WordNet
- a pattern of symptoms indicative of some disease
- a complex of concurrent things; "every word has a syndrome of meanings"
- formed by reaction between an acid and an alcohol with elimination of water
PrepTutorEJDIC
- 〈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
- (疾患の徴候となる一群の)症徴候,症候群 / (事件・社会的状態などのパターンを示す)徴候形態
- エステル(酸とアルコールから水を分離してできる化合物の総称)
UpToDate Contents
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- 1. 小児における原発性副腎不全の原因および臨床症状 causes and clinical manifestations of primary adrenal insufficiency in children
- 2. 水溶性ビタミンの概要 overview of water soluble vitamins
- 3. HDLコレステロール：異常値の臨床的側面 hdl cholesterol clinical aspects of abnormal values
- 4. 抗酸菌易感染性を示すメンデル型遺伝性疾患：特異的な遺伝子異常 mendelian susceptibility to mycobacterial diseases specific defects
- 5. 新生児胆汁うっ滞の原因 causes of neonatal cholestasis
English Journal
- Association of LIPA gene polymorphisms with obesity-related metabolic complications among severely obese patients.
- Guénard F1, Houde A, Bouchard L, Tchernof A, Deshaies Y, Biron S, Lescelleur O, Biertho L, Marceau S, Pérusse L, Vohl MC.
- Obesity (Silver Spring, Md.).Obesity (Silver Spring).2012 Oct;20(10):2075-82. doi: 10.1038/oby.2012.52. Epub 2012 Mar 7.
- The lipase A, lysosomal acid, cholesterol esterase enzyme (LIPA) is involved in the hydrolysis of triglycerides (TGs) and cholesteryl esters (CEs) delivered to lysosomes. LIPA deficiency in human causes two distinct phenotypes characterized by intracellular storage of CE and derangements in the cont
- PMID 22395809
- Combined hyperlipidaemia as a presenting sign of cholesteryl ester storage disease.
- Decarlis S1, Agostoni C, Ferrante F, Scarlino S, Riva E, Giovannini M.
- Journal of inherited metabolic disease.J Inherit Metab Dis.2009 Dec;32 Suppl 1:S11-3. doi: 10.1007/s10545-008-1027-2. Epub 2009 Feb 15.
- Lysosomal acid lipase (LAL) deficiency results in Wolman disease and cholesteryl ester storage disease (CESD), a more benign form. CESD is a recessive disorder characterized by hypercholesterolaemia, hypertriglyceridaemia, low blood HDL and variable phenotype, while hepatomegaly is usually evident d
- PMID 19214773
- Mutations in the CEL VNTR cause a syndrome of diabetes and pancreatic exocrine dysfunction.
- Raeder H1, Johansson S, Holm PI, Haldorsen IS, Mas E, Sbarra V, Nermoen I, Eide SA, Grevle L, Bjørkhaug L, Sagen JV, Aksnes L, Søvik O, Lombardo D, Molven A, Njølstad PR.
- Nature genetics.Nat Genet.2006 Jan;38(1):54-62. Epub 2005 Dec 20.
- Dysfunction of the exocrine pancreas is observed in diabetes, but links between concurrent exocrine and endocrine pancreatic disease and contributing genetic factors are poorly characterized. We studied two families with diabetes and exocrine pancreatic dysfunction by genetic, physiological and in v
- PMID 16369531
Related Links
- Evaluation of urinary cells in acid cholesteryl ester hydrolase deficiency. Clin Genet. 1986 May; 29(5):360-8. [Clin Genet. 1986] Molecular defects underlying Wolman disease appear to be more heterogeneous than ...
- Acid cholesteryl ester hydrolase deficiency, type 2 symptoms, causes, diagnosis, and treatment information for Acid cholesteryl ester hydrolase deficiency, type 2 (Wolman disease) with alternative diagnoses, full-text book chapters ...
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★リンクテーブル★
| リンク元 | 「コレステリルエステル加水分解酵素欠損症候群」 |
| 関連記事 | 「deficiency」「cholesteryl ester」「hydrolase」「hydrolases」「syndrome」 |
「コレステリルエステル加水分解酵素欠損症候群」
「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
「cholesteryl ester」
「hydrolase」
- n.
「hydrolases」
- n.
「syndrome」
- n.