protoporphyrin ix has been researched along with Erythrohepatic Protoporphyria in 45 studies
protoporphyrin IX: RN given refers to parent cpd; structure in Merck Index, 9th ed, #7685
protoporphyrin : A cyclic tetrapyrrole that consists of porphyrin bearing four methyl substituents at positions 3, 8, 13 and 17, two vinyl substituents at positions 7 and 12 and two 2-carboxyethyl substituents at positions 2 and 18. The parent of the class of protoporphyrins.
Excerpt | Relevance | Reference |
---|---|---|
"Protoporphyrin IX (PPIX) is an intermediate in the heme biosynthesis pathway." | 3.01 | Protoporphyrin IX-induced phototoxicity: Mechanisms and therapeutics. ( Anderson, KE; Hussain, Z; Ma, X; Qi, Q; Zhu, J, 2023) |
" The preference of the subjects could lead to the long-term use of the tested products." | 2.87 | Prevention of photosensitivity with action spectrum adjusted protection for erythropoietic protoporphyria. ( Asano, H; Kamide, R; Kawada, A; Kawara, S; Mizuno, M; Naru, E; Teramura, T, 2018) |
"Patients with erythropoietic protoporphyria (EPP), an inherited deficiency in FECH, often show signs of iron deficiency in addition to phototoxicity which is caused by PPIX accumulation." | 2.80 | In ferrochelatase-deficient protoporphyria patients, ALAS2 expression is enhanced and erythrocytic protoporphyrin concentration correlates with iron availability. ( Barman-Aksözen, J; Biolcati, G; Minder, EI; Schneider-Yin, X; Schubiger, C, 2015) |
"tuberculosis (TB)." | 1.51 | Results of a pilot study of isoniazid in patients with erythropoietic protoporphyria. ( Anderson, KE; Balwani, M; Bissel, MD; Bloomer, JR; Desnick, RJ; Gouya, L; Parker, CJ; Phillips, JD; Puy, H; Singal, A, 2019) |
"Patients with erythropoietic protoporphyria (EPP) have reduced activity of the enzyme ferrochelatase that catalyzes the insertion of iron into protoporphyrin IX (PPIX) to form heme." | 1.46 | Disturbed iron metabolism in erythropoietic protoporphyria and association of GDF15 and gender with disease severity. ( Aurizi, C; Barbieri, L; Barman-Aksoezen, J; Biolcati, G; Campostrini, N; Girelli, D; Minder, EI; Schneider-Yin, X, 2017) |
"According to the clinical features, erythropoietic protoporphyria (EPP) was suspected." | 1.43 | X-linked dominant protoporphyria: The first reported Japanese case. ( Akasaka, E; Kokunai, Y; Moriwaki, S; Nakano, H; Ninomiya, Y; Tanizaki, H, 2016) |
"Laboratory diagnosis of erythropoietic protoporphyria (EPP) requires a marked increase in total erythrocyte protoporphyrin (300-5000 μg/dL erythrocytes, reference interval <80 μg/dL) and a predominance (85%-100%) of metal-free protoporphyrin [normal, mostly zinc protoporphyrin (reference intervals for the zinc protoporphyrin proportion have not been established)]; plasma porphyrins are not always increased." | 1.42 | Pitfalls in Erythrocyte Protoporphyrin Measurement for Diagnosis and Monitoring of Protoporphyrias. ( Anderson, KE; Balwani, M; Bissell, DM; Bloomer, JR; Bonkovsky, HL; Desnick, RJ; Gou, EW; Keel, S; Naik, H; Phillips, JD; Singal, AK; Wang, B, 2015) |
"In 90% of people with erythropoietic protoporphyria (EPP), the disease results from the inheritance of a common hypomorphic FECH allele, encoding ferrochelatase, in trans to a private deleterious FECH mutation." | 1.40 | Antisense oligonucleotide-based therapy in human erythropoietic protoporphyria. ( Beaumont, C; de Verneuil, H; Deybach, JC; Ducamp, S; Gouya, L; Grandchamp, B; Guyonnet-Dupérat, V; Karim, Z; Lyoumi, S; Manceau, H; Marie, J; Mirmiran, A; Moreau-Gaudry, F; Oustric, V; Peoc'h, K; Puy, H; Schmitt, C; Soaid, R, 2014) |
"The PP level of the erythropoietic protoporphyria (EPP) patients was significantly higher than that of healthy volunteers." | 1.38 | A novel rapid method for simultaneous determination of three diagnostically important porphyrins in erythrocytes using hyphenated synchronous fluorescence techniques. ( Huang, W; Li, YQ; Liu, Q; Shindi, AA, 2012) |
" We have used gene dosage analysis by quantitative PCR to identify large deletions of the FECH gene in 19 (58%) of 33 unrelated UK patients with EPP in whom mutations could not be detected by sequencing." | 1.34 | Gene dosage analysis identifies large deletions of the FECH gene in 10% of families with erythropoietic protoporphyria. ( Anstey, AV; Badminton, MN; Elder, GH; Holme, SA; Mason, NG; Whatley, SD, 2007) |
Timeframe | Studies, this research(%) | All Research% |
---|---|---|
pre-1990 | 0 (0.00) | 18.7374 |
1990's | 0 (0.00) | 18.2507 |
2000's | 10 (22.22) | 29.6817 |
2010's | 26 (57.78) | 24.3611 |
2020's | 9 (20.00) | 2.80 |
Authors | Studies |
---|---|
Heerfordt, IM | 5 |
Fontenete, S | 1 |
Lerche, CM | 3 |
Wulf, HC | 7 |
Hussain, Z | 1 |
Qi, Q | 1 |
Zhu, J | 2 |
Anderson, KE | 4 |
Ma, X | 2 |
Parker, CJ | 1 |
Desnick, RJ | 3 |
Bissel, MD | 1 |
Bloomer, JR | 2 |
Singal, A | 1 |
Gouya, L | 5 |
Puy, H | 5 |
Balwani, M | 4 |
Phillips, JD | 2 |
Wang, P | 1 |
Sachar, M | 1 |
Lu, J | 1 |
Shehu, AI | 1 |
Chen, J | 1 |
Liu, K | 1 |
Xie, W | 1 |
Gonzalez, FJ | 1 |
Klaassen, CD | 1 |
Nissen, CV | 1 |
Philipsen, PA | 2 |
Heydenreich, J | 1 |
Wang, Y | 2 |
Karamchandani, DM | 1 |
Halloy, F | 2 |
Iyer, PS | 2 |
Ghidini, A | 1 |
Lysenko, V | 1 |
Barman-Aksözen, J | 3 |
Grubenmann, CP | 1 |
Jucker, J | 1 |
Wildner-Verhey van Wijk, N | 1 |
Ruepp, MD | 1 |
Minder, EI | 4 |
Minder, AE | 2 |
Schneider-Yin, X | 4 |
Theocharides, APA | 1 |
Schümperli, D | 2 |
Hall, J | 2 |
Genovese, G | 1 |
Maronese, CA | 1 |
Moltrasio, C | 1 |
Piccinno, R | 1 |
Marletta, DA | 1 |
De Luca, G | 1 |
Graziadei, G | 2 |
Granata, F | 2 |
Di Pierro, E | 2 |
Cappellini, MD | 2 |
Marzano, AV | 1 |
Fujimori, N | 1 |
Komatsu, M | 1 |
Tanaka, N | 1 |
Iwaya, M | 1 |
Nakano, H | 2 |
Sugiura, A | 1 |
Yamazaki, T | 1 |
Shibata, S | 1 |
Iwaya, Y | 1 |
Muraki, T | 1 |
Ichikawa, Y | 1 |
Kimura, T | 1 |
Joshita, S | 1 |
Umemura, T | 1 |
Matsumoto, A | 1 |
Tanaka, E | 1 |
Biewenga, M | 1 |
Matawlie, RHS | 1 |
Friesema, ECH | 1 |
Koole-Lesuis, H | 1 |
Langeveld, M | 1 |
Wilson, JHP | 1 |
Langendonk, JG | 1 |
Teramura, T | 1 |
Mizuno, M | 1 |
Asano, H | 1 |
Naru, E | 1 |
Kawara, S | 1 |
Kamide, R | 1 |
Kawada, A | 1 |
Phillips, J | 2 |
Farrell, C | 1 |
Singal, AK | 2 |
Anderson, K | 1 |
Bissell, M | 1 |
Bonkovsky, H | 2 |
Seay, T | 1 |
Paw, B | 1 |
Desnick, R | 1 |
Bloomer, J | 1 |
Snast, I | 1 |
Kaftory, R | 1 |
Sherman, S | 1 |
Edel, Y | 1 |
Hodak, E | 1 |
Levi, A | 1 |
Lapidoth, M | 1 |
Wong, MY | 1 |
Tang, HW | 1 |
Man, SH | 1 |
Lam, CW | 1 |
Che, CM | 1 |
Ng, KM | 1 |
Oustric, V | 1 |
Manceau, H | 1 |
Ducamp, S | 3 |
Soaid, R | 1 |
Karim, Z | 1 |
Schmitt, C | 1 |
Mirmiran, A | 1 |
Peoc'h, K | 1 |
Grandchamp, B | 1 |
Beaumont, C | 2 |
Lyoumi, S | 2 |
Moreau-Gaudry, F | 2 |
Guyonnet-Dupérat, V | 1 |
de Verneuil, H | 1 |
Marie, J | 1 |
Deybach, JC | 3 |
Schubiger, C | 1 |
Biolcati, G | 3 |
Buonuomo, PS | 1 |
Macchiaiolo, M | 1 |
Gonfiantini, MV | 1 |
Pitisci, A | 1 |
Villani, A | 1 |
Bartuli, A | 1 |
Brancaleoni, V | 1 |
Missineo, P | 1 |
Fiorentino, V | 1 |
Fustinoni, S | 1 |
Naik, H | 2 |
Landefeld, C | 1 |
Kentouche, K | 1 |
Gruhn, B | 1 |
Stauch, T | 1 |
Rößler, S | 1 |
Schuppan, D | 1 |
Whatley, SD | 2 |
Beck, JF | 1 |
Stölzel, U | 1 |
Fratz, EJ | 1 |
Clayton, J | 1 |
Hunter, GA | 1 |
Breydo, L | 2 |
Uversky, VN | 2 |
Ferreira, GC | 2 |
Ninomiya, Y | 1 |
Kokunai, Y | 1 |
Tanizaki, H | 1 |
Akasaka, E | 1 |
Moriwaki, S | 1 |
Gou, EW | 1 |
Bissell, DM | 1 |
Bonkovsky, HL | 1 |
Wang, B | 1 |
Keel, S | 1 |
Elenbaas, JS | 1 |
Maitra, D | 1 |
Liu, Y | 1 |
Lentz, SI | 1 |
Nelson, B | 1 |
Hoenerhoff, MJ | 1 |
Shavit, JA | 1 |
Omary, MB | 1 |
Fratz-Berilla, EJ | 1 |
Barman-Aksoezen, J | 1 |
Girelli, D | 1 |
Aurizi, C | 1 |
Campostrini, N | 1 |
Barbieri, L | 1 |
Delaby, C | 1 |
Martin-Schmitt, C | 1 |
Martinez, Mdel C | 1 |
Afonso, SG | 1 |
Meiss, RP | 1 |
Buzaleh, AM | 1 |
Batlle, A | 1 |
Blagojevic, D | 1 |
Schenk, T | 1 |
Haas, O | 1 |
Zierhofer, B | 1 |
Konnaris, C | 1 |
Trautinger, F | 1 |
Hanneken, S | 1 |
Siegesmund, M | 1 |
Bolsen, K | 1 |
Gardlo, K | 1 |
Neumann, NJ | 1 |
Duchartre, Y | 1 |
Petit, N | 1 |
Moya, C | 1 |
Lalanne, M | 1 |
Dubus, P | 1 |
Verneuil, Hd | 1 |
Richard, E | 1 |
Troadec, MB | 1 |
Warner, D | 1 |
Wallace, J | 1 |
Thomas, K | 1 |
Spangrude, GJ | 1 |
Khalimonchuk, O | 1 |
Paw, BH | 1 |
Ward, DM | 1 |
Kaplan, J | 1 |
Liu, Q | 1 |
Huang, W | 1 |
Shindi, AA | 1 |
Li, YQ | 1 |
Zhou, S | 1 |
Zong, Y | 1 |
Ney, PA | 1 |
Nair, G | 1 |
Stewart, CF | 1 |
Sorrentino, BP | 1 |
Cooperman, SS | 1 |
Meyron-Holtz, EG | 1 |
Olivierre-Wilson, H | 1 |
Ghosh, MC | 1 |
McConnell, JP | 1 |
Rouault, TA | 1 |
Eefsen, M | 1 |
Rasmussen, A | 1 |
Brock, A | 1 |
Hansen, BA | 1 |
Mason, NG | 1 |
Holme, SA | 2 |
Anstey, AV | 3 |
Elder, GH | 2 |
Badminton, MN | 2 |
Worwood, M | 1 |
Wahlin, S | 1 |
Harper, P | 1 |
Hift, RJ | 1 |
Childs, S | 1 |
Weinstein, BM | 1 |
Mohideen, MA | 1 |
Donohue, S | 1 |
Fishman, MC | 1 |
3 reviews available for protoporphyrin ix and Erythrohepatic Protoporphyria
Article | Year |
---|---|
Protoporphyrin IX-induced phototoxicity: Mechanisms and therapeutics.
Topics: 5-Aminolevulinate Synthetase; Endothelial Cells; Humans; Protoporphyria, Erythropoietic; Protoporphy | 2023 |
Acquired erythropoietic protoporphyria: A systematic review of the literature.
Topics: Adult; Aged; Azacitidine; beta Carotene; Chromosomes, Human, Pair 18; Erythrocytes; Female; Ferroche | 2020 |
Liver disease in erythropoietic protoporphyria: insights and implications for management.
Topics: Animals; Disease Models, Animal; Humans; Liver Diseases; Liver Transplantation; Pedigree; Protoporph | 2007 |
3 trials available for protoporphyrin ix and Erythrohepatic Protoporphyria
Article | Year |
---|---|
Prevention of photosensitivity with action spectrum adjusted protection for erythropoietic protoporphyria.
Topics: Action Spectrum; Administration, Cutaneous; Adolescent; Adult; Child; Female; Humans; Male; Middle A | 2018 |
In ferrochelatase-deficient protoporphyria patients, ALAS2 expression is enhanced and erythrocytic protoporphyrin concentration correlates with iron availability.
Topics: 5-Aminolevulinate Synthetase; Adolescent; Adult; Erythrocytes; Female; Gene Expression Regulation, E | 2015 |
The prognostic value of cord blood analysis in erythropoietic protoporphyria: the 'Duesseldorf Cord Blood Study'.
Topics: Erythrocytes; Female; Ferrochelatase; Fetal Blood; Follow-Up Studies; Germany; Heme; Humans; Infant, | 2010 |
39 other studies available for protoporphyrin ix and Erythrohepatic Protoporphyria
Article | Year |
---|---|
Distribution of protoporphyrin IX in erythrocytes in a case of acquired erythropoietic protoporphyria.
Topics: Erythrocytes; Ferrochelatase; Humans; Photochemotherapy; Protoporphyria, Erythropoietic; Protoporphy | 2022 |
Results of a pilot study of isoniazid in patients with erythropoietic protoporphyria.
Topics: 5-Aminolevulinate Synthetase; Anemia, Sideroblastic; Animals; Disease Models, Animal; Female; Humans | 2019 |
The essential role of the transporter ABCG2 in the pathophysiology of erythropoietic protoporphyria.
Topics: Animals; ATP Binding Cassette Transporter, Subfamily G, Member 2; Ferrochelatase; Liver; Mice; Mice, | 2019 |
Inactivation of protoporphyrin IX in erythrocytes in patients with erythropoietic protoporphyria: A new treatment modality.
Topics: Adult; Extracorporeal Circulation; Female; Humans; Male; Middle Aged; Photochemotherapy; Protoporphy | 2020 |
Trends in erythrocyte protoporphyrin IX concentration by age, sex and season among patients with erythropoietic protoporphyria-20 years of follow-up.
Topics: Adolescent; Adult; Aged; Aged, 80 and over; Child; Child, Preschool; Erythrocytes; Female; Ferrochel | 2020 |
Light-provoked skin symptoms on the hands of erythropoietic protoporphyria patients related to personal dosimeter measurements, skin symptoms, light protection and priming.
Topics: Denmark; Erythrocytes; Female; Hand; Humans; Light; Male; Photosensitivity Disorders; Protoporphyria | 2020 |
Erythropoietic protoporphyria- associated hepatopathy: expanding the spectra of brown pigments encountered in hepatic specimens.
Topics: Ferrochelatase; Humans; Liver Diseases; Male; Middle Aged; Mutation; Protoporphyria, Erythropoietic; | 2021 |
Repurposing of glycine transport inhibitors for the treatment of erythropoietic protoporphyria.
Topics: Cells, Cultured; Erythrocytes; Glycine Plasma Membrane Transport Proteins; Humans; K562 Cells; Molec | 2021 |
Ultraviolet A phototest positivity is associated with higher free erythrocyte protoporphyrin IX concentration and lower transferrin saturation values in erythropoietic protoporphyria.
Topics: Erythrocytes; Humans; Protoporphyria, Erythropoietic; Protoporphyrins; Transferrins | 2022 |
Cimetidine/lactulose therapy ameliorates erythropoietic protoporphyria-related liver injury.
Topics: 5-Aminolevulinate Synthetase; Cimetidine; Gastrointestinal Agents; Humans; Lactulose; Liver; Liver C | 2017 |
Osteoporosis in patients with erythropoietic protoporphyria.
Topics: Adolescent; Adult; Aged; Bone Density; Bone Density Conservation Agents; Cross-Sectional Studies; Fe | 2017 |
Strong correlation of ferrochelatase enzymatic activity with Mitoferrin-1 mRNA in lymphoblasts of patients with protoporphyria.
Topics: 5-Aminolevulinate Synthetase; Cation Transport Proteins; Cell Line, Transformed; Ferrochelatase; Hum | 2019 |
Delta-aminolevulinic acid synthase 2 expression in combination with iron as modifiers of disease severity in erythropoietic protoporphyria.
Topics: 5-Aminolevulinate Synthetase; Biosynthetic Pathways; Ferrochelatase; Humans; Iron; Iron Regulatory P | 2019 |
Electrospray ionization on porous spraying tips for direct sample analysis by mass spectrometry: enhanced detection sensitivity and selectivity using hydrophobic/hydrophilic materials as spraying tips.
Topics: Diffusion; Humans; Hydrophobic and Hydrophilic Interactions; Limit of Detection; Polyesters; Polyeth | 2013 |
Antisense oligonucleotide-based therapy in human erythropoietic protoporphyria.
Topics: Cell Line; Female; Ferrochelatase; Humans; Male; Oligonucleotides, Antisense; Pedigree; Polymorphism | 2014 |
Erythropoietic protoporphyria in a boy.
Topics: Child; Humans; Male; Photosensitivity Disorders; Protoporphyria, Erythropoietic; Protoporphyrins | 2015 |
X-chromosomal inactivation directly influences the phenotypic manifestation of X-linked protoporphyria.
Topics: Alleles; Erythrocytes; Female; Genes, X-Linked; Genetic Diseases, X-Linked; Genotype; Humans; Male; | 2016 |
X-linked protoporphyria: Iron supplementation improves protoporphyrin overload, liver damage and anaemia.
Topics: 5-Aminolevulinate Synthetase; Anemia; Child; Humans; Iron; Liver; Liver Diseases; Male; Protoporphyr | 2016 |
Human Erythroid 5-Aminolevulinate Synthase Mutations Associated with X-Linked Protoporphyria Disrupt the Conformational Equilibrium and Enhance Product Release.
Topics: 5-Aminolevulinate Synthetase; Aminolevulinic Acid; Enzyme Stability; Escherichia coli; Genetic Disea | 2015 |
X-linked dominant protoporphyria: The first reported Japanese case.
Topics: 5-Aminolevulinate Synthetase; Alleles; Cheek; Child; Diagnosis, Differential; Ferrochelatase; Geneti | 2016 |
Pitfalls in Erythrocyte Protoporphyrin Measurement for Diagnosis and Monitoring of Protoporphyrias.
Topics: Adolescent; Adult; Child; Child, Preschool; Diagnosis, Differential; Erythrocytes; Female; Fluoromet | 2015 |
A precursor-inducible zebrafish model of acute protoporphyria with hepatic protein aggregation and multiorganelle stress.
Topics: Aminolevulinic Acid; Animals; Deferoxamine; Disease Models, Animal; Genetic Predisposition to Diseas | 2016 |
Protoporphyrin IX in the skin measured noninvasively predicts photosensitivity in patients with erythropoietic protoporphyria.
Topics: Case-Control Studies; Erythema; Female; Fluorescence; Humans; Male; Photobleaching; Protoporphyria, | 2016 |
Isoniazid inhibits human erythroid 5-aminolevulinate synthase: Molecular mechanism and tolerance study with four X-linked protoporphyria patients.
Topics: 5-Aminolevulinate Synthetase; Anemia, Sideroblastic; Enzyme Inhibitors; Genetic Diseases, X-Linked; | 2017 |
Patients with erythropoietic protoporphyria have reduced erythrocyte protoporphyrin IX from early in pregnancy.
Topics: Adult; Erythrocytes; Female; Humans; Pregnancy; Pregnancy Complications; Pregnancy Trimesters; Proto | 2017 |
Disturbed iron metabolism in erythropoietic protoporphyria and association of GDF15 and gender with disease severity.
Topics: Anemia, Hypochromic; Case-Control Studies; Erythrocytes; Female; Ferritins; Ferrochelatase; Growth D | 2017 |
Excessive erythrocyte PPIX influences the hematologic status and iron metabolism in patients with dominant erythropoietic protoporphyria.
Topics: Adolescent; Adult; Child; Erythrocytes; Erythropoiesis; Female; Humans; Iron; Lipids; Liver Function | 2009 |
Hepatic damage and oxidative stress induced by Griseofulvin in mice.
Topics: Animals; Antifungal Agents; Aryl Hydrocarbon Hydroxylases; Cytochrome P-450 CYP2A6; Cytochrome P-450 | 2009 |
Acquired erythropoietic protoporphyria.
Topics: Aged; beta Carotene; Humans; Male; Myelodysplastic Syndromes; Protoporphyria, Erythropoietic; Protop | 2010 |
Neonatal bone marrow transplantation prevents liver disease in a murine model of erythropoietic protoporphyria.
Topics: Animals; Animals, Newborn; Bone Marrow Transplantation; Busulfan; Disease Models, Animal; Disease Pr | 2011 |
Targeted deletion of the mouse Mitoferrin1 gene: from anemia to protoporphyria.
Topics: Anemia; Animals; Base Sequence; DNA Primers; Embryo Loss; Female; Gene Targeting; Heme; Hepatocytes; | 2011 |
A novel rapid method for simultaneous determination of three diagnostically important porphyrins in erythrocytes using hyphenated synchronous fluorescence techniques.
Topics: Biomarkers; Coproporphyrins; Erythrocytes; Humans; Limit of Detection; Protoporphyria, Erythropoieti | 2012 |
Increased expression of the Abcg2 transporter during erythroid maturation plays a role in decreasing cellular protoporphyrin IX levels.
Topics: Animals; ATP Binding Cassette Transporter, Subfamily G, Member 2; ATP-Binding Cassette Transporters; | 2005 |
Microcytic anemia, erythropoietic protoporphyria, and neurodegeneration in mice with targeted deletion of iron-regulatory protein 2.
Topics: Anemia; Animals; Bone Marrow; Erythroid Precursor Cells; Erythropoiesis; Ferritins; Iron; Iron Regul | 2005 |
Erythropoietic protoporphyria and pretransplantation treatment with nonbiological liver assist devices.
Topics: Adult; Erythrocytes; Humans; Liver Failure; Liver Transplantation; Male; Osmolar Concentration; Phot | 2007 |
Gene dosage analysis identifies large deletions of the FECH gene in 10% of families with erythropoietic protoporphyria.
Topics: DNA Mutational Analysis; Exons; Family Health; Ferrochelatase; Gene Deletion; Gene Dosage; Haplotype | 2007 |
Erythropoiesis and iron metabolism in dominant erythropoietic protoporphyria.
Topics: Anemia; Antigens, CD; Cross-Sectional Studies; Erythrocytes; Erythropoiesis; Female; Ferritins; Ferr | 2007 |
Pretransplant albumin dialysis in erythropoietic protoporphyria: a costly detour.
Topics: Erythrocytes; Humans; Liver Failure; Liver Transplantation; Plasmapheresis; Preoperative Care; Proto | 2007 |
Zebrafish dracula encodes ferrochelatase and its mutation provides a model for erythropoietic protoporphyria.
Topics: Animals; Disease Models, Animal; Ferrochelatase; Hemolysis; Humans; Light; Liver Diseases; Mutation; | 2000 |