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- certificate of deposit / (また『C.D.』)Civil Defense民間防衛
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- 1. 先天性代謝異常：分類 inborn errors of metabolism classification
English Journal
- TMEM199 Deficiency Is a Disorder of Golgi Homeostasis Characterized by Elevated Aminotransferases, Alkaline Phosphatase, and Cholesterol and Abnormal Glycosylation.
- Jansen JC1, Timal S2, van Scherpenzeel M2, Michelakakis H3, Vicogne D4, Ashikov A2, Moraitou M3, Hoischen A5, Huijben K6, Steenbergen G6, van den Boogert MA7, Porta F8, Calvo PL8, Mavrikou M9, Cenacchi G10, van den Bogaart G11, Salomon J12, Holleboom AG7, Rodenburg RJ13, Drenth JP12, Huynen MA14, Wevers RA6, Morava E15, Foulquier F4, Veltman JA16, Lefeber DJ17.
- American journal of human genetics.Am J Hum Genet.2016 Jan 27. pii: S0002-9297(15)00506-6. doi: 10.1016/j.ajhg.2015.12.011. [Epub ahead of print]
- Congenital disorders of glycosylation (CDGs) form a genetically and clinically heterogeneous group of diseases with aberrant protein glycosylation as a hallmark. A subgroup of CDGs can be attributed to disturbed Golgi homeostasis. However, identification of pathogenic variants is seriously complicat
- PMID 26833330
- Mitotic Intragenic Recombination: A Mechanism of Survival for Several Congenital Disorders of Glycosylation.
- Kane MS1, Davids M2, Adams C2, Wolfe LA3, Cheung HW2, Gropman A4, Huang Y2; NISC Comparative Sequencing Program, Ng BG5, Freeze HH5, Adams DR2, Gahl WA6, Boerkoel CF7.
- American journal of human genetics.Am J Hum Genet.2016 Jan 19. pii: S0002-9297(15)00502-9. doi: 10.1016/j.ajhg.2015.12.007. [Epub ahead of print]
- Congenital disorders of glycosylation (CDGs) are disorders of abnormal protein glycosylation that affect multiple organ systems. Because most CDGs have been described in only a few individuals, our understanding of the associated phenotypes and the mechanisms of individual survival are limited. In t
- PMID 26805780
- Electroclinical Features of Early-Onset Epileptic Encephalopathies in Congenital Disorders of Glycosylation (CDGs).
- Fiumara A1, Barone R2,3, Del Campo G4, Striano P5, Jaeken J6.
- JIMD reports.JIMD Rep.2015 Oct 10. [Epub ahead of print]
- Congenital disorders of glycosylation (CDG) are a constantly growing group of genetic defects of glycoprotein and glycolipid glycan synthesis. CDGs are usually multisystem diseases, and in the majority of patients, there is an important neurological involvement comprising psychomotor disability, hyp
- PMID 26453362
Japanese Journal
- Histopathologic and Immunohistochemical Characterization of Human Gastric Oxyntic Mucosa with Parietal Cell Protrusions and Investigation into the Association Between Such Mucosal Changes of the Stomach and Use of Proton Pump Inhibitors
- Journal of St. Marianna University 6(2), 119-130, 2015
- NAID 130005114680
- 測定学から見た真空計測の基礎 (4) 真空計の長期安定性
- Journal of the Vacuum Society of Japan 58(7), 265-271, 2015
- NAID 130005091233
- An Overview of Low Vacuum System for the Pressure Range from 1 Pa to 133 Pa
- Journal of the Vacuum Society of Japan 58(2), 69-71, 2015
- NAID 130004952541
Related Links
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- Cdgs definition at Dictionary.com, a free online dictionary with pronunciation, synonyms and translation. Look it up now! Thesaurus Translate Puzzles & Games Reference Word of the Day Blog Slideshows Apps by Dictionary ...
Related Pictures
★リンクテーブル★
| リンク元 | 「糖鎖不全糖タンパク質症候群」「carbohydrate-deficient glycoprotein syndrome」 |
| 関連記事 | 「CD」「CDG」 |
「糖鎖不全糖タンパク質症候群」
「carbohydrate-deficient glycoprotein syndrome」
- 関
- CDGS
「CD」