Tyrosinemia type I (English Wikipedia)

Analysis of information sources in references of the Wikipedia article "Tyrosinemia type I" in English language version.

refsWebsite

Global rank English rank

13nih.gov

4^th place

8doi.org

2^nd place

2worldcat.org

5^th place

2rarediseases.org

5,181^st place

3,260^th place

2semanticscholar.org

11^th place

8^th place

1bmj.com

1,226^th place

1,421^st place

1ohsu.edu

low place

1web.archive.org

1^st place

1aminoacidsguide.com

low place

1medlink.com

low place

1nature.com

234^th place

397^th place

1handle.net

102^nd place

76^th place

1centerwatch.com

low place

aminoacidsguide.com

"Tyrosine - structure, properties, function, benefits". aminoacidsguide.com. Retrieved 2020-05-02.

bmj.com

Chakrapani A, Holme E (2006). "Disorders of Tyrosine Metabolism". In Fernandes J, Saudubray JM, van den Berghe G, Walter JH (eds.). Inborn Metabolic Diseases. Springer. pp. 233–243. doi:10.1007/978-3-540-28785-8_18. ISBN 978-3-540-28785-8.

centerwatch.com

"Tyrosinemia Clinical Trials". wcg CenterWatch.

doi.org

de Laet C, Dionisi-Vici C, Leonard JV, McKiernan P, Mitchell G, Monti L, et al. (January 2013). "Recommendations for the management of tyrosinaemia type 1". Orphanet Journal of Rare Diseases. 8: 8. doi:10.1186/1750-1172-8-8. PMC 3558375. PMID 23311542.
Chakrapani A, Holme E (2006). "Disorders of Tyrosine Metabolism". In Fernandes J, Saudubray JM, van den Berghe G, Walter JH (eds.). Inborn Metabolic Diseases. Springer. pp. 233–243. doi:10.1007/978-3-540-28785-8_18. ISBN 978-3-540-28785-8.
Enns GM, Packman S (2001). "Diagnosing Inborn Errors of Metabolism in the Newborn: Clinical Features" (PDF). NeoReviews. 2 (8): e183 – e191. doi:10.1542/neo.2-8-e183. ISSN 1526-9906.^{[permanent dead link]}
Thimm E, Richter-Werkle R, Kamp G, Molke B, Herebian D, Klee D, et al. (March 2012). "Neurocognitive outcome in patients with hypertyrosinemia type I after long-term treatment with NTBC". Journal of Inherited Metabolic Disease. 35 (2): 263–8. doi:10.1007/s10545-011-9394-5. PMID 22069142. S2CID 23783926.
Das AM (2017-07-24). "Clinical utility of nitisinone for the treatment of hereditary tyrosinemia type-1 (HT-1)". The Application of Clinical Genetics. 10: 43–48. doi:10.2147/TACG.S113310. PMC 5533484. PMID 28769581.
Lock EA, Ellis MK, Gaskin P, Robinson M, Auton TR, Provan WM, et al. (August 1998). "From toxicological problem to therapeutic use: the discovery of the mode of action of 2-(2-nitro-4-trifluoromethylbenzoyl)-1,3-cyclohexanedione (NTBC), its toxicology and development as a drug". Journal of Inherited Metabolic Disease. 21 (5): 498–506. doi:10.1023/a:1005458703363. PMID 9728330. S2CID 6717818.
Grompe M, St-Louis M, Demers SI, al-Dhalimy M, Leclerc B, Tanguay RM (August 1994). "A single mutation of the fumarylacetoacetate hydrolase gene in French Canadians with hereditary tyrosinemia type I". The New England Journal of Medicine. 331 (6): 353–7. doi:10.1056/NEJM199408113310603. PMID 8028615.
Yin, Hao; Xue, Wen; Chen, Sidi; Bogorad, Roman L.; Benedetti, Eric; Grompe, Markus; Koteliansky, Victor; Sharp, Phillip A.; Jacks, Tyler; Anderson, Daniel G. (March 2014). "Genome editing with Cas9 in adult mice corrects a disease mutation and phenotype". Nature Biotechnology. 32 (6): 551–553. doi:10.1038/nbt.2884. hdl:1721.1/97197. ISSN 1546-1696. PMC 4157757. Retrieved 3 October 2023.

handle.net

hdl.handle.net

Yin, Hao; Xue, Wen; Chen, Sidi; Bogorad, Roman L.; Benedetti, Eric; Grompe, Markus; Koteliansky, Victor; Sharp, Phillip A.; Jacks, Tyler; Anderson, Daniel G. (March 2014). "Genome editing with Cas9 in adult mice corrects a disease mutation and phenotype". Nature Biotechnology. 32 (6): 551–553. doi:10.1038/nbt.2884. hdl:1721.1/97197. ISSN 1546-1696. PMC 4157757. Retrieved 3 October 2023.

medlink.com

"Hepatorenal Tyrosinemia". MedLink Neurology. Retrieved 2020-05-01.

nature.com

Yin, Hao; Xue, Wen; Chen, Sidi; Bogorad, Roman L.; Benedetti, Eric; Grompe, Markus; Koteliansky, Victor; Sharp, Phillip A.; Jacks, Tyler; Anderson, Daniel G. (March 2014). "Genome editing with Cas9 in adult mice corrects a disease mutation and phenotype". Nature Biotechnology. 32 (6): 551–553. doi:10.1038/nbt.2884. hdl:1721.1/97197. ISSN 1546-1696. PMC 4157757. Retrieved 3 October 2023.

nih.gov

pubmed.ncbi.nlm.nih.gov

de Laet C, Dionisi-Vici C, Leonard JV, McKiernan P, Mitchell G, Monti L, et al. (January 2013). "Recommendations for the management of tyrosinaemia type 1". Orphanet Journal of Rare Diseases. 8: 8. doi:10.1186/1750-1172-8-8. PMC 3558375. PMID 23311542.
Paradis K (October 1996). "Tyrosinemia: the Quebec experience". Clinical and Investigative Medicine. 19 (5): 311–6. PMID 8889268.
"Clinical Review Report: Nitisinone (Orfadin): (Sobi Canada Inc.): Indication: For the treatment of patients with hereditary tyrosinemia type 1 in combination with dietary restriction of tyrosine and phenylalanine". CADTH Common Drug Reviews. Ottawa (ON): Canadian Agency for Drugs and Technologies in Health. 2018. PMID 30457777.
Thimm E, Richter-Werkle R, Kamp G, Molke B, Herebian D, Klee D, et al. (March 2012). "Neurocognitive outcome in patients with hypertyrosinemia type I after long-term treatment with NTBC". Journal of Inherited Metabolic Disease. 35 (2): 263–8. doi:10.1007/s10545-011-9394-5. PMID 22069142. S2CID 23783926.
Das AM (2017-07-24). "Clinical utility of nitisinone for the treatment of hereditary tyrosinemia type-1 (HT-1)". The Application of Clinical Genetics. 10: 43–48. doi:10.2147/TACG.S113310. PMC 5533484. PMID 28769581.
Lock EA, Ellis MK, Gaskin P, Robinson M, Auton TR, Provan WM, et al. (August 1998). "From toxicological problem to therapeutic use: the discovery of the mode of action of 2-(2-nitro-4-trifluoromethylbenzoyl)-1,3-cyclohexanedione (NTBC), its toxicology and development as a drug". Journal of Inherited Metabolic Disease. 21 (5): 498–506. doi:10.1023/a:1005458703363. PMID 9728330. S2CID 6717818.
Grompe M, St-Louis M, Demers SI, al-Dhalimy M, Leclerc B, Tanguay RM (August 1994). "A single mutation of the fumarylacetoacetate hydrolase gene in French Canadians with hereditary tyrosinemia type I". The New England Journal of Medicine. 331 (6): 353–7. doi:10.1056/NEJM199408113310603. PMID 8028615.
Laberge C, Dallaire L (October 1967). "Genetic aspects of tyrosinemia in the Chicoutimi region". Canadian Medical Association Journal. 97 (18): 1099–101. PMC 1923580. PMID 6057677.

ncbi.nlm.nih.gov

de Laet C, Dionisi-Vici C, Leonard JV, McKiernan P, Mitchell G, Monti L, et al. (January 2013). "Recommendations for the management of tyrosinaemia type 1". Orphanet Journal of Rare Diseases. 8: 8. doi:10.1186/1750-1172-8-8. PMC 3558375. PMID 23311542.
"Clinical Review Report: Nitisinone (Orfadin): (Sobi Canada Inc.): Indication: For the treatment of patients with hereditary tyrosinemia type 1 in combination with dietary restriction of tyrosine and phenylalanine". CADTH Common Drug Reviews. Ottawa (ON): Canadian Agency for Drugs and Technologies in Health. 2018. PMID 30457777.
Das AM (2017-07-24). "Clinical utility of nitisinone for the treatment of hereditary tyrosinemia type-1 (HT-1)". The Application of Clinical Genetics. 10: 43–48. doi:10.2147/TACG.S113310. PMC 5533484. PMID 28769581.
Laberge C, Dallaire L (October 1967). "Genetic aspects of tyrosinemia in the Chicoutimi region". Canadian Medical Association Journal. 97 (18): 1099–101. PMC 1923580. PMID 6057677.
Yin, Hao; Xue, Wen; Chen, Sidi; Bogorad, Roman L.; Benedetti, Eric; Grompe, Markus; Koteliansky, Victor; Sharp, Phillip A.; Jacks, Tyler; Anderson, Daniel G. (March 2014). "Genome editing with Cas9 in adult mice corrects a disease mutation and phenotype". Nature Biotechnology. 32 (6): 551–553. doi:10.1038/nbt.2884. hdl:1721.1/97197. ISSN 1546-1696. PMC 4157757. Retrieved 3 October 2023.

ohsu.edu

Enns GM, Packman S (2001). "Diagnosing Inborn Errors of Metabolism in the Newborn: Clinical Features" (PDF). NeoReviews. 2 (8): e183 – e191. doi:10.1542/neo.2-8-e183. ISSN 1526-9906.^{[permanent dead link]}

rarediseases.org

"Physician's Guide to Tyrosinemia Type 1" (PDF). National Organization for Rare Disorders. Archived from the original (PDF) on 2014-02-11.
"Tyrosinemia Type 1". NORD (National Organization for Rare Disorders). Retrieved 2020-05-01.

semanticscholar.org

api.semanticscholar.org

Thimm E, Richter-Werkle R, Kamp G, Molke B, Herebian D, Klee D, et al. (March 2012). "Neurocognitive outcome in patients with hypertyrosinemia type I after long-term treatment with NTBC". Journal of Inherited Metabolic Disease. 35 (2): 263–8. doi:10.1007/s10545-011-9394-5. PMID 22069142. S2CID 23783926.
Lock EA, Ellis MK, Gaskin P, Robinson M, Auton TR, Provan WM, et al. (August 1998). "From toxicological problem to therapeutic use: the discovery of the mode of action of 2-(2-nitro-4-trifluoromethylbenzoyl)-1,3-cyclohexanedione (NTBC), its toxicology and development as a drug". Journal of Inherited Metabolic Disease. 21 (5): 498–506. doi:10.1023/a:1005458703363. PMID 9728330. S2CID 6717818.

web.archive.org

"Physician's Guide to Tyrosinemia Type 1" (PDF). National Organization for Rare Disorders. Archived from the original (PDF) on 2014-02-11.

worldcat.org

search.worldcat.org

Enns GM, Packman S (2001). "Diagnosing Inborn Errors of Metabolism in the Newborn: Clinical Features" (PDF). NeoReviews. 2 (8): e183 – e191. doi:10.1542/neo.2-8-e183. ISSN 1526-9906.^{[permanent dead link]}
Yin, Hao; Xue, Wen; Chen, Sidi; Bogorad, Roman L.; Benedetti, Eric; Grompe, Markus; Koteliansky, Victor; Sharp, Phillip A.; Jacks, Tyler; Anderson, Daniel G. (March 2014). "Genome editing with Cas9 in adult mice corrects a disease mutation and phenotype". Nature Biotechnology. 32 (6): 551–553. doi:10.1038/nbt.2884. hdl:1721.1/97197. ISSN 1546-1696. PMC 4157757. Retrieved 3 October 2023.