二塩基性アミノ酸尿症I型
WordNet
- write by means of a keyboard with types; "type the acceptance letter, please" (同)typewrite
- a small metal block bearing a raised character on one end; produces a printed character when inked and pressed on paper; "he dropped a case of type, so they made him pick them up"
- (biology) the taxonomic group whose characteristics are used to define the next higher taxon
- a subdivision of a particular kind of thing; "what type of sculpture do you prefer?"
- all of the tokens of the same symbol; "the word `element contains five different types of character"
- printed characters; "small type is hard to read"
- identify as belonging to a certain type; "Such people can practically be typed" (同)typecast
- the 9th letter of the Roman alphabet (同)i
- writing done with a typewriter (同)typewriting
- abnormal presence of amino acids in the urine; usually a symptom of metabolic defects
PrepTutorEJDIC
- 〈C〉(…の)『型』,タイプ,類型,種類(kind)《+of+名》 / 〈C〉(その種類の特質を最もよく表している)『典型』,手本,模範《+of+名》 / 〈U〉《集合的に》活字;〈C〉(1個の)活字 / 〈U〉(印刷された)字体,活字 / 〈C〉(貨幣・メダルなどの)模様,図柄 / 〈C〉血液型(blood group) / …‘を'タイプに打つ / (…として)…‘を'分類する《+名+as+名(doing)》 / …‘の'型を決める / タイプライターを打つ
- 『私は』私が
- iodineの化学記号
UpToDate Contents
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English Journal
- Digenic Inheritance in Cystinuria Mouse Model.
- Espino M1, Font-Llitjós M2, Vilches C1, Salido E3, Prat E1, López de Heredia M2, Palacín M4, Nunes V5.
- PloS one.PLoS One.2015 Sep 11;10(9):e0137277. doi: 10.1371/journal.pone.0137277. eCollection 2015.
- Cystinuria is an aminoaciduria caused by mutations in the genes that encode the two subunits of the amino acid transport system b0,+, responsible for the renal reabsorption of cystine and dibasic amino acids. The clinical symptoms of cystinuria relate to nephrolithiasis, due to the precipitation of
- PMID 26359869
- An animal model of type A cystinuria due to spontaneous mutation in 129S2/SvPasCrl mice.
- Livrozet M1, Vandermeersch S1, Mesnard L2, Thioulouse E3, Jaubert J4, Boffa JJ5, Haymann JP6, Baud L6, Bazin D7, Daudon M6, Letavernier E6.
- PloS one.PLoS One.2014 Jul 21;9(7):e102700. doi: 10.1371/journal.pone.0102700. eCollection 2014.
- Cystinuria is an autosomal recessive disease caused by the mutation of either SLC3A1 gene encoding for rBAT (type A cystinuria) or SLC7A9 gene encoding for b0,+AT (type B cystinuria). Here, we evidenced in a commonly used congenic 129S2/SvPasCrl mouse substrain a dramatically high frequency of kidne
- PMID 25048459
- Clinical, biochemical, molecular and therapeutic aspects of 2 new cases of 2-aminoadipic semialdehyde synthase deficiency.
- Tondo M1, Calpena E, Arriola G, Sanz P, Martorell L, Ormazabal A, Castejon E, Palacin M, Ugarte M, Espinos C, Perez B, Perez-Dueñas B, Pérez-Cerda C, Artuch R.
- Molecular genetics and metabolism.Mol Genet Metab.2013 Nov;110(3):231-6. doi: 10.1016/j.ymgme.2013.06.021. Epub 2013 Jul 6.
- Our aim was to report two new cases of hyperlysinemia type I describing the clinical, biochemical and molecular features of the disease and the outcome of lysine restriction. Two children presented with febrile seizures followed by developmental delay, clumsiness and epilepsy. At age 2 and 8 years a
- PMID 23890588
Related Links
- Dibasic aminoaciduria type 1 symptoms, causes, diagnosis, and treatment information for Dibasic aminoaciduria type 1 (Dibasic aminoaciduria type 1) with alternative diagnoses, full-text book chapters, misdiagnosis, research ...
- Dibasic aminoaciduria type 1 information including symptoms, diagnosis, misdiagnosis, treatment, causes, patient stories, videos, forums, prevention, and prognosis. ... Dibasic aminoaciduria type 1: Introduction Dibasic ...
★リンクテーブル★
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- 英
- dibasic aminoaciduria type I
- 関
- 二塩基性アミノ酸尿症
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高二塩基性アミノ酸尿症II型
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- (windows)ファイル内容表示(linux -> cat])
- ex. type report_20111118.jp.htm | php a.php > report_20111118.jp.jp.jp.html
- 関
- form、mode、pattern、type specimen、typed
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- 関
- form、mode、pattern、type
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