maltase deficiency

マルターゼ欠損症

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1. 〈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

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• 1. リソソーム酸マルターゼ欠損症（糖原病II型、ポンペ病） lysosomal acid maltase deficiency glycogen storage disease ii pompe disease
• 2. 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
• 3. 新生児における筋緊張低下を引き起こす末梢神経および筋肉の障害に関する概要 overview of peripheral nerve and muscle disorders causing hypotonia in the newborn
• 4. 代謝性ミオパチーへのアプローチ approach to the metabolic myopathies
• 5. 成人における抗癌剤の投与 dosing of anticancer agents in adults

English Journal

• Reduced bone mineral density in glycogen storage disease type III: evidence for a possible connection between metabolic imbalance and bone homeostasis.

• Melis D1, Rossi A2, Pivonello R3, Del Puente A4, Pivonello C5, Cangemi G6, Negri M7, Colao A8, Andria G9, Parenti G10.
• Bone.Bone.2016 Feb 23;86:79-85. doi: 10.1016/j.bone.2016.02.012. [Epub ahead of print]
• INTRODUCTION: Glycogen storage disease type III (GSDIII) is an inborn error of carbohydrate metabolism caused by deficient activity of glycogen debranching enzyme (GDE). It is characterized by liver, cardiac muscle and skeletal muscle involvement. The presence of systemic complications such as growt
• PMID 26924264

• The Outcome of Infantile Onset Pompe Disease in South of Iran.

• Moravej H1, Karamizadeh Z1, Paran M1.
• Iranian journal of pediatrics.Iran J Pediatr.2016 Feb;26(1):e4473. doi: 10.5812/ijp.4473. Epub 2016 Jan 30.
• BACKGROUND: Infantile Onset Pompe Disease (IOPD) is a rare autosomal recessive neuromuscular disorder. It is associated with cardiomegaly, hypotonia, paresis, and death in the first year of life. Since 2006, following the use of Alglucosidase alfa as Enzyme Replacement Therapy (ERT), the patients' s
• PMID 26848380

• Respiratory muscle training (RMT) in late-onset Pompe disease (LOPD): Effects of training and detraining.

• Jones HN1, Crisp KD2, Robey RR3, Case LE4, Kravitz RM5, Kishnani PS6.
• Molecular genetics and metabolism.Mol Genet Metab.2016 Feb;117(2):120-8. doi: 10.1016/j.ymgme.2015.09.003. Epub 2015 Sep 8.
• BACKGROUND: Determine the effects of a 12-week respiratory muscle training (RMT) program in late-onset Pompe disease (LOPD).METHODS: We investigated the effects of 12-weeks of RMT followed by 3-months detraining using a single-subject A-B-A experimental design replicated across 8 adults with LOPD. T
• PMID 26381077

Japanese Journal

• 非侵襲的陽圧換気中に合併した皮下気腫・縦隔気腫を, 体外式人工呼吸器の併用で治療した遅発型 Pompe 病の1例

• 臨床神経学 50(5), 306-310, 2010-05-01
• NAID 10026900173

• 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

• Sleep disordered breathing in childhood-onset acid maltase deficiency

• Brain & development 31(3), 234-239, 2009-03-01
• NAID 10025579238

Related Links

• AMDA - Acid Maltase Deficiency Association

About AMDA The Acid Maltase Deficiency Association formed to assist in funding research and to promote public awareness of Acid Maltase Deficiency, also known as ... What is Pompe Disease? Pompe disease is one of a family ...

• Acid maltase deficiency Symptoms and Causes

Acid maltase deficiency Symptoms and Causes: causes - Acid maltase deficiency (AMD) is caused by mutations in a gene called acid alpha-glucosidase, or GAA. Normally, this gene makes a protein called the acid alpha ...

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★リンクテーブル★

リンク元	「マルターゼ欠損症」
拡張検索	「sucrase-isomaltase deficiency」
関連記事	「deficiency」「maltase」

「マルターゼ欠損症」

　　[★]

英

maltase deficiency

関

マルターゼ

「sucrase-isomaltase deficiency」

　　[★] スクラーゼ・ソマルターゼ欠損症

「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

　

「maltase」

　　[★] マルターゼ

関

alpha-glucosidase