PrepTutorEJDIC
- 〈U〉〈C〉(…の)(量・額などの)不足,欠乏《+『of』(『in』)+『名』》 / 〈C〉不足分,不足量,不足額 / 〈C〉(精神・肉体などの)欠陥
UpToDate Contents
全文を閲覧するには購読必要です。 To read the full text you will need to subscribe.
- 1. 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
- 2. 先天性代謝異常：疫学、病因、および臨床的特徴 inborn errors of metabolism epidemiology pathogenesis and clinical features
- 3. グルコースおよびグリコーゲン代謝の遺伝性疾患の概要 overview of inherited disorders of glucose and glycogen metabolism
- 4. 代謝性ミオパチーへのアプローチ approach to the metabolic myopathies
- 5. 脊髄性筋萎縮症 spinal muscular atrophy
Japanese Journal
- Characterization of amylolytic enzyme overproducing mutant of <i>Aspergillus luchuensis</i> obtained by ion beam mutagenesis
- The Journal of General and Applied Microbiology 63(6), 339-346, 2017
- NAID 130006308965
- Structural modeling of mutant α-glucosidases resulting in a processing/transport defect in Pompe disease
- Journal of human genetics 54(6), 324-330, 2009-06-01
- NAID 10030730594
- 乳児期発症Ｐｏｍｐｅ病患児に対する酵素補充療法
- 脳と発達 39(5), 383-386, 2007
- NAID 130004183884
Related Links
- Biosynthesis of acid alpha-glucosidase in late-onset forms of glycogenosis type II (Pompe's disease). FEBS Lett. 1982 Dec 13; 150(1):69-76. [FEBS Lett. 1982] Review alpha-Glucosidase deficiency (Pompe's disease). Enzyme ...
- [Show abstract] [Hide abstract] ABSTRACT: Pompe's disease is a neuromuscular disorder caused by deficiency of lysosomal acid alpha-glucosidase. Recombinant human alpha- glucosidase is under evaluation as therapeutic drug. In ...
Related Pictures
★リンクテーブル★
| リンク元 | 「α-グルコシダーゼ欠損症」 |
| 関連記事 | 「deficiency」 |
「α-グルコシダーゼ欠損症」
「deficiency」
- n.
- 不足、欠乏、欠失、欠如、欠損、不十分。栄養不足、栄養素欠乏、欠乏症。(遺伝子)(染色体内の)遺伝子欠失
- 欠けているもの、不足している物。不足分。不完全なもの、欠点のあるもの
- 関
- absence, agenesis, dearth, defect, defective, deficient, deficit, delete, deletion, deletional, depletion, deprivation, deprive, lack, miss, missing, morphological defect, paucity, scarce, scarcity, starve