Fumarylacetoacetate hydrolase (English Wikipedia)

Analysis of information sources in references of the Wikipedia article "Fumarylacetoacetate hydrolase" in English language version.

refsWebsite

Global rank English rank

28nih.gov

4^th place

12doi.org

2^nd place

3semanticscholar.org

11^th place

8^th place

2ensembl.org

1,626^th place

1,007^th place

2worldcat.org

5^th place

1uniprot.org

5,673^rd place

6,418^th place

1zenodo.org

621^st place

380^th place

1omim.org

4,380^th place

4,305^th place

doi.org

Agsteribbe E, van Faassen H, Hartog MV, Reversma T, Taanman JW, Pannekoek H, Evers RF, Welling GM, Berger R (April 1990). "Nucleotide sequence of cDNA encoding human fumarylacetoacetase". Nucleic Acids Research. 18 (7): 1887. doi:10.1093/nar/18.7.1887. PMC 330610. PMID 2336361.
Timm DE, Mueller HA, Bhanumoorthy P, Harp JM, Bunick GJ (September 1999). "Crystal structure and mechanism of a carbon-carbon bond hydrolase". Structure. 7 (9): 1023–33. doi:10.1016/s0969-2126(99)80170-1. PMID 10508789.
Bateman RL, Bhanumoorthy P, Witte JF, McClard RW, Grompe M, Timm DE (May 2001). "Mechanistic inferences from the crystal structure of fumarylacetoacetate hydrolase with a bound phosphorus-based inhibitor". The Journal of Biological Chemistry. 276 (18): 15284–91. doi:10.1074/jbc.M007621200. PMID 11154690.
Kvittingen, E.A.; Jellum, E.; Stokke, O. (1981-09-24). "Assay of fumarylacetoacetate fumarylhydrolase in human liver—deficient activity in a case of hereditary tyrosinemia". Clinica Chimica Acta. 115 (3): 311–319. doi:10.1016/0009-8981(81)90244-8. PMID 7296877.
Kvittingen, E.A.; Jellum, E.; Stokke, O. (1981-09-24). "Assay of fumarylacetoacetate fumarylhydrolase in human liver—deficient activity in a case of hereditary tyrosinemia". Clinica Chimica Acta. 115 (3): 311–319. doi:10.1016/0009-8981(81)90244-8. ISSN 0009-8981. PMID 7296877.
Labelle Y, Phaneuf D, Leclerc B, Tanguay RM (July 1993). "Characterization of the human fumarylacetoacetate hydrolase gene and identification of a missense mutation abolishing enzymatic activity". Human Molecular Genetics. 2 (7): 941–6. doi:10.1093/hmg/2.7.941. PMID 8364576.
St-Louis, Maryse; Tanguay, Robert M. (1997). "Mutations in the fumarylacetoacetate hydrolase gene causing hereditary tyrosinemia type I: Overview". Human Mutation. 9 (4): 291–299. doi:10.1002/(sici)1098-1004(1997)9:4<291::aid-humu1>3.0.co;2-9. ISSN 1059-7794. PMID 9101289. S2CID 21881874.
Ploos van Amstel JK, Bergman AJ, van Beurden EA, Roijers JF, Peelen T, van den Berg IE, Poll-The BT, Kvittingen EA, Berger R (January 1996). "Hereditary tyrosinemia type 1: novel missense, nonsense and splice consensus mutations in the human fumarylacetoacetate hydrolase gene; variability of the genotype-phenotype relationship". Human Genetics. 97 (1): 51–9. doi:10.1007/BF00218833. PMID 8557261. S2CID 20070794.
Hahn SH, Krasnewich D, Brantly M, Kvittingen EA, Gahl WA (1995). "Heterozygosity for an exon 12 splicing mutation and a W234G missense mutation in an American child with chronic tyrosinemia type 1". Human Mutation. 6 (1): 66–73. doi:10.1002/humu.1380060113. PMID 7550234. S2CID 41460261.
Phaneuf D, Lambert M, Laframboise R, Mitchell G, Lettre F, Tanguay RM (October 1992). "Type 1 hereditary tyrosinemia. Evidence for molecular heterogeneity and identification of a causal mutation in a French Canadian patient". The Journal of Clinical Investigation. 90 (4): 1185–92. doi:10.1172/JCI115979. PMC 443158. PMID 1401056.
Mohamed S, Kambal MA, Al Jurayyan NA, Al-Nemri A, Babiker A, Hasanato R, Al-Jarallah AS (September 2013). "Tyrosinemia type 1: a rare and forgotten cause of reversible hypertrophic cardiomyopathy in infancy". BMC Research Notes. 6: 362. doi:10.1186/1756-0500-6-362. PMC 3846631. PMID 24016420.
Chinsky JM, Singh R, Ficicioglu C, van Karnebeek CD, Grompe M, Mitchell G, Waisbren SE, Gucsavas-Calikoglu M, Wasserstein MP, Coakley K, Scott CR (December 2017). "Diagnosis and treatment of tyrosinemia type I: a US and Canadian consensus group review and recommendations". Genetics in Medicine. 19 (12): 1380–1395. doi:10.1038/gim.2017.101. PMC 5729346. PMID 28771246.

ensembl.org

May2017.archive.ensembl.org

GRCh38: Ensembl release 89: ENSG00000103876 – Ensembl, May 2017
GRCm38: Ensembl release 89: ENSMUSG00000030630 – Ensembl, May 2017

nih.gov

pubmed.ncbi.nlm.nih.gov

Phaneuf D, Labelle Y, Bérubé D, Arden K, Cavenee W, Gagné R, Tanguay RM (March 1991). "Cloning and expression of the cDNA encoding human fumarylacetoacetate hydrolase, the enzyme deficient in hereditary tyrosinemia: assignment of the gene to chromosome 15". American Journal of Human Genetics. 48 (3): 525–35. PMC 1682993. PMID 1998338.
Agsteribbe E, van Faassen H, Hartog MV, Reversma T, Taanman JW, Pannekoek H, Evers RF, Welling GM, Berger R (April 1990). "Nucleotide sequence of cDNA encoding human fumarylacetoacetase". Nucleic Acids Research. 18 (7): 1887. doi:10.1093/nar/18.7.1887. PMC 330610. PMID 2336361.
Timm DE, Mueller HA, Bhanumoorthy P, Harp JM, Bunick GJ (September 1999). "Crystal structure and mechanism of a carbon-carbon bond hydrolase". Structure. 7 (9): 1023–33. doi:10.1016/s0969-2126(99)80170-1. PMID 10508789.
Tanguay RM, Valet JP, Lescault A, Duband JL, Laberge C, Lettre F, Plante M (August 1990). "Different molecular basis for fumarylacetoacetate hydrolase deficiency in the two clinical forms of hereditary tyrosinemia (type I)". American Journal of Human Genetics. 47 (2): 308–16. PMC 1683717. PMID 2378356.
Bateman RL, Bhanumoorthy P, Witte JF, McClard RW, Grompe M, Timm DE (May 2001). "Mechanistic inferences from the crystal structure of fumarylacetoacetate hydrolase with a bound phosphorus-based inhibitor". The Journal of Biological Chemistry. 276 (18): 15284–91. doi:10.1074/jbc.M007621200. PMID 11154690.
Kvittingen, E.A.; Jellum, E.; Stokke, O. (1981-09-24). "Assay of fumarylacetoacetate fumarylhydrolase in human liver—deficient activity in a case of hereditary tyrosinemia". Clinica Chimica Acta. 115 (3): 311–319. doi:10.1016/0009-8981(81)90244-8. PMID 7296877.
Kvittingen, E.A.; Jellum, E.; Stokke, O. (1981-09-24). "Assay of fumarylacetoacetate fumarylhydrolase in human liver—deficient activity in a case of hereditary tyrosinemia". Clinica Chimica Acta. 115 (3): 311–319. doi:10.1016/0009-8981(81)90244-8. ISSN 0009-8981. PMID 7296877.
Sniderman King L, Trahms C, Scott CR (July 2006). "Tyrosinemia Type I". In Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJ, Stephens K, Amemiya A (eds.). GeneReviews. Seattle: University of Washington. PMID 20301688.
Labelle Y, Phaneuf D, Leclerc B, Tanguay RM (July 1993). "Characterization of the human fumarylacetoacetate hydrolase gene and identification of a missense mutation abolishing enzymatic activity". Human Molecular Genetics. 2 (7): 941–6. doi:10.1093/hmg/2.7.941. PMID 8364576.
Rootwelt H, Berger R, Gray G, Kelly DA, Coşkun T, Kvittingen EA (October 1994). "Novel splice, missense, and nonsense mutations in the fumarylacetoacetase gene causing tyrosinemia type 1". American Journal of Human Genetics. 55 (4): 653–8. PMC 1918286. PMID 7942842.
St-Louis, Maryse; Tanguay, Robert M. (1997). "Mutations in the fumarylacetoacetate hydrolase gene causing hereditary tyrosinemia type I: Overview". Human Mutation. 9 (4): 291–299. doi:10.1002/(sici)1098-1004(1997)9:4<291::aid-humu1>3.0.co;2-9. ISSN 1059-7794. PMID 9101289. S2CID 21881874.
Ploos van Amstel JK, Bergman AJ, van Beurden EA, Roijers JF, Peelen T, van den Berg IE, Poll-The BT, Kvittingen EA, Berger R (January 1996). "Hereditary tyrosinemia type 1: novel missense, nonsense and splice consensus mutations in the human fumarylacetoacetate hydrolase gene; variability of the genotype-phenotype relationship". Human Genetics. 97 (1): 51–9. doi:10.1007/BF00218833. PMID 8557261. S2CID 20070794.
Hahn SH, Krasnewich D, Brantly M, Kvittingen EA, Gahl WA (1995). "Heterozygosity for an exon 12 splicing mutation and a W234G missense mutation in an American child with chronic tyrosinemia type 1". Human Mutation. 6 (1): 66–73. doi:10.1002/humu.1380060113. PMID 7550234. S2CID 41460261.
Phaneuf D, Lambert M, Laframboise R, Mitchell G, Lettre F, Tanguay RM (October 1992). "Type 1 hereditary tyrosinemia. Evidence for molecular heterogeneity and identification of a causal mutation in a French Canadian patient". The Journal of Clinical Investigation. 90 (4): 1185–92. doi:10.1172/JCI115979. PMC 443158. PMID 1401056.
Mohamed S, Kambal MA, Al Jurayyan NA, Al-Nemri A, Babiker A, Hasanato R, Al-Jarallah AS (September 2013). "Tyrosinemia type 1: a rare and forgotten cause of reversible hypertrophic cardiomyopathy in infancy". BMC Research Notes. 6: 362. doi:10.1186/1756-0500-6-362. PMC 3846631. PMID 24016420.
Chinsky JM, Singh R, Ficicioglu C, van Karnebeek CD, Grompe M, Mitchell G, Waisbren SE, Gucsavas-Calikoglu M, Wasserstein MP, Coakley K, Scott CR (December 2017). "Diagnosis and treatment of tyrosinemia type I: a US and Canadian consensus group review and recommendations". Genetics in Medicine. 19 (12): 1380–1395. doi:10.1038/gim.2017.101. PMC 5729346. PMID 28771246.

ncbi.nlm.nih.gov

"Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
"Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
Phaneuf D, Labelle Y, Bérubé D, Arden K, Cavenee W, Gagné R, Tanguay RM (March 1991). "Cloning and expression of the cDNA encoding human fumarylacetoacetate hydrolase, the enzyme deficient in hereditary tyrosinemia: assignment of the gene to chromosome 15". American Journal of Human Genetics. 48 (3): 525–35. PMC 1682993. PMID 1998338.
Agsteribbe E, van Faassen H, Hartog MV, Reversma T, Taanman JW, Pannekoek H, Evers RF, Welling GM, Berger R (April 1990). "Nucleotide sequence of cDNA encoding human fumarylacetoacetase". Nucleic Acids Research. 18 (7): 1887. doi:10.1093/nar/18.7.1887. PMC 330610. PMID 2336361.
"Entrez Gene: FAH fumarylacetoacetate hydrolase (fumarylacetoacetase)".
Tanguay RM, Valet JP, Lescault A, Duband JL, Laberge C, Lettre F, Plante M (August 1990). "Different molecular basis for fumarylacetoacetate hydrolase deficiency in the two clinical forms of hereditary tyrosinemia (type I)". American Journal of Human Genetics. 47 (2): 308–16. PMC 1683717. PMID 2378356.
Sniderman King L, Trahms C, Scott CR (July 2006). "Tyrosinemia Type I". In Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJ, Stephens K, Amemiya A (eds.). GeneReviews. Seattle: University of Washington. PMID 20301688.
Rootwelt H, Berger R, Gray G, Kelly DA, Coşkun T, Kvittingen EA (October 1994). "Novel splice, missense, and nonsense mutations in the fumarylacetoacetase gene causing tyrosinemia type 1". American Journal of Human Genetics. 55 (4): 653–8. PMC 1918286. PMID 7942842.
Phaneuf D, Lambert M, Laframboise R, Mitchell G, Lettre F, Tanguay RM (October 1992). "Type 1 hereditary tyrosinemia. Evidence for molecular heterogeneity and identification of a causal mutation in a French Canadian patient". The Journal of Clinical Investigation. 90 (4): 1185–92. doi:10.1172/JCI115979. PMC 443158. PMID 1401056.
Mohamed S, Kambal MA, Al Jurayyan NA, Al-Nemri A, Babiker A, Hasanato R, Al-Jarallah AS (September 2013). "Tyrosinemia type 1: a rare and forgotten cause of reversible hypertrophic cardiomyopathy in infancy". BMC Research Notes. 6: 362. doi:10.1186/1756-0500-6-362. PMC 3846631. PMID 24016420.
Chinsky JM, Singh R, Ficicioglu C, van Karnebeek CD, Grompe M, Mitchell G, Waisbren SE, Gucsavas-Calikoglu M, Wasserstein MP, Coakley K, Scott CR (December 2017). "Diagnosis and treatment of tyrosinemia type I: a US and Canadian consensus group review and recommendations". Genetics in Medicine. 19 (12): 1380–1395. doi:10.1038/gim.2017.101. PMC 5729346. PMID 28771246.

rarediseases.info.nih.gov

"Tyrosinemia type 1 | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program". rarediseases.info.nih.gov. Retrieved 2018-12-13.

omim.org

Online Mendelian Inheritance in Man (OMIM): Tyrosinemia, Type I; TYRSN1 - 276700

semanticscholar.org

api.semanticscholar.org

St-Louis, Maryse; Tanguay, Robert M. (1997). "Mutations in the fumarylacetoacetate hydrolase gene causing hereditary tyrosinemia type I: Overview". Human Mutation. 9 (4): 291–299. doi:10.1002/(sici)1098-1004(1997)9:4<291::aid-humu1>3.0.co;2-9. ISSN 1059-7794. PMID 9101289. S2CID 21881874.
Ploos van Amstel JK, Bergman AJ, van Beurden EA, Roijers JF, Peelen T, van den Berg IE, Poll-The BT, Kvittingen EA, Berger R (January 1996). "Hereditary tyrosinemia type 1: novel missense, nonsense and splice consensus mutations in the human fumarylacetoacetate hydrolase gene; variability of the genotype-phenotype relationship". Human Genetics. 97 (1): 51–9. doi:10.1007/BF00218833. PMID 8557261. S2CID 20070794.
Hahn SH, Krasnewich D, Brantly M, Kvittingen EA, Gahl WA (1995). "Heterozygosity for an exon 12 splicing mutation and a W234G missense mutation in an American child with chronic tyrosinemia type 1". Human Mutation. 6 (1): 66–73. doi:10.1002/humu.1380060113. PMID 7550234. S2CID 41460261.

uniprot.org

Universal protein resource accession number P16930 for "FAH - Fumarylacetoacetase - Homo sapiens (Human) - FAH gene & protein" at UniProt.

worldcat.org

search.worldcat.org

Kvittingen, E.A.; Jellum, E.; Stokke, O. (1981-09-24). "Assay of fumarylacetoacetate fumarylhydrolase in human liver—deficient activity in a case of hereditary tyrosinemia". Clinica Chimica Acta. 115 (3): 311–319. doi:10.1016/0009-8981(81)90244-8. ISSN 0009-8981. PMID 7296877.
St-Louis, Maryse; Tanguay, Robert M. (1997). "Mutations in the fumarylacetoacetate hydrolase gene causing hereditary tyrosinemia type I: Overview". Human Mutation. 9 (4): 291–299. doi:10.1002/(sici)1098-1004(1997)9:4<291::aid-humu1>3.0.co;2-9. ISSN 1059-7794. PMID 9101289. S2CID 21881874.

zenodo.org

Hahn SH, Krasnewich D, Brantly M, Kvittingen EA, Gahl WA (1995). "Heterozygosity for an exon 12 splicing mutation and a W234G missense mutation in an American child with chronic tyrosinemia type 1". Human Mutation. 6 (1): 66–73. doi:10.1002/humu.1380060113. PMID 7550234. S2CID 41460261.