- 関
- uroporphyrinogen III synthase
- 同
- UROS
WordNet
- the 9th letter of the Roman alphabet (同)i
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
- 『私は』私が
- iodineの化学記号
UpToDate Contents
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English Journal
- X-linked dominant protoporphyria: a new porphyria.
- Seager MJ, Whatley SD, Anstey AV, Millard TP.SourceDepartment of Dermatology, Gloucestershire Royal Hospital, Gloucester, UK.
- Clinical and experimental dermatology.Clin Exp Dermatol.2013 Oct 17. doi: 10.1111/ced.12202. [Epub ahead of print]
- X-linked dominant protoporphyria (XLDPP) was first reported in the genetics literature in 2008. It has a phenotype very similar to erythropoietic protoporphyria (EPP), but is distinguished from EPP by higher concentrations of erythrocyte protoporphyrin (of which a high proportion is zinc-chelated),
- PMID 24131146
- Manifestations and treatment of the hand in adult congenital erythropoietic porphyria.
- Fostvedt S, Bruinsma WE, Neuhaus V, Stone JH, Mudgal CS.SourceFrom the *Orthopaedic Hand Service and †Division of Rheumatology, Allergy & Immunology, Massachusetts General Hospital, Boston, MA.
- Journal of clinical rheumatology : practical reports on rheumatic & musculoskeletal diseases.J Clin Rheumatol.2013 Oct;19(7):402-4. doi: 10.1097/RHU.0b013e3182a70073.
- Congenital erythropoietic porphyria (CEP) is a rare enzymatic disorder of heme metabolism, leading to the accumulation of porphyrins in the skin and subdermal structures. We present the case of a 34-year-old, right-hand-dominant, male patient with CEP. The patient had developed a chronic open sublux
- PMID 24048109
- A Case of Congenital Erythropoietic Porphyria without Hemolysis.
- De AK, Das K, Sil A, Joardar S.SourceDepartment of Pediatric Medicine, Medical College, Kolkata, India.
- Indian journal of dermatology.Indian J Dermatol.2013 Sep;58(5):407. doi: 10.4103/0019-5154.117336.
- Porphyrias are group of disorders caused by deficiency of the enzymes in heme synthetic pathway. Congenital erythropoietic porphyria (CEP) is an extremely rare disease with mutation in the gene that codes for uroporphyrinogen III synthase leading to accumulation of porphyrin in different tissues and
- PMID 24082206
Japanese Journal
- 亀好 良一,田中 稔彦,檜原 理子,柳田 明伸,山本 昇壯,神安 雅哉,水野 正晴,近藤 雅雄
- 西日本皮膚科 61(2), 163-167, 1999
- 54歳の男性。先天性骨髄性ポルフィリン症の症例を報告した。両親はいとこ結婚。8歳頃より顔·手など露出部に水疱·糜爛·潰瘍·瘢痕形成を繰り返すようになり, また赤色尿も出現した。その後, 露出部の色素沈着·色素脱失, 多毛, 皮膚脆弱化が顕著となり, また, 耳介·手指末梢の変形, 眼球強膜病変も伴ってきた。神経症状·腹部症状の既往はないが, 数年前より軽度肝機能障害を指摘されていた。これまで特に加 …
- NAID 130004474511
Related Links
- Uroporphyrinogen III synthase deficiency information including symptoms, causes, diseases, symptoms, treatments, and other medical and health issues. ... Introduction: Uroporphyrinogen III synthase deficiency Description of ...
- 263700 - PORPHYRIA, CONGENITAL ERYTHROPOIETIC - CEP;; GUNTHER DISEASE;; UROPORPHYRINOGEN III SYNTHASE DEFICIENCY;; UROS DEFICIENCY ... NOTE: OMIM is intended for use primarily by physicians and ...
★リンクテーブル★
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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
- lyase、synthetase、transferase
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ウロ・ルフィリノーゲン
- 同
- uroporphyrinogens