WordNet
- autosomal recessive defect in tyrosine metabolism resulting in liver and kidney disturbances and mental retardation
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出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2015/03/01 01:39:25」(JST)
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- 1. チロシン代謝障害 disorders of tyrosine metabolism
- 2. 小児における急性肝不全：病因および評価 acute liver failure in children etiology and evaluation
- 3. 先天性代謝異常：個々の障害の発見 inborn errors of metabolism identifying the specific disorder
- 4. 新生児胆汁うっ滞の原因 causes of neonatal cholestasis
- 5. 全身疾患と関連した遺伝性ニューロパチー hereditary neuropathies associated with generalized disorders
English Journal
- Stereotactic Radiofrequency Ablation for Liver Tumors in Inherited Metabolic Disorders.
- Karall D, Scholl-Bürgi S, Widmann G, Albrecht U, Niedermayr K, Maurer K, Ausserer B, Huemer M, Bale R.SourceDepartment of Pediatrics I, Inherited Metabolic Disorders, Medical University of Innsbruck, Anichstrasse 35, 6020, Innsbruck, Austria, daniela.karall@i-med.ac.at.
- Cardiovascular and interventional radiology.Cardiovasc Intervent Radiol.2013 Oct 23. [Epub ahead of print]
- PURPOSE: Both glycogen storage disease type Ia (GSD Ia) and tyrosinemia type I (TYR I) are inherited metabolic disorders that can be complicated by formation of liver adenomas in juvenile/young adult age and/or development of hepatocellular carcinoma. We describe the first application of stereotacti
- PMID 24149831
- Childhood hepatocellular carcinoma: A clinicopathologic study of 12 cases with special reference to EpCAM.
- Zen Y, Vara R, Portmann B, Hadzic N.SourceHistopathology Section, Institute of Liver Studies, King's College Hospital, London, UK.
- Histopathology.Histopathology.2013 Oct 19. doi: 10.1111/his.12312. [Epub ahead of print]
- AIMS: To elucidate characteristics of hepatocellular carcinoma (HCC) in children.METHODS AND RESULTS: A retrospective search of our database identified 12 children with HCC (10 months to 11 years of age; M/F=5/7). Their pathologic features were compared with adult HCCs (n=20), fibrolamellar HCCs (n=
- PMID 24138022
- Effect of Acute Administration of L-Tyrosine on Oxidative Stress Parameters in Brain of Young Rats.
- Macêdo LG, Carvalho-Silva M, Ferreira GK, Vieira JS, Olegário N, Gonçalves RC, Vuolo FS, Ferreira GC, Schuck PF, Dal-Pizzol F, Streck EL.SourceLaboratório de Bioenergética, Programa de Pós-graduação em Ciências da Saúde, Universidade do Extremo Sul Catarinense, Av. Universitária 1105, Criciúma, SC, 88806-000, Brazil.
- Neurochemical research.Neurochem Res.2013 Oct 18. [Epub ahead of print]
- Tyrosinemia type II, also known as Richner-Hanhart syndrome, is an autosomal recessive inborn error of metabolism caused by a deficiency of hepatic cytosolic tyrosine aminotransferase, and is associated with neurologic and development difficulties in numerous patients. Considering that the mechanism
- PMID 24135880
Japanese Journal
- Hepatorenal tyrosinemia
- Proceedings of the Japan Academy, Series B 88(5), 192-200, 2012
- … In 1957 Sakai and Kitagawa in Japan reported the clinical and biochemical findings in a patient with tyrosinemia, tyrosyluria, liver cirrhosis, and renal rickets. … Subsequently, reports were published from various countries of other patients with hepatorenal tyrosinemia (HRT). …
- NAID 130001924745
- Comparison of plasma and dry blood spots as samples for the determination of nitisinone (NTBC) by high-performance liquid chromatography-tandem mass spectrometry. Study of the stability of the samples at different temperatures
- PRIETO Jose A.,ANDRADE Fernando,LAGE Sergio,ALDAMIZ-ECHEVARRIA Luis
- Journal of chromatography. B, Analytical technologies in the biomedical and life sciences 879(11), 671-676, 2011-04-01
- NAID 10029518345
- Liquid chromatography tandem mass spectrometry method for the quantitation of NTBC (2-(nitro-4-trifluoromethylbenzoyl)1,3-cyclohexanedione) in plasma of tyrosinemia type 1 patients
- HEREBIAN Diran,SPIEKERKOTTER Ute,LAMSHOFT Marc,THIMM Eva,LARYEA Maurice,MAYATEPEK Ertan
- Journal of chromatography. B, Analytical technologies in the biomedical and life sciences 877(14), 1453-1459, 2009-05-15
- NAID 10028017531
Related Links
- Tyrosinemia (or "Tyrosinaemia") is an error of metabolism, usually inborn, in which the body cannot effectively break down the amino acid tyrosine. Symptoms include liver and kidney disturbances and mental retardation. Untreated ...
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★リンクテーブル★
| リンク元 | 「アミノ酸代謝異常症」「チロシン血症」 |
| 拡張検索 | 「hereditary tyrosinemia」「type I tyrosinemia」 |
「アミノ酸代謝異常症」
- 英
- aminoacidopathy, disorder of aminoacid metabolism disorders of amino acid metabolism
- 同
- アミノ酸代謝異常、先天性アミノ酸代謝異常症 先天性アミノ酸代謝異常 inborn error of amino acid metabolism
アミノ酸代謝異常症
- 国試で出たことが有るレベル
- 白化 albinism
- アルカプトン尿症 alkaptonuria
- 非ケトーシス型高グリシン血症 nonketotic hyperglycinemia
- 高ホモシステイン血症 hyperhomocysteinemia
- 高リジン血症 hyperlysinemia
- メープルシロップ尿症 maple syrup urine disease
- 多種アシルCoA脱水素酵素欠損症 multiple acyl-coenzyme A dehydrogenase deficiency
- マルチプルカルボキシラーゼ欠損症 multiple carboxylase deficiency
- フェニルケトン尿症 phenylketonuria
- プロピオン酸血症 propionic acidemia
- チロシン血症 tyrosinemia
- 先天性尿素回路代謝異常 inborn urea cycle disorder