ナジャー症候群
WordNet
- a pattern of symptoms indicative of some disease
- a complex of concurrent things; "every word has a syndrome of meanings"
PrepTutorEJDIC
- (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
UpToDate Contents
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English Journal
- Repeated AAV-mediated gene transfer by serotype switching enables long-lasting therapeutic levels of hUgt1a1 enzyme in a mouse model of Crigler-Najjar syndrome type I.
- Bočkor L1, Bortolussi G1, Iaconcig A1, Chiaruttini G1, Tiribelli C2, Giacca M1, Benvenuti F1, Zentilin L1, Muro AF1.
- Gene therapy.Gene Ther.2017 Aug 14. doi: 10.1038/gt.2017.75. [Epub ahead of print]
- PMID 28805798
- Promoterless gene targeting without nucleases rescues lethality of a Crigler-Najjar syndrome mouse model.
- Porro F1, Bortolussi G1, Barzel A2, De Caneva A1, Iaconcig A1, Vodret S1, Zentilin L1, Kay MA2, Muro AF3.
- EMBO molecular medicine.EMBO Mol Med.2017 Jul 27. pii: e201707601. doi: 10.15252/emmm.201707601. [Epub ahead of print]
- PMID 28751579
- Clinical UGT1A1 Genetic Analysis in Pediatric Patients: Experience of a Reference Laboratory.
- Moyer AM1, Skierka JM1, Kotzer KE1, Kluge ML1, Black JL1, Baudhuin LM2.
- Molecular diagnosis & therapy.Mol Diagn Ther.2017 Jun;21(3):327-335. doi: 10.1007/s40291-017-0265-0.
- PMID 28213806
Japanese Journal
- Truncated UDP-glucuronosyltransferase (UGT) from a Crigler–Najjar syndrome type Ⅱ patient colocalizes with intact UGT in the endoplasmic reticulum
- Function, Genetic Polymorphism, and Transcriptional Regulation of Human UDP-glucuronosyltransferase (UGT) 1A1
- A Homozygous Mutation in UGT1A1 Exon 5 May Be Responsible for Persistent Hyperbilirubinemia in a Japanese Girl with Gilbert's Syndrome
Related Links
- Crigler‐Najjar 症候群 Crigler‐Najjar syndrome 「概念」 glucuronyltransferase 酵素活性の欠損。 1型は完全に欠損、2型は10%以下に欠損。 鑑別に、フェノバルビタールによる酵素誘導。 1型では誘導されないが、2型では誘導される。
- Labrune P, Crigler-Najjar syndrome; Orphanet encyclopedia, January 2004. http://www.orpha.net/data/patho/GB/uk-crigler.pdf 4 11. Galbraith RA, Drummond GS, Kappas A. Suppression of bilirubin production in the Crigler-Najjar type ...
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クリグラー・ナジャー症候群
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