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- 1. グリコーゲン脱分枝酵素欠損症（糖原病III型） glycogen debrancher deficiency glycogen storage disease iii
- 2. リソソーム酸α-グルコシダーゼ欠損症（ポンペ病、糖原病II型、酸マルターゼ欠損症） lysosomal acid alpha glucosidase deficiency pompe disease glycogen storage disease ii acid maltase deficiency
English Journal
- Oral delivery of Acid Alpha Glucosidase epitopes expressed in plant chloroplasts suppresses antibody formation in treatment of Pompe mice.
- Su J1, Sherman A2, Doerfler PA2, Byrne BJ2, Herzog RW2, Daniell H1.
- Plant biotechnology journal.Plant Biotechnol J.2015 Jun 5. doi: 10.1111/pbi.12413. [Epub ahead of print]
- Deficiency of acid alpha glucosidase (GAA) causes Pompe disease in which the patients systemically accumulate lysosomal glycogen in muscles and nervous systems, often resulting in infant mortality. Although enzyme replacement therapy (ERT) is effective in treating patients with Pompe disease, format
- PMID 26053072
- Combined aerobic exercise and enzyme replacement therapy rejuvenates the mitochondrial-lysosomal axis and alleviates autophagic blockage in Pompe disease.
- Nilsson MI1, MacNeil LG1, Kitaoka Y1, Suri R1, Young SP2, Kaczor JJ3, Nates NJ1, Ansari MU1, Wong T1, Ahktar M1, Brandt L1, Hettinga BP1, Tarnopolsky MA4.
- Free radical biology & medicine.Free Radic Biol Med.2015 May 19. pii: S0891-5849(15)00230-0. doi: 10.1016/j.freeradbiomed.2015.05.019. [Epub ahead of print]
- A unifying feature in the pathogenesis of aging, neurodegenerative disease, and lysosomal storage disorders is the progressive deposition of macromolecular debris impervious to enzyme catalysis by cellular waste disposal mechanisms (e.g., lipofuscin). Aerobic exercise training (AET) has pleiotropic
- PMID 26001726
- Novel GAA mutations in patients with Pompe disease.
- Turaça LT1, de Faria DO1, Kyosen SO2, Teixeira VD1, Motta FL1, Pessoa JG1, Rodrigues E Silva M1, de Almeida SS1, D'Almeida V3, Munoz Rojas MV4, Martins AM2, Pesquero JB5.
- Gene.Gene.2015 Apr 25;561(1):124-31. doi: 10.1016/j.gene.2015.02.023. Epub 2015 Feb 12.
- Pompe disease is an autosomal recessive disorder linked to GAA gene that leads to a multi-system intralysosomal accumulation of glycogen. Mutation identification in the GAA gene can be very important for early diagnosis, correlation between genotype-phenotype and therapeutic intervention. For this p
- PMID 25681614
Japanese Journal
- Anti-rhGAA antibody formation in Chinese Pompe disease infants underwent enzyme replacement therapy
- CHIEN Yin-Hsiu,LEE Ni-Chung,CHIANG Shu-Chuan,HWU Wuh-Liang
- 日本先天代謝異常学会雑誌 26(1), 85-91, 2010-07-30
- NAID 10031002556
- 乳児期発症Ｐｏｍｐｅ病患児に対する酵素補充療法
- 富士川 善直,木下 悟,宮本 雄策,中山 東城,遠藤 雄策,佐々木 征行
- 脳と発達 39(5), 383-386, 2007
- … 今回, 遺伝子組換えヒト酸性α-グルコシダーゼ製剤 (rhGAA) の使用機会を得た.症例は乳児期発症Pompe病の男児. …
- NAID 130004183884
- Pompe病--その効果と問題点 (特大号/先天代謝異常症--日常診療で必須の知識) -- (酵素補充療法)
- 小林 博司,衞藤 義勝
- 小児科診療 69(11), 1743-1747, 2006-11
- NAID 40015140187
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- Dr. B. Devlin Synpac (NC), Inc. United States of America Synpac (NC), Inc In 1993, Synpac Pharmaceuticals became involved in developing an Enzyme ReplacementTherapy for Pompe´s disease when it began ... In 1993, Synpac ...
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★リンクテーブル★
| リンク元 | 「組換え型ヒト酸性αグルコシダーゼ」「alglucosidase alfa」「human acid alpha-glucosidase」「recombinant human acid alpha-glucosidase」 |