porphobilinogen deaminase

出典: meddic

ポルフォビリノゲンデアミナーゼ PBGD

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出典(authority):フリー百科事典『ウィキペディア(Wikipedia)』「2016/01/13 22:10:00」(JST)

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英文文献

  • [Acute intermittent porphyria: Long-term follow up of 35 patients].
  • Herrero C1, Badenas C2, Aguilera P1, To-Figueras J3.
  • Medicina clínica.Med Clin (Barc).2015 Oct 21;145(8):332-7. doi: 10.1016/j.medcli.2014.06.012. Epub 2014 Sep 4.
  • BACKGROUND AND OBJECTIVES: Acute intermittent porphyria (AIP) is a rare disease that results from a deficiency of porphobilinogen deaminase, the third enzyme of the heme biosynthetic pathway. AIP carriers are at risk of presenting acute neurovisceral attacks associated with overproduction of heme-pr
  • PMID 25194977
  • Influence of Age on Cerebral Housekeeping Gene Expression for Normalization of Quantitative Polymerase Chain Reaction after Acute Brain Injury in Mice.
  • Timaru-Kast R1, Herbig EL1, Luh C1, Engelhard K1, Thal SC1.
  • Journal of neurotrauma.J Neurotrauma.2015 Sep 18. [Epub ahead of print]
  • 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). Therefore,
  • PMID 26102571
  • Mitochondrial energetic defects in muscle and brain of a Hmbs-/- mouse model of acute intermittent porphyria.
  • Homedan C1, Schmitt C2, Laafi J3, Gueguen N4, Desquiret-Dumas V4, Lenglet H5, Karim Z5, Gouya L2, Deybach JC2, Simard G1, Puy H2, Malthièry Y1, Reynier P6.
  • Human molecular genetics.Hum Mol Genet.2015 Sep 1;24(17):5015-23. doi: 10.1093/hmg/ddv222. Epub 2015 Jun 12.
  • Acute intermittent porphyria (AIP), an autosomal dominant metabolic disease (MIM #176000), is due to a deficiency of hydroxymethylbilane synthase (HMBS), which catalyzes the third step of the heme biosynthetic pathway. The clinical expression of the disease is mainly neurological, involving the auto
  • PMID 26071363

和文文献

  • 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))
  • 急性間欠性ポルフィリン症の一家系
  • 臨床血液 = The Japanese Journal of Clinical Hematology 45(7), 562-567, 2004-07-30
  • NAID 10013335662
  • A novel mutation in a family with non-erythroid variant form of acute intermittent porphyria

関連リンク

Porphobilinogen deaminase deficiency symptoms, causes, diagnosis, and treatment information for Porphobilinogen deaminase deficiency (Acute intermittent porphyria) with alternative diagnoses, full-text book chapters, misdiagnosis ... ...
Abstinence from alcohol for at least 24 hours prior to specimen collection is essential as ethanol induces porphobilinogen deaminase (PBGD) activity, which may lead to a false-normal result. A normal result does not rule out acute ...

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★リンクテーブル★
リンク元ポルフォビリノゲンデアミナーゼ」「ヒドロキシメチルビラン」「PBGD」「PBGD deficiency
関連記事deaminase」「porphobilinogen

ポルフォビリノゲンデアミナーゼ」

  [★]

porphobilinogen deaminase
ポルホビリノーゲンデアミナーゼ
ポルフォビリノゲン
[show details]


ヒドロキシメチルビラン」

  [★]

hydroxymethylbilane, HMB
ビルフィリン症、ヘム


PBGD」

  [★]


porphobilinogen deaminase


PBGD deficiency」

  [★]

porphobilinogen deaminase


deaminase」

  [★]

デアミナーゼ脱アミノ酵素


porphobilinogen」

  [★] ポルホビリノーゲン PBG




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