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- 1. 急性間欠性ポルフィリン症：発症機序、臨床的特徴、診断 acute intermittent porphyria pathogenesis clinical features and diagnosis
- 2. ポルフィリン症：概要 porphyrias an overview
- 3. 成人に生じる初回痙攣発作の評価とマネージメント evaluation and management of the first seizure in adults
- 4. 急性間欠性ポルフィリン症：マネージメント acute intermittent porphyria management
- 5. ALA脱水酵素欠損性ポルフィリン症 ala dehydratase porphyria
English Journal
- A novel mutation in the porphobilinogen deaminase gene in an extended Chinese family with acute intermittent porphyria.
- Yang J1, Wang H2, Yin K2, Hua B3, Zhu T3, Zhao Y3, Guo S4, Yu X4, Wu W5, Zhou Z6.
- Gene.Gene.2015 Jul 10;565(2):288-90. doi: 10.1016/j.gene.2015.04.027. Epub 2015 Apr 11.
- Acute intermittent porphyria (AIP) is an autosomal dominant disorder caused by a partial deficiency of porphobilinogen deaminase (PBGD), the third enzyme of the heme biosynthetic pathway. Establishing accurate diagnoses of the patient and asymptomatic family members with AIP involves identifying the
- PMID 25870942
- Novel A219P Mutation of Hydroxymethylbilane Synthase Identified in a Chinese Woman with Acute Intermittent Porphyria and Syndrome of Inappropriate Antidiuretic Hormone.
- Li Y1, Qu H1, Wang H1, Deng H1, Liu Z2.
- Annals of human genetics.Ann Hum Genet.2015 Jul;79(4):310-2. doi: 10.1111/ahg.12107. Epub 2015 Mar 18.
- Acute intermittent porphyria (AIP) is an autosomal dominant metabolic disorder caused by deficiency of the heme biosynthetic enzyme hydroxymethylbilane synthase (approved gene symbol HMBS), also known as porphobilinogen deaminase (PBGD). AIP is characterised by intermittent attacks of abdominal pain
- PMID 25787008
- Influence of age on cerebral housekeeping gene expression for normalization of quantitative PCR after acute brain injury in mice.
- Timaru-Kast R1,2, Herbig EL3, Luh C4, Engelhard K5,6, Thal SC7,8.
- Journal of neurotrauma.J Neurotrauma.2015 Jun 23. [Epub ahead of print]
- In order to prevent methodological errors of quantitative PCR (qPCR) normalization with reference genes is obligatory. Although known to influence gene expression, impact of age on housekeeping gene expression has not been determined after acute brain lesions such as traumatic brain injury (TBI). Th
- PMID 26102571
Japanese Journal
- 色素関係 ポルホビリノーゲン・デアミナーゼ(PBGD) (広範囲 血液・尿化学検査,免疫学的検査(第7版・1)その数値をどう読むか) -- (生化学的検査(1))
- 日本臨床 67(-), 797-800, 2009-12
- NAID 40016874618
- A Relevant Reference Gene and Normalization for mRNA Real-Time PCR Quantification in Specimens with Distinct Cell Types and Variant Integrity
- Acta medica Nagasakiensia 51(2), 57-63, 2006-06
- NAID 110004656173
- A Relevant Reference Gene and Normalization for mRNA Real-Time PCR Quantification in Specimens with Distinct Cell Types and Variant Integrity
- Acta Medica Nagasakiensia 51(2), 57-63, 2006
- NAID 130004450927
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★リンクテーブル★
| リンク元 | 「porphobilinogen deaminase」 |
| 拡張検索 | 「PBGD deficiency」 |
| 関連記事 | 「PBG」「PB」 |