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- 〈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. ホスホグリセリン酸キナーゼ欠損症およびホスホグリセリン酸ムターゼ欠損症 phosphoglycerate kinase deficiency and phosphoglycerate mutase deficiency
- 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. 先天性赤血球増多症および真性多血症の分子学的病因 molecular pathogenesis of congenital polycythemic disorders and polycythemia vera
- 4. 正常ヒトヘモグロビンの構造および機能 structure and function of normal human hemoglobins
- 5. 鎌状ヘモグロビン多量体：構造と機能特性 sickle hemoglobin polymer structure and functional properties
English Journal
- Placental expression of 2,3 bisphosphoglycerate mutase in IGF-II knock out mouse: correlation of circulating maternal 2,3 bisphosphoglycerate and fetal growth.
- Gu M1, Pritlove DC, Boyd CA, Vatish M.
- Placenta.Placenta.2009 Oct;30(10):919-22. doi: 10.1016/j.placenta.2009.08.005. Epub 2009 Sep 6.
- Bisphosphoglycerate mutase (BPGM) catalyses the formation of 2,3 bisphosphoglycerate (BPG) a ligand of haemoglobin. BPG facilitates liberation of oxygen from haemoglobin at low oxygen tension enabling efficient delivery of oxygen to tissues. We describe expression of BPGM in mouse labyrinthine troph
- PMID 19733906
- Red cell glycolytic enzyme disorders caused by mutations: an update.
- Climent F1, Roset F, Repiso A, Pérez de la Ossa P.
- Cardiovascular & hematological disorders drug targets.Cardiovasc Hematol Disord Drug Targets.2009 Jun;9(2):95-106.
- Glycolysis is one of the principle pathways of ATP generation in cells and is present in all cell tissues; in erythrocytes, glycolysis is the only pathway for ATP synthesis since mature red cells lack the internal structures necessary to produce the energy vital for life. Red cell deficiencies have
- PMID 19519368
- Congenital and acquired polycythemias.
- Siegel FP1, Petrides PE.
- Deutsches Ärzteblatt international.Dtsch Arztebl Int.2008 Jan;105(4):62-8. doi: 10.3238/arztebl.2008.0062. Epub 2008 Jan 25.
- INTRODUCTION: Polycythemias are characterized by an increased concentration of red blood cells. Because blood cell counts are a routine investigation, these disorders present to non-hematologic physicians. Polycythemia vera (PV), an acquired stem cell disease, is the most important variant.METHODS:
- PMID 19633771
Related Links
- Clinical Synopsis TEXT A number sign (#) is used with this entry because erythrocyte bisphosphoglycerate mutase deficiency can be caused by compound heterozygous mutation in the BPGM gene (613896), which encodes a ...
- Study of a kindred with partial deficiency of red cell 2,3-diphosphoglycerate mutase (2,3-DPGM) and compensated hemolysis. Blood. 1978 Jun; 51(6):1107-16. [Blood. 1978] [Diphosphoglyceromutase deficiency: new cases ...
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★リンクテーブル★
| リンク元 | 「ジホスホグリセリン酸ムターゼ欠損症」 |
| 関連記事 | 「deficiency」「mutase」「diphosphoglycerate mutase」「diphosphoglycerate」 |
「ジホスホグリセリン酸ムターゼ欠損症」
- 英
- diphosphoglycerate mutase deficiency
- 同
- DPGムターゼ欠損症 DPG mutase deficiency、ジホスホグリセリン酸ホスファターゼ欠損症 diphosphoglycerate phosphatase deficiency
「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