古典的21-水酸化酵素欠損症
WordNet
- elegance in dress or behavior; "she has a lot of class"
- a collection of things sharing a common attribute; "there are two classes of detergents" (同)category, family
- a league ranked by quality; "he played baseball in class D for two years"; "Princeton is in the NCAA Division 1-AA" (同)division
- a body of students who are taught together; "early morning classes are always sleepy" (同)form, grade, course
- people having the same social, economic, or educational status; "the working class"; "an emerging professional class" (同)stratum, social_class, socio-economic class
- a body of students who graduate together; "the class of 97"; "she was in my year at Hoehandle High" (同)year
- (biology) a taxonomic group containing one or more orders
- a creation of the highest excellence
- an artist who has created classic works
- study of the literary works of ancient Greece and Rome
PrepTutorEJDIC
- 〈C〉(何らかの類似性を持つ)(…の)『種類』,類(sort, kind)《+『of』+『名』》 / 〈C〉《集合的に》《単数扱い》『クラス』,学級,組 / 〈U〉〈C〉(クラス単位の)『授業』;授業時間 / 〈C〉《米》《集合的に》(主に高校・大学の)同期生 / 〈C〉《しばしば複数形で》(同程度の教育・経済力・社会的地位などを持つ)『階級』,階層 / 〈C〉(交通機関などの)『等級』 / 〈C〉(英国の大学の)試験の合格等級 / 〈C〉綱(こう)(動植物の分類で門(phylum, division)と目(もく)(order)の間) / 〈U〉《話》(その人の社会的地位を高く見せる)風格 / …'を'(…の)部類に入れる《+『名』+『among』(『with』)+『名』》,(…として)…'を'分類する《+『名』+『as』+『名』》
- (一つの分野の中で)『規範となる』,典型的な;第1級の / 伝統的な,由緒のある(traditional) / (型・様式などについて)単純で洗練された / 古典の;古典的な(classical) / 〈C〉(一つの分野の中で)『規範』(『模範』)『となる作品』,代表作 / 〈C〉代表的芸術家,古典的作家 / 《the classics》《しばしばC-》古典文学 / 〈C〉伝統的な(由緒ある)行事
- 〈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
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English Journal
- Management considerations for the adult with congenital adrenal hyperplasia.
- Auchus RJ1.
- Molecular and cellular endocrinology.Mol Cell Endocrinol.2015 Jun 15;408:190-197. doi: 10.1016/j.mce.2015.01.039. Epub 2015 Jan 30.
- The congenital adrenal hyperplasias (CAH) are a group of genetic defects in cortisol biosynthesis, most commonly steroid 21-hydroxylase deficiency (21OHD). With the advent of cortisone therapy in the 1960s and newborn screening in the 1990s, most children with 21OHD now reach adulthood. The needs an
- PMID 25643980
- Profiles of 21-Carbon Steroids in 21-hydroxylase Deficiency.
- Turcu AF1, Rege J, Chomic R, Liu J, Nishimoto HK, Else T, Moraitis AG, Palapattu GS, Rainey WE, Auchus RJ.
- The Journal of clinical endocrinology and metabolism.J Clin Endocrinol Metab.2015 Apr 7:jc20151023. [Epub ahead of print]
- CONTEXT: Marked elevations of 17-hydroxyprogesterone (17OHP) are characteristic of classic 21-hydroxylase deficiency (21OHD). Testing of 17OHP provides the basis for 21OHD diagnosis, although it suffers from several pitfalls. False-positive or false-negative results and poor discrimination of noncla
- PMID 25850025
- The classic and nonclassic concenital adrenal hyperplasias.
- Auchus RJ.
- Endocrine practice : official journal of the American College of Endocrinology and the American Association of Clinical Endocrinologists.Endocr Pract.2015 Apr 2;21(4):383-9. doi: 10.4158/EP14474.RA. Epub 2014 Dec 22.
- OBJECTIVE: The American Association of Clinical Endocrinologists Adrenal Scientific Committee has developed a series of articles to update members on the genetics of adrenal diseases.METHODS: Case presentation, discussion of literature, table, and bullet point conclusions.RESULTS: The congenital adr
- PMID 25536973
Japanese Journal
- 古典型21-水酸化酵素欠損症 (特集 小児内分泌疾患の診断と治療 : 日本と世界の異同から考える今後の展望)
- Nonclassic Steroid 21-Hydroxylase Deficiency due to a Homozygous V281L Mutation in CYP21A2 Detected by the Neonatal Mass-Screening Program in Japan
- , , , , ,
- Endocrine Journal 54(6), 1021-1025, 2007
- … The mass screening has detected not only the patients with the classic form of steroid 21-hydroxylase deficiency (21-OHD), but also those with the nonclassic (NC) form of 21-OHD, and the molecular basis in these patients has been elucidated. …
- NAID 130004443329
- False Negatives at Neonatal Screening for Congenital Adrenal Hyperplasia in Two Siblings with 21 -Hydroxylase Deficiency.
- , , ,
- Endocrine Journal 45(3), 427-430, 1998
- … We report on two siblings with classic simple virilizing 21-hydroxylase deficiency whose neonatal screening for serum 17α-hydroxyprogesterone (17-OHP) gave normal results. … Although the occurrence of false-negative cases is extremely rare, it can happen in a simple virilizing form of 21-hydroxylase deficiency. …
- NAID 130003420827
Related Links
- The classic forms of 21-hydroxylase deficiency occur in 1 in 15,000 newborns. The prevalence of the non-classic form of 21-hydroxylase deficiency is estimated to be 1 in 1,000 individuals. The prevalence of both classic ...
- Merke DP, Bornstein SR. Congenital adrenal hyperplasia. Lancet 2005; 365:2125. Speiser PW, Azziz R, Baskin LS, et al. Congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency: an Endocrine Society clinical ...
★リンクテーブル★
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- 英
- classic 21-hydroxylase deficiency
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非古典的21-水酸化酵素欠損症
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- 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
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- 関
- assortment、branch、categorization、categorize、category、classification、classifier、classify、department、division、group、grouping、kind、pattern、section、sector、sort、systematization、typing
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- 関
- classical、classically、traditional、traditionally