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出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2013/08/12 16:44:31」(JST)
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- 1. ペルオキシソーム病 peroxisomal disorders
- 2. 致死的骨格形成異常の出生前診断 prenatal diagnosis of the lethal skeletal dysplasias
- 3. 頭蓋顔面異常を伴う症候群 syndromes with craniofacial abnormalities
- 4. 遺伝性皮膚症 the genodermatoses
- 5. 高カルシウム血症の原因 etiology of hypercalcemia
English Journal
- The importance of ether-phospholipids: A view from the perspective of mouse models.
- da Silva TF, Sousa VF, Malheiro AR, Brites P.SourceNerve Regeneration Group, Instituto de Biologia Molecular e Celular, Porto, Portugal; Instituto de Ciências Biomédicas Abel Salazar, University of Porto, Porto, Portugal.
- Biochimica et biophysica acta.Biochim Biophys Acta.2012 Sep;1822(9):1501-8. Epub 2012 May 31.
- Ether-phospholipids represent an important group of phospholipids characterized by an alkyl or an alkenyl bond at the sn-1 position of the glycerol backbone. Plasmalogens are the most abundant form of alkenyl-glycerophospholipids, and their synthesis requires functional peroxisomes. Defects in the b
- PMID 22659211
- Functions of plasmalogen lipids in health and disease.
- Braverman NE, Moser AB.SourceDepartment of Human Genetics and Pediatrics, McGill University-Montreal Childrens Hospital Research Institute, 4060 Ste-Catherine West, PT-406.2, Montreal, QC, Canada H3Z 2Z3.
- Biochimica et biophysica acta.Biochim Biophys Acta.2012 Sep;1822(9):1442-52. Epub 2012 May 22.
- Plasmalogens are a unique class of membrane glycerophospholipids containing a fatty alcohol with a vinyl-ether bond at the sn-1 position, and enriched in polyunsaturated fatty acids at the sn-2 position of the glycerol backbone. These two features provide novel properties to these compounds. Althoug
- PMID 22627108
Japanese Journal
- 生後より鼻閉,呼吸困難を呈した男児 (特集 症例に学ぶ--小児放射線カンファレンス) -- (頭頸部)
- 丹羽 徹
- 小児科診療 74(11), 1619-1623, 2011-11
- NAID 40019029331
- X-linked chondorodysplasia punctata (Conradi-Hunermann-Happle type) の1女児例
- 船田 裕昭,美野 陽一,堂本 友恒,中川 ふみ,三浦 真澄,辻 靖博,長田 郁夫,神崎 晋
- 日本周産期・新生児医学会雑誌 = Journal of Japan Society of Perinatal and Neonatal Medicine 44(3), 755-760, 2008-08-20
- NAID 10023969511
Related Links
- Chondrodysplasia punctata is a clinically and genetically diverse group of rare diseases, first described by Conradi, that share the features of stippled epiphyses and skeletal changes. :500 :549. Types include: Rhizomelic chondrodysplasia ...
- X-linked dominant chondrodysplasia punctata, (CDPX2 – MIM 302960) also known as Conradi-. Hünermann-Happle syndrome, is a rare form of skeletal dysplasia that affects the skeleton producing short stature, asymmetric shortening of the ...
Related Pictures
★リンクテーブル★
| リンク元 | 「点状軟骨異形成症」「Conradi-Hunermann syndrome」「斑点状骨端症」 |
| 拡張検索 | 「rhizomelic chondrodysplasia punctata」「chondrodysplasia punctata syndrome dominant type」 |
| 関連記事 | 「chondrodysplasia」 |
「点状軟骨異形成症」
「Conradi-Hunermann syndrome」
コンラーディ・ヒューネルマン症候群、Conradi-Hunermann症候群
「斑点状骨端症」
「rhizomelic chondrodysplasia punctata」
- 同
- RCDP
「chondrodysplasia punctata syndrome dominant type」
「chondrodysplasia」
- 関
- Skeletal dysplasia