desmolase deficiency

17,20-リアーゼ欠損症。デスモラーゼ欠損症

PrepTutorEJDIC

1. 〈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

UpToDate Contents

全文を閲覧するには購読必要です。 To read the full text you will need to subscribe.

• 1. 副腎酵素阻害剤および抗アドレナリン薬の薬理および毒性 pharmacology and toxicity of adrenal enzyme inhibitors and adrenolytic agents
• 2. クッシング症候群の原因および病態生理 causes and pathophysiology of cushings syndrome
• 3. 副腎皮質機能亢進症の内科的治療（クッシング症候群） medical therapy of hypercortisolism cushings syndrome

English Journal

• Metabolism of β-valine via a CoA-dependent ammonia lyase pathway.

• Otzen M1, Crismaru CG1, Postema CP1, Wijma HJ1, Heberling MM1, Szymanski W1, de Wildeman S2,3, Janssen DB4.
• Applied microbiology and biotechnology.Appl Microbiol Biotechnol.2015 Nov;99(21):8987-98. doi: 10.1007/s00253-015-6551-z. Epub 2015 May 26.
• Pseudomonas species strain SBV1 can rapidly grow on medium containing β-valine as a sole nitrogen source. The tertiary amine feature of β-valine prevents direct deamination reactions catalyzed by aminotransferases, amino acid dehydrogenases, and amino acid oxidases. However, lyase- or aminomutase-
• PMID 26004802

• Omenn syndrome associated with a functional reversion due to a somatic second-site mutation in CARD11 deficiency.

• Fuchs S1, Rensing-Ehl A2, Pannicke U3, Lorenz MR3, Fisch P4, Jeelall Y5, Rohr J6, Speckmann C6, Vraetz T7, Farmand S8, Schmitt-Graeff A4, Krüger M7, Strahm B7, Henneke P6, Enders A5, Horikawa K5, Goodnow C5, Schwarz K9, Ehl S6.
• Blood.Blood.2015 Oct 1;126(14):1658-69. doi: 10.1182/blood-2015-03-631374. Epub 2015 Aug 19.
• Omenn syndrome (OS) is a severe immunodeficiency associated with erythroderma, lymphoproliferation, elevated IgE, and hyperactive oligoclonal T cells. A restricted T-cell repertoire caused by defective thymic T-cell development and selection, lymphopenia with homeostatic proliferation, and lack of r
• PMID 26289640

• Complement C3-Deficient Mice Fail to Display Age-Related Hippocampal Decline.

• Shi Q1, Colodner KJ2, Matousek SB1, Merry K2, Hong S2, Kenison JE1, Frost JL1, Le KX1, Li S1, Dodart JC3, Caldarone BJ3, Stevens B2, Lemere CA4.
• The Journal of neuroscience : the official journal of the Society for Neuroscience.J Neurosci.2015 Sep 23;35(38):13029-42. doi: 10.1523/JNEUROSCI.1698-15.2015.
• The complement system is part of the innate immune response responsible for removing pathogens and cellular debris, in addition to helping to refine CNS neuronal connections via microglia-mediated pruning of inappropriate synapses during brain development. However, less is known about the role of co
• PMID 26400934

Japanese Journal

• 17,20-Desmolase欠損症によると思われる男性仮性半陰陽の1例

• 野村 浩史,山本 稔彦,小塚 良允,谷口 晴記,豊田 長康,山脇 孝晴,中 淳,西山 真人,杉山 陽一
• 日本産科婦人科學會雜誌 40(2), 259-262, 1988
• NAID 110002112943

Related Links

• 17-20 desmolase deficiency: Introduction - Right Diagnosis

17-20 desmolase deficiency information including symptoms, diagnosis, misdiagnosis, treatment, causes, patient stories, videos, forums, prevention, and prognosis. ... 17-20 desmolase deficiency: Introduction 17-20 desmolase ...

• 20,22-desmolase deficiency | definition of 20,22-desmolase ...

20,22-desmolase deficiency Congenital adrenal hyperplasia, type I (OMIM:201710); both terms continue to be used. The term P-450scc deficiency is also popular, given that conversion of cholesterol to pregnenolone requires 20 ...

---

★リンクテーブル★

リンク元	「17,20-リアーゼ欠損症」
関連記事	「deficiency」「desmolase」

「17,20-リアーゼ欠損症」

　　[★]

英

17,20-lyase deficiency

同

デスモラーゼ欠損症 desmolase deficiency

「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

　

「desmolase」

　　[★]

デスモラーゼ

関

lyase