WordNet
- an impairment of health or a condition of abnormal functioning
- caused by or altered by or manifesting disease or pathology; "diseased tonsils"; "a morbid growth"; "pathologic tissue"; "pathological bodily processes" (同)morbid, pathologic, pathological
PrepTutorEJDIC
- (体の)『病気』,疾患 / (精神・道徳などの)病気,病弊
- 女性の話術芸人 =diseur
- 〈U〉〈C〉(…の)(量・額などの)不足,欠乏《+『of』(『in』)+『名』》 / 〈C〉不足分,不足量,不足額 / 〈C〉(精神・肉体などの)欠陥
- 病気にかかった / 病的な,不健全な(morbid)
UpToDate Contents
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- 1. 新生児胆汁うっ滞の原因 causes of neonatal cholestasis
- 2. 免疫不全症を引き起こすミエロペルオキシダーゼ欠損症および酵素白血球欠損症 myeloperoxidase deficiency and other enzymatic wbc defects causing immunodeficiency
- 3. 選択的IgA欠損症：臨床症状、病態生理、および診断 selective iga deficiency clinical manifestations pathophysiology and diagnosis
- 4. 慢性閉塞性肺疾患（COPD）：危険因子およびリスク低減 chronic obstructive pulmonary disease risk factors and risk reduction
- 5. 食物中の微量ミネラルの概要 overview of dietary trace minerals
English Journal
- High proportion of mannosidosis and fucosidosis among lysosomal storage diseases in Cuba.
- Menéndez-Sainz C, González-Quevedo A, González-García S, Peña-Sánchez M, Giugliani R.SourceNeurobiology Department, Institute of Neurology and Neurosurgery, Havana, Cuba. cary@infomed.sld.cu
- Genetics and molecular research : GMR.Genet Mol Res.2012 Aug 13;11(3):2352-9. doi: 10.4238/2012.August.13.9.
- Although lysosomal storage disorders (LSDs) are considered individually rare, as a group they present a non-negligible frequency. Few studies have been made of populational occurrence of LSDs; they have been conducted predominantly on Caucasian populations. We studied the occurrence of LSDs in C
- PMID 22911605
- Lysosomal di-N-acetylchitobiase-deficient mouse tissues accumulate Man2GlcNAc2 and Man3GlcNAc2.
- Persichetti E, Klein K, Paciotti S, Lecointe K, Balducci C, Franken S, Duvet S, Matzner U, Roberti R, Hartmann D, Gieselmann V, Beccari T.SourceUniversity of Perugia, D.S.E.E.A., Institute of Food Chemistry, Biochemistry, Physiology and Nutrition, Italy.
- Biochimica et biophysica acta.Biochim Biophys Acta.2012 Jul;1822(7):1137-46. doi: 10.1016/j.bbadis.2012.03.005. Epub 2012 Mar 20.
- Most lysosomal storage diseases are caused by defects in genes encoding for acidic hydrolases. Deficiency of an enzyme involved in the catabolic pathway of N-linked glycans leads to the accumulation of the respective substrate and consequently to the onset of a specific storage disorder. Di-N-acetyl
- PMID 22465033
- Allogeneic hematopoietic SCT for alpha-mannosidosis: an analysis of 17 patients.
- Mynarek M, Tolar J, Albert MH, Escolar ML, Boelens JJ, Cowan MJ, Finnegan N, Glomstein A, Jacobsohn DA, Kühl JS, Yabe H, Kurtzberg J, Malm D, Orchard PJ, Klein C, Lücke T, Sykora KW.SourceDepartment of Pediatric Hematology and Oncology, Hannover Medical School, Carl-Neuberg-Strasse 1, Hannover, Germany.
- Bone marrow transplantation.Bone Marrow Transplant.2012 Mar;47(3):352-9. doi: 10.1038/bmt.2011.99. Epub 2011 May 9.
- Alpha-mannosidosis is a rare lysosomal storage disease. Hematopoietic SCT (HSCT) is usually recommended as a therapeutic option though reports are anecdotal to date. This retrospective multi institutional analysis describes 17 patients that were diagnosed at a median of 2.5 (1.1-23) years and underw
- PMID 21552297
Japanese Journal
- Biochemical improvement after treatment by bone marrow transplantation in I-cell disease.
- KUROBANE IKUO,INOUE SHIGEO,GOTOH YOH-ICHI,KATO SEIICHI,TAMURA MAKOTO,NARISAWA KUNIAKI,TADA KEIYA
- The Tohoku Journal of Experimental Medicine 150(1), 63-68, 1986
- … Biochemical Improvement after Treatment by Bone Marrow Transplantation in I-Cell Disease. … Med., 1986, 150 (1), 63-68-The first case of successful bone marrow transplantation (BMT) in a patient with I-cell disease is reported. … A 8-month-old girl with I-cell disease (N-acetylglucosaminylphosphotransferase deficiency) has had successful reconstitution with bone marrow from her HLA-MLC-matched brother who has heterozygous level of the transferase activity. …
- NAID 130003493754
Related Links
- The MalaCard for "mannosidase deficiency disease" has been retired. Searching MalaCards for entries containing "mannosidase deficiency disease"
- 英語をクリック → Mannosidase Deficiency Disease との組み合わせでEntrez を検索 アスパルチルグルコサミン尿症 (Aspartylglucosaminuria); ムコリピドーシス (Mucolipidosis); フコシドーシス (Fucosidosis); 骨形成不全 (Dysostosis ); ...
Related Pictures
★リンクテーブル★
| リンク元 | 「mannosidosis」「マンノシダーゼ欠損症」 |
| 関連記事 | 「disease」「deficiency」 |
「mannosidosis」
「マンノシダーゼ欠損症」
「disease」
- n.
- 疾患：illnessより厳密な概念。「ある臓器に明確な障害が確認され、それによって症状が出ているとはっきり説明できる場合」 (PSY.9)
- 特定の原因、病態生理、症状、経過、予後、病理組織所見が全てそろった場合 (PSY.9)
- something that is very wrong with people's attitudes, way of life or with society.
- 注意
「deficiency」
- n.
- 不足、欠乏、欠失、欠如、欠損、不十分。栄養不足、栄養素欠乏、欠乏症。(遺伝子)(染色体内の)遺伝子欠失
- 欠けているもの、不足している物。不足分。不完全なもの、欠点のあるもの
- 関
- absence, agenesis, dearth, defect, defective, deficient, deficit, delete, deletion, deletional, depletion, deprivation, deprive, lack, miss, missing, morphological defect, paucity, scarce, scarcity, starve