J Med 2006;71:91-96.
과학기술학회마을
|
14 |
Goto M, Taki T, Sugie H, Miki Y, Kato H, Hayashi Y. A novel mutation in the glucose-6-phosphatase gene in Korean twins with glycogen storage disease type Ia. J Inherit Metab Dis 2000;23:851-2.
DOI
ScienceOn
|
15 |
Kajihara S, Matsuhashi S, Yamamoto K, Kido K, Tsuji K, Tanae A, et al. Exon redefinition by a point mutation within exon 5 of the glucose-6-phosphatase gene is the major cause of glycogen storage disease type 1a in Japan. Am J Hum Genet 1995;57:549-555.
|
16 |
Ki CS, Han SH, Kim HJ, Lee SG, Kim EJ, Kim JW, et al. Mutation spectrum of the glucose-6-phosphatase gene and its implication in molecular diagnosis of Korean patients with glycogen storage disease type Ia. Clin Genet 2004;65:487-9.
DOI
ScienceOn
|
17 |
Ko JS, Yang HR, Kim JW, Seo JK. Clinical finding of genotypes in Korean patients with glycogen storage disease type Ia.Korean J Pediatr 2005;48:877-81.
|
18 |
Cori GT, Cori CF. Glucose-6-phosphatase of liver in glycogen storage disease. J Biol Chem 1952;199:661-7.
|
19 |
Koh CS, Lee MH, Kim YI, Suh DJ, Shin SH, Chung HK. A case of von Gierke's disease. Korean J Med 1972;15:46-52.
|
20 |
Ko JS, Yang HR, Kim JW, Seo JK. Clinical findings of genotypes in Korean patients with glycogen storage disease type Ia. Korean J Pediatr 2005;48:877-80.
과학기술학회마을
|
21 |
Goutieres F, Bourgeois M, Trioche P, Demelier JF, Odievre M, Labrune P. Moyamoya disease in a child with glycogen storage disease type Ia. Neuropediatrics 1997;28:133-4.
DOI
ScienceOn
|
22 |
Melis D, Pivonello R, Parenti G, Casa RD, Salerno M, Lombardi G, et al. Increased prevalence of thyroid autoimmunity and hypothyroidism in patients with glycogen storage disease type I. J Pediatr 2006;150:300-5.
|