脱分枝酵素欠損症
WordNet
- any of several complex proteins that are produced by cells and act as catalysts in specific biochemical reactions
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
- 酵素
UpToDate Contents
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English Journal
- Glycogen storage disease type III: A novel Agl knockout mouse model.
- Pagliarani S1, Lucchiari S1, Ulzi G1, Violano R2, Ripolone M2, Bordoni A1, Nizzardo M1, Gatti S3, Corti S1, Moggio M2, Bresolin N1, Comi GP4.
- Biochimica et biophysica acta.Biochim Biophys Acta.2014 Aug 1. pii: S0925-4439(14)00250-6. doi: 10.1016/j.bbadis.2014.07.029. [Epub ahead of print]
- Glycogen storage disease type III is an autosomal recessive disease characterized by a deficiency in the glycogen debranching enzyme, encoded by AGL. Essential features of this disease are hepatomegaly, hypoglycemia, hyperlipidemia, and growth retardation. Progressive skeletal myopathy, neuropathy,
- PMID 25092169
- Role in tumor growth of a glycogen debranching enzyme lost in glycogen storage disease.
- Guin S1, Pollard C1, Ru Y1, Ritterson Lew C1, Duex JE1, Dancik G1, Owens C1, Spencer A1, Knight S1, Holemon H1, Gupta S1, Hansel D1, Hellerstein M1, Lorkiewicz P1, Lane AN1, Fan TW1, Theodorescu D2.
- Journal of the National Cancer Institute.J Natl Cancer Inst.2014 Apr 3;106(5). pii: dju062. doi: 10.1093/jnci/dju062.
- BACKGROUND: Bladder cancer is the most common malignancy of the urinary system, yet our molecular understanding of this disease is incomplete, hampering therapeutic advances.METHODS: Here we used a genome-wide functional short-hairpin RNA (shRNA) screen to identify suppressors of in vivo bladder tum
- PMID 24700805
- Mouse model of glycogen storage disease type III.
- Liu KM1, Wu JY2, Chen YT3.
- Molecular genetics and metabolism.Mol Genet Metab.2014 Apr;111(4):467-76. doi: 10.1016/j.ymgme.2014.02.005. Epub 2014 Feb 18.
- Glycogen storage disease type IIIa (GSD IIIa) is caused by a deficiency of the glycogen debranching enzyme (GDE), which is encoded by the Agl gene. GDE deficiency leads to the pathogenic accumulation of phosphorylase limit dextrin (PLD), an abnormal glycogen, in the liver, heart, and skeletal muscle
- PMID 24613482
Japanese Journal
- Defining the Functions of Maltodextrin Active Enzymes in Starch Metabolism in the Unicellular Alga Chlamydomonas reinhardtii
- A Case of Glycogen Storage Disease Type III (Glycogen Debranching Enzyme Deficiency) with Liver Cirrhosis and Hypertrophic Cardiomyopathy
- Tohoku journal of experimental medicine 176(3), 181-185, 1995-07-01
- NAID 10024502428
- A case of glycogen storage disease type III (glycogen debranching enzyme deficiency) with liver cirrhosis and hypertrophic cardiomyopathy
Related Links
- Therapy and perspectives Therapy is not available for debranching enzyme deficit. To avoid fasting hypoglycaemia in infancy, dietary measures have been prospected. Frequent daytime high-protein feedings (45% carbohydrate, 25% ...
- Glycogen debranching enzyme deficiency information including symptoms, causes, diseases, symptoms, treatments, and other medical and health issues. ... Introduction: Glycogen debranching enzyme deficiency Description of ...
Related Pictures
★リンクテーブル★
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- 英
- debrancher deficiency, debranching enzyme deficiency
- 関
- コリ病、3型糖原貯蔵障害、限界デキストリン症、糖原病III型
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- 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
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脱分枝酵素、枝切り酵素
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酵素欠乏症、酵素欠損症