WordNet
- abnormal presence of amino acids in the urine; usually a symptom of metabolic defects
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- 1. 遺伝性運動失調の概要 overview of the hereditary ataxias
- 2. ミトコンドリアミオパシー：臨床的特徴および診断 mitochondrial myopathies clinical features and diagnosis
- 3. グリコーゲン代謝のその他の障害：GLUT2欠損症およびアルドラーゼA欠損症 other disorders of glycogen metabolism glut2 deficiency and aldolase a deficiency
- 4. シスチン蓄積症 cystinosis
- 5. 幼児および小児における低血糖症の病因 etiology of hypoglycemia in infants and children
English Journal
- Dysfunction in macrophage toll-like receptor signaling caused by an inborn error of cationic amino acid transport.
- Kurko J1, Vähä-Mäkilä M2, Tringham M3, Tanner L4, Paavanen-Huhtala S5, Saarinen M6, Näntö-Salonen K7, Simell O8, Niinikoski H9, Mykkänen J10.
- Molecular immunology.Mol Immunol.2015 Oct;67(2 Pt B):416-25. doi: 10.1016/j.molimm.2015.07.006. Epub 2015 Jul 22.
- Amino acids, especially arginine, are vital for the well-being and activity of immune cells, and disruption of amino acid balance may weaken immunity and predispose to infectious and autoimmune diseases. We present here a model of an inborn aminoaciduria, lysinuric protein intolerance (LPI), in whic
- PMID 26210182
- Prognostic Factors and Long-Term Outcome in 52 Turkish Children With Hemophagocytic Lymphohistiocytosis.
- Kaya Z1, Bay A, Albayrak M, Kocak U, Yenicesu I, Gursel T.
- Pediatric critical care medicine : a journal of the Society of Critical Care Medicine and the World Federation of Pediatric Intensive and Critical Care Societies.Pediatr Crit Care Med.2015 Jul;16(6):e165-73. doi: 10.1097/PCC.0000000000000449.
- OBJECTIVES: Hemophagocytic lymphohistiocytosis is a syndrome of pathologic immune activation that shares similar clinical and laboratory phenotypes with severe sepsis. Recent studies led to better recognition of hemophagocytic lymphohistiocytosis by clinicians, but no consensus exists on the criteri
- PMID 25901543
- Urine Beta2-Microglobulin Is an Early Marker of Renal Involvement in LPI.
- Kärki M1, Näntö-Salonen K, Niinikoski H, Tanner LM.
- JIMD reports.JIMD Rep.2015 Jun 30. [Epub ahead of print]
- OBJECTIVE: Lysinuric protein intolerance (LPI) is a rare autosomal recessive disorder affecting the transport of cationic amino acids. It has previously been shown that approximately one third of the Finnish LPI patients have impaired renal function. The aim of this study was to analyse in detail ur
- PMID 26122628
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★リンクテーブル★
| リンク元 | 「高二塩基性アミノ酸尿症」 |
| 拡張検索 | 「hyperdibasic aminoaciduria type II」 |