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

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. クリグラー・ナジャー症候群 crigler najjar syndrome
2. 新生児における非抱合型高ビリルビン血症の発症機序および病因 pathogenesis and etiology of unconjugated hyperbilirubinemia in the newborn
3. ビリルビン過剰産生によるジルベール症候群および非抱合型ビリルビン過剰産生 gilbert syndrome and unconjugated hyperbilirubinemia due to bilirubin overproduction
4. 小児における非抱合型高ビリルビン血症による黄疸の評価 evaluation of jaundice caused by unconjugated hyperbilirubinemia in children
5. 肝細胞移植 hepatocyte transplantation

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

Journal of human genetics 59(3), 158-162, 2014-03
NAID 40020021302

Function, Genetic Polymorphism, and Transcriptional Regulation of Human UDP-glucuronosyltransferase (UGT) 1A1

Drug Metabolism and Pharmacokinetics 28(2), 83-92, 2013
NAID 130004933533

A Homozygous Mutation in UGT1A1 Exon 5 May Be Responsible for Persistent Hyperbilirubinemia in a Japanese Girl with Gilbert's Syndrome

The Kobe journal of the medical sciences 57(1), 26-31, 2011
NAID 120003290066

Related Links

Crigler‐Najjar syndrome - ネットワーク利用技術研究会

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。

Crigler-Najjar syndrome - Orphanet

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 ...