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English Journal
- A phytosterolemia patient presenting exclusively with macrothrombocytopenia and stomatocytic hemolysis.
- Wang G1, Wang Z, Liang J, Cao L, Bai X, Ruan C.
- Acta haematologica.Acta Haematol.2011;126(2):95-8. doi: 10.1159/000327248. Epub 2011 May 12.
- BACKGROUND: Phytosterolemia is a rare autosomal recessive lipid storage disease. It is caused by mutations of ABCG5 and ABCG8 genes and characterized by the increased plasma levels of plant sterols. The common clinical manifestations include tendon and tuberous xanthomas and premature coronary heart
- PMID 21576934
- Molecular physiology and genetics of Na+-independent SLC4 anion exchangers.
- Alper SL1.
- The Journal of experimental biology.J Exp Biol.2009 Jun;212(Pt 11):1672-83. doi: 10.1242/jeb.029454.
- Plasmalemmal Cl(-)/HCO(3)(-) exchangers are encoded by the SLC4 and SLC26 gene superfamilies, and function to regulate intracellular pH, [Cl(-)] and cell volume. The Cl(-)/HCO(3)(-) exchangers of polarized epithelial cells also contribute to transepithelial secretion and reabsorption of acid-base eq
- PMID 19448077
Japanese Journal
- 赤血球膜異常症における膜蛋白の病態に関する研究 : 特に遺伝性楕円赤血球症について
- 神崎 暁郎
- 川崎医学会誌 13(1), 44-61, 1987
- … に分類された.第1はrod shape type(rod型細胞が15%以下の群),第2はnon-rod type(rod型細胞が5%以下の群)で,前者は16例,後者は9例であった.溶血型の多くはnon-rod typeであった.さらに典型的な溶血型では,その楕円赤血球にstomatocytic changeが加わっていた.一方,膜機能Na-influxから溶血型をみると9例中8例に,Na-influxの亢進が認められた.rod型細胞を遠心法により集め,そのrod型細胞のcell ageとNa-influxについて検討した.結果はrod型細胞は,ovalocyteお …
- NAID 110009913146
Related Links
- ... (overhydration), producing varying degrees of hemolysis as well as vasoocclusive manifestations. Some variant stomatocytic disorders are characterized by cell dehydration [1,2]. Prevalence Acquired forms are rare with data 11 ...
- Congenital conditions - blood disorders Congenital conditions Symptoms of Stomatocytic HE (Stomatocytic hereditary elliptocytosis) Some of the symptoms of Stomatocytic HE incude: Mild destruction of red blood cells ...
★リンクテーブル★
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- 障害：個人的苦痛や機能の障害があるので「疾病」とは言えるものの、その背景にある臓器障害がもう一つはっきりしない場合に用いられる。(PSY.9)
- an untidy state; a lack of order or organization (⇔order)
- violent behaviour of large groups of people
- an illness that cause a part of the body to stop functioning correctly
- disease <> illness <> disorder
- 乱す、乱雑にする。(人)の(心身の)調子を狂わせる。