肝性・ルフィリン症

WordNet

pertaining to or affecting the liver; "hepatic ducts"; "hepatic cirrhosis"
a genetic abnormality of metabolism causing abdominal pains and mental confusion

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出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2016/01/15 03:54:13」(JST)

Hepatic porphyrias is a form of porphyria in which the enzyme deficiency occurs in the liver.^[1]

Examples include (in order of synthesis pathway):

Porphyrias, Hepatic at the US National Library of Medicine Medical Subject Headings (MeSH)
www.drugs-porphyria.com
www.porphyria-europe.com

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Extrahepatic Manifestations of Hepatitis C: A Meta-analysis of Prevalence, Quality of Life, and Economic Burden.

Younossi Z1, Park H2, Henry L3, Adeyemi A2, Stepanova M4.
Gastroenterology.Gastroenterology.2016 Jun;150(7):1599-608. doi: 10.1053/j.gastro.2016.02.039. Epub 2016 Feb 26.
BACKGROUND & AIMS: Hepatitis C virus (HCV) infection has hepatic and extrahepatic manifestations with various costs and impairments to health-related quality of life (HRQL). We performed a meta-analysis to determine the prevalence of extrahepatic manifestations in patients with HCV infection, ho
PMID 26924097

Recombinant AAV Integration Is Not Associated With Hepatic Genotoxicity in Nonhuman Primates and Patients.

Gil-Farina I1, Fronza R1, Kaeppel C1,2, Lopez-Franco E3, Ferreira V4, D'Avola D5,6, Benito A5,6, Prieto J5,6, Petry H4, Gonzalez-Aseguinolaza G3,6, Schmidt M1.
Molecular therapy : the journal of the American Society of Gene Therapy.Mol Ther.2016 Jun;24(6):1100-5. doi: 10.1038/mt.2016.52. Epub 2016 Mar 7.
Recombinant adeno-associated viral vectors (rAAV) currently constitute a real therapeutic strategy for the sustained correction of diverse genetic conditions. Though a wealth of preclinical and clinical studies have been conducted with rAAV, the oncogenic potential of these vectors is still controve
PMID 26948440

Phase I Open Label Liver-Directed Gene Therapy Clinical Trial for Acute Intermittent Porphyria.

D'Avola D1, López-Franco E2, Sangro B1, Pañeda A3, Grossios N4, Gil-Farina I5, Benito A6, Twisk J4, Paz M3, Ruiz J3, Schmidt M5, Petry H4, Harper P7, de Salamanca RE8, Fontanellas A9, Prieto J10, González-Aseguinolaza G11.
Journal of hepatology.J Hepatol.2016 May 17. pii: S0168-8278(16)30198-2. doi: 10.1016/j.jhep.2016.05.012. [Epub ahead of print]
BACKGROUND & AIMS: Acute intermittent porphyria (AIP) results from porphobilinogen deaminase (PBGD) haploinsufficiency, which leads to hepatic over-production of the neurotoxic heme precursors porphobilinogen (PBG) and delta-aminolevulinic acid (ALA) and the occurrence of neurovisceral attacks.
PMID 27212246

Manifestation of psychiatric behaviors in a mouse model of griseofulvin-induced hepatic porphyria

Satoh Yoko,Iwadate Reiko,Watanabe Yukino [他],Kawai Hiroshi,Kudo Naomi,Kawashima Yoichi,Mitsumoto Atsushi
Journal of toxicological sciences 33(5), 599-608, 2008-12-01
… Most patients with hepatic porphyria exhibit neuropsychiatric symptoms, including abdominal pain, peripheral neuropathy, confusion, insomnia and mental disturbances such as anxiety and depression. … Although heme deficiency and accumulation of heme precursors are thought to be responsible for neuropsychiatric manifestations in patients with acute porphyria, the pathogenetic mechanisms remain poorly understood. …
NAID 110007005559

Co-synthesis of Human .DELTA.-Aminolevulinate Dehydratase (ALAD) Mutants with the Wild-type Enzyme in Cell-free System-Critical Importance of Conformation on Enzyme Activity-

Inoue Rikako,Akagi Reiko
Journal of Clinical Biochemistry and Nutrition 43(3), 143-153, 2008
… Properties of mutant δ-aminolevulinate dehydratase (ALAD) found in patients with ALAD porphyria were studied by enzymological and immunological analyses after the synthesis of enzyme complexes using a cell-free system. …
NAID 130004879151