Sugie H - Search Results

1

Case report: Hepatocellular carcinoma in type 1a glycogen storage disease with identification of a glucose-6-phosphatase gene mutation in one family.

Nakamura T, Ozawa T, Kawasaki T, Yasumi K, Wang DY, Kitagawa M, Takehira Y, Tamakoshi K, Yamada M, Kida H, Sugie H, Nakamura H, Sugimura H. Nakamura T, et al. Among authors: sugie h. J Gastroenterol Hepatol. 1999 Jun;14(6):553-8. doi: 10.1046/j.1440-1746.1999.01914.x. J Gastroenterol Hepatol. 1999. PMID: 10385064

2

Cerebral oxygen and glucose metabolism in glycogen storage disease with normal acid maltase: case report.

Katsumi Y, Fukuyama H, Ogawa M, Matsui M, Tokonami F, Aii H, Sugie H, Murakami N, Nonaka I. Katsumi Y, et al. Among authors: sugie h. J Neurol Sci. 1996 Sep 1;140(1-2):46-52. doi: 10.1016/0022-510x(96)00077-9. J Neurol Sci. 1996. PMID: 8866426

3

Glycogen storage disease type Ib without neutropenia.

Kure S, Hou DC, Suzuki Y, Yamagishi A, Hiratsuka M, Fukuda T, Sugie H, Kondo N, Matsubara Y, Narisawa K. Kure S, et al. Among authors: sugie h. J Pediatr. 2000 Aug;137(2):253-6. doi: 10.1067/mpd.2000.107472. J Pediatr. 2000. PMID: 10931421

4

[Nation-wide survey on muscle glycogen storage disease (MGSDs) and comparison with our experiences in diagnosis of MGSDs].

Fukuda T, Sugie H, Ito M, Sugie Y, Saito K, Nishino I, Shimizu T. Fukuda T, et al. Among authors: sugie h, sugie y. Rinsho Shinkeigaku. 2003 May;43(5):243-8. Rinsho Shinkeigaku. 2003. PMID: 12931628 Japanese.

5

Novel mutations in two Japanese cases of glycogen storage disease type IIIa and a review of the literature of the molecular basis of glycogen storage disease type III.

Fukuda T, Sugie H, Ito M. Fukuda T, et al. Among authors: sugie h. J Inherit Metab Dis. 2000 Mar;23(2):95-106. doi: 10.1023/a:1005695229464. J Inherit Metab Dis. 2000. PMID: 10801050

6

A novel mutation in the glucose-6-phosphatase gene in Korean twins with glycogen storage disease type Ia.

Goto M, Taki T, Sugie H, Miki Y, Kato H, Hayashi Y. Goto M, et al. Among authors: sugie h. J Inherit Metab Dis. 2000 Dec;23(8):851-2. doi: 10.1023/a:1026777106212. J Inherit Metab Dis. 2000. PMID: 11196115 No abstract available.

7

Congenital form of glycogen storage disease type IV: a case report and a review of the literature.

Maruyama K, Suzuki T, Koizumi T, Sugie H, Fukuda T, Ito M, Hirato J. Maruyama K, et al. Among authors: sugie h. Pediatr Int. 2004 Aug;46(4):474-7. doi: 10.1111/j.1442-200x.2004.01916.x. Pediatr Int. 2004. PMID: 15310318 Review. No abstract available.

8

Genetic analysis of Japanese patients with myophosphorylase deficiency (McArdle's disease): single-codon deletion in exon 17 is the predominant mutation.

Sugie H, Sugie Y, Ito M, Fukuda T, Nonaka I, Igarashi Y. Sugie H, et al. Among authors: sugie y. Clin Chim Acta. 1995 Apr 30;236(1):81-6. doi: 10.1016/0009-8981(95)06044-x. Clin Chim Acta. 1995. PMID: 7664468

9

Novel exon 11 skipping mutation in a patient with glycogen storage disease type IIId.

Sugie H, Fukuda T, Ito M, Sugie Y, Kojoh T, Nonaka I. Sugie H, et al. Among authors: sugie y. J Inherit Metab Dis. 2001 Oct;24(5):535-45. doi: 10.1023/a:1012459625902. J Inherit Metab Dis. 2001. PMID: 11757581

10

A case of Costello syndrome and glycogen storage disease type III.

Kaji M, Kurokawa K, Hasegawa T, Oguro K, Saito A, Fukuda T, Ito M, Sugie H. Kaji M, et al. Among authors: sugie h. J Med Genet. 2002 Feb;39(2):E8. doi: 10.1136/jmg.39.2.e8. J Med Genet. 2002. PMID: 11836377 Free PMC article. No abstract available.

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