Sugie H - Search Results

1

Effects of enzyme replacement therapy on five patients with advanced late-onset glycogen storage disease type II: a 2-year follow-up study.

Furusawa Y, Mori-Yoshimura M, Yamamoto T, Sakamoto C, Wakita M, Kobayashi Y, Fukumoto Y, Oya Y, Fukuda T, Sugie H, Hayashi YK, Nishino I, Nonaka I, Murata M. Furusawa Y, et al. Among authors: sugie h. J Inherit Metab Dis. 2012 Mar;35(2):301-10. doi: 10.1007/s10545-011-9393-6. Epub 2011 Oct 7. J Inherit Metab Dis. 2012. PMID: 21984055

2

Acid phosphatase-positive globular inclusions is a good diagnostic marker for two patients with adult-onset Pompe disease lacking disease specific pathology.

Tsuburaya RS, Monma K, Oya Y, Nakayama T, Fukuda T, Sugie H, Hayashi YK, Nonaka I, Nishino I. Tsuburaya RS, et al. Among authors: sugie h. Neuromuscul Disord. 2012 May;22(5):389-93. doi: 10.1016/j.nmd.2011.11.003. Epub 2011 Dec 21. Neuromuscul Disord. 2012. PMID: 22196155

3

[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.

4

Muscle glycogen storage disease 0 presenting recurrent syncope with weakness and myalgia.

Sukigara S, Liang WC, Komaki H, Fukuda T, Miyamoto T, Saito T, Saito Y, Nakagawa E, Sugai K, Hayashi YK, Sugie H, Sasaki M, Nishino I. Sukigara S, et al. Among authors: sugie h. Neuromuscul Disord. 2012 Feb;22(2):162-5. doi: 10.1016/j.nmd.2011.08.008. Epub 2011 Sep 29. Neuromuscul Disord. 2012. PMID: 21958591

5

[Enzyme Replacement Therapy for Pompe Disease: The Long-Term Efficacy and Limitation].

Fukuda T, Sugie H. Fukuda T, et al. Among authors: sugie h. Brain Nerve. 2015 Sep;67(9):1091-8. doi: 10.11477/mf.1416200265. Brain Nerve. 2015. PMID: 26329149 Review. Japanese.

6

A 78-year-old Japanese male with late-onset PHKA1-associated distal myopathy: Case report and literature review.

Mori-Yoshimura M, Aizawa K, Oya Y, Saito Y, Fukuda T, Sugie H, Nishino I, Takahashi Y. Mori-Yoshimura M, et al. Among authors: sugie h. Neuromuscul Disord. 2022 Sep;32(9):769-773. doi: 10.1016/j.nmd.2022.05.010. Epub 2022 May 24. Neuromuscul Disord. 2022. PMID: 35710611 Review.

7

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

8

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.

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

Distal lipid storage myopathy due to PNPLA2 mutation.

Ohkuma A, Nonaka I, Malicdan MC, Noguchi S, Ohji S, Nomura K, Sugie H, Hayashi YK, Nishino I. Ohkuma A, et al. Among authors: sugie h. Neuromuscul Disord. 2008 Aug;18(8):671-4. doi: 10.1016/j.nmd.2008.06.382. Epub 2008 Jul 26. Neuromuscul Disord. 2008. PMID: 18657972

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