18-hydroxylase deficiency

18-水酸化酵素欠損症

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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

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• 1. 成人における21－ヒドロキシラーゼ欠損症による古典的な先天性副腎皮質過形成の治療 treatment of classic congenital adrenal hyperplasia due to 21 hydroxylase deficiency in adults
• 2. 21－ヒドロキシラーゼ欠損症による古典的先天性副腎皮質過形成の遺伝学および臨床症状 genetics and clinical presentation of classic congenital adrenal hyperplasia due to 21 hydroxylase deficiency
• 3. フェニルケトン尿症の概要 overview of phenylketonuria
• 4. 幼児および小児における 21-ヒドロキシラーゼ欠損症による典型的な先天性副腎皮質過形成の治療 treatment of classic congenital adrenal hyperplasia due to 21 hydroxylase deficiency in infants and children
• 5. 21－ヒドロキシラーゼ欠損症による非古典的（遅発性）先天性副腎皮質過形成の診断および治療 diagnosis and treatment of nonclassic late onset congenital adrenal hyperplasia due to 21 hydroxylase deficiency

English Journal

• Corticosterone Methyl Oxidase Deficiency Type 1 with Normokalemia in an Infant.

• Üstyol A1, Atabek ME, Taylor N, Yeung MC, Chan AO.
• Journal of clinical research in pediatric endocrinology.J Clin Res Pediatr Endocrinol.2016 Sep 1;8(3):356-9. doi: 10.4274/jcrpe.2824. Epub 2016 Apr 29.
• PMID 27125267

• Mechanisms of renal control of potassium homeostasis in complete aldosterone deficiency.

• Todkar A1, Picard N2, Loffing-Cueni D2, Sorensen MV2, Mihailova M3, Nesterov V4, Makhanova N5, Korbmacher C4, Wagner CA6, Loffing J7.
• Journal of the American Society of Nephrology : JASN.J Am Soc Nephrol.2015 Feb;26(2):425-38. doi: 10.1681/ASN.2013111156. Epub 2014 Jul 28.
• PMID 25071088

• X-linked adrenal hypoplasia congenita: a case report and ethical dilemma.

• Ismail HM1, Rincon M2.
• Endocrine practice : official journal of the American College of Endocrinology and the American Association of Clinical Endocrinologists.Endocr Pract.2014 Jul;20(7):e126-9. doi: 10.4158/EP14033.CR.
• PMID 24641931

Related Links

• 18 Hydroxylase deficiency | Disease | Overview | Office of ...

Your Questions Answered by the Genetic and Rare Diseases Information Center Please contact us with your questions about 18 Hydroxylase deficiency. We will answer your question and update these pages with new ...

• 18-Hydroxylase deficiency - RightDiagnosis.com

18-Hydroxylase deficiency symptoms, causes, diagnosis, and treatment information for 18-Hydroxylase deficiency (18-Hydroxylase deficiency) with alternative diagnoses, full-text book chapters, misdiagnosis, research treatments ...

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★リンクテーブル★

リンク元	「18-水酸化酵素欠損症」
関連記事	「deficiency」

「18-水酸化酵素欠損症」

　　[★]

英

18-hydroxylase deficiency

「deficiency」

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• 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