Lysinuric protein intolerance (English Wikipedia)

Analysis of information sources in references of the Wikipedia article "Lysinuric protein intolerance" in English language version.

refsWebsite

Global rank English rank

15doi.org

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9nih.gov

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2worldcat.org

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1omim.org

4,380^th place

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1semanticscholar.org

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doi.org

Simell O, Perheentupa J, Rapola J, Visakorpi JK, Eskelin LE (August 1975). "Lysinuric protein intolerance" (Free full text). The American Journal of Medicine. 59 (2): 229–240. doi:10.1016/0002-9343(75)90358-7. PMID 1155480.
Simell, O. (1990), "Lysinuric Protein Intolerance", Inborn Metabolic Diseases, Berlin, Heidelberg: Springer Berlin Heidelberg, pp. 577–583, doi:10.1007/978-3-662-02613-7_44, ISBN 978-3-662-02615-1, retrieved 2024-07-22
Simell, O. (1990), "Lysinuric Protein Intolerance", Inborn Metabolic Diseases, Berlin, Heidelberg: Springer Berlin Heidelberg, pp. 577–583, doi:10.1007/978-3-662-02613-7_44, ISBN 978-3-662-02615-1, retrieved 2024-07-22
Borsani G, Bassi MT, Sperandeo MP, et al. (March 1999). "SLC7A7, encoding a putative permease-related protein, is mutated in patients with lysinuric protein intolerance". Nat. Genet. 21 (3): 297–301. doi:10.1038/6815. PMID 10080183. S2CID 38960307.
Borsani, Giuseppe; Bassi, Maria Teresa; Sperandeo, Maria Pia; Grandi, Alessandro De; Buoninconti, Anna; Riboni, Mirko; Manzoni, Marta; Incerti, Barbara; Pepe, Antonio; Andria, Generoso; Ballabio, Andrea; Sebastio, Gianfranco (March 1999). "SLC7A7, encoding a putative permease-related protein, is mutated in patients with lysinuric protein intolerance". Nature Genetics. 21 (3): 297–301. doi:10.1038/6815. ISSN 1061-4036. PMID 10080183.
Douda, David N; Farmakovski, Nicole; Dell, Sharon; Grasemann, Hartmut; Palaniyar, Nades (December 2009). "SP-D counteracts GM-CSF-mediated increase of granuloma formation by alveolar macrophages in lysinuric protein intolerance". Orphanet Journal of Rare Diseases. 4 (1): 29. doi:10.1186/1750-1172-4-29. ISSN 1750-1172. PMC 2807424. PMID 20030831.
Sebastio, Gianfranco; Schiff, Manuel; de Baulny, Hélène Ogier (September 2016). "Lysinuric Protein Intolerance and Hartnup Disease". Oxford Medicine Online. doi:10.1093/med/9780199972135.003.0025.
Sebastio, Gianfranco; Schiff, Manuel; de Baulny, Hélène Ogier (September 2016). "Lysinuric Protein Intolerance and Hartnup Disease". Oxford Medicine Online. doi:10.1093/med/9780199972135.003.0025.
Tanner LM, Näntö-Salonen K, Niinikoski H, et al. (June 2007). "Nephropathy advancing to end-stage renal disease: a novel complication of lysinuric protein intolerance". J. Pediatr. 150 (6): 161–164. doi:10.1016/j.jpeds.2007.01.043. PMID 17517249.
Tanner LM, Näntö-Salonen K, Niinikoski H, et al. (February 2006). "Hazards associated with pregnancies and deliveries in lysinuric protein intolerance". Metabolism. 55 (2): 224–231. doi:10.1016/j.metabol.2005.08.016. PMID 16423630.

dx.doi.org

Simell, O. (1990), "Lysinuric Protein Intolerance", Inborn Metabolic Diseases, Berlin, Heidelberg: Springer Berlin Heidelberg, pp. 577–583, doi:10.1007/978-3-662-02613-7_44, ISBN 978-3-662-02615-1, retrieved 2024-07-22
Simell, O. (1990), "Lysinuric Protein Intolerance", Inborn Metabolic Diseases, Berlin, Heidelberg: Springer Berlin Heidelberg, pp. 577–583, doi:10.1007/978-3-662-02613-7_44, ISBN 978-3-662-02615-1, retrieved 2024-07-22
Borsani, Giuseppe; Bassi, Maria Teresa; Sperandeo, Maria Pia; Grandi, Alessandro De; Buoninconti, Anna; Riboni, Mirko; Manzoni, Marta; Incerti, Barbara; Pepe, Antonio; Andria, Generoso; Ballabio, Andrea; Sebastio, Gianfranco (March 1999). "SLC7A7, encoding a putative permease-related protein, is mutated in patients with lysinuric protein intolerance". Nature Genetics. 21 (3): 297–301. doi:10.1038/6815. ISSN 1061-4036. PMID 10080183.
Sebastio, Gianfranco; Schiff, Manuel; de Baulny, Hélène Ogier (September 2016). "Lysinuric Protein Intolerance and Hartnup Disease". Oxford Medicine Online. doi:10.1093/med/9780199972135.003.0025.
Sebastio, Gianfranco; Schiff, Manuel; de Baulny, Hélène Ogier (September 2016). "Lysinuric Protein Intolerance and Hartnup Disease". Oxford Medicine Online. doi:10.1093/med/9780199972135.003.0025.

nih.gov

pubmed.ncbi.nlm.nih.gov

Simell O, Perheentupa J, Rapola J, Visakorpi JK, Eskelin LE (August 1975). "Lysinuric protein intolerance" (Free full text). The American Journal of Medicine. 59 (2): 229–240. doi:10.1016/0002-9343(75)90358-7. PMID 1155480.
Borsani G, Bassi MT, Sperandeo MP, et al. (March 1999). "SLC7A7, encoding a putative permease-related protein, is mutated in patients with lysinuric protein intolerance". Nat. Genet. 21 (3): 297–301. doi:10.1038/6815. PMID 10080183. S2CID 38960307.
Borsani, Giuseppe; Bassi, Maria Teresa; Sperandeo, Maria Pia; Grandi, Alessandro De; Buoninconti, Anna; Riboni, Mirko; Manzoni, Marta; Incerti, Barbara; Pepe, Antonio; Andria, Generoso; Ballabio, Andrea; Sebastio, Gianfranco (March 1999). "SLC7A7, encoding a putative permease-related protein, is mutated in patients with lysinuric protein intolerance". Nature Genetics. 21 (3): 297–301. doi:10.1038/6815. ISSN 1061-4036. PMID 10080183.
Douda, David N; Farmakovski, Nicole; Dell, Sharon; Grasemann, Hartmut; Palaniyar, Nades (December 2009). "SP-D counteracts GM-CSF-mediated increase of granuloma formation by alveolar macrophages in lysinuric protein intolerance". Orphanet Journal of Rare Diseases. 4 (1): 29. doi:10.1186/1750-1172-4-29. ISSN 1750-1172. PMC 2807424. PMID 20030831.
Tanner LM, Näntö-Salonen K, Niinikoski H, et al. (June 2007). "Nephropathy advancing to end-stage renal disease: a novel complication of lysinuric protein intolerance". J. Pediatr. 150 (6): 161–164. doi:10.1016/j.jpeds.2007.01.043. PMID 17517249.
Tanner LM, Näntö-Salonen K, Niinikoski H, et al. (February 2006). "Hazards associated with pregnancies and deliveries in lysinuric protein intolerance". Metabolism. 55 (2): 224–231. doi:10.1016/j.metabol.2005.08.016. PMID 16423630.

ncbi.nlm.nih.gov

Douda, David N; Farmakovski, Nicole; Dell, Sharon; Grasemann, Hartmut; Palaniyar, Nades (December 2009). "SP-D counteracts GM-CSF-mediated increase of granuloma formation by alveolar macrophages in lysinuric protein intolerance". Orphanet Journal of Rare Diseases. 4 (1): 29. doi:10.1186/1750-1172-4-29. ISSN 1750-1172. PMC 2807424. PMID 20030831.
Nunes, Virginia; Niinikoski, Harri (1993). "Lysinuric Protein Intolerance". GeneReviews®. University of Washington, Seattle. Retrieved 26 September 2024.

toxnet.nlm.nih.gov

Simell O, Perheentupa J, Rapola J, Visakorpi JK, Eskelin LE (August 1975). "Lysinuric protein intolerance" (Free full text). The American Journal of Medicine. 59 (2): 229–240. doi:10.1016/0002-9343(75)90358-7. PMID 1155480.

omim.org

Online Mendelian Inheritance in Man (OMIM): 222700

semanticscholar.org

api.semanticscholar.org

Borsani G, Bassi MT, Sperandeo MP, et al. (March 1999). "SLC7A7, encoding a putative permease-related protein, is mutated in patients with lysinuric protein intolerance". Nat. Genet. 21 (3): 297–301. doi:10.1038/6815. PMID 10080183. S2CID 38960307.

worldcat.org

search.worldcat.org

Borsani, Giuseppe; Bassi, Maria Teresa; Sperandeo, Maria Pia; Grandi, Alessandro De; Buoninconti, Anna; Riboni, Mirko; Manzoni, Marta; Incerti, Barbara; Pepe, Antonio; Andria, Generoso; Ballabio, Andrea; Sebastio, Gianfranco (March 1999). "SLC7A7, encoding a putative permease-related protein, is mutated in patients with lysinuric protein intolerance". Nature Genetics. 21 (3): 297–301. doi:10.1038/6815. ISSN 1061-4036. PMID 10080183.
Douda, David N; Farmakovski, Nicole; Dell, Sharon; Grasemann, Hartmut; Palaniyar, Nades (December 2009). "SP-D counteracts GM-CSF-mediated increase of granuloma formation by alveolar macrophages in lysinuric protein intolerance". Orphanet Journal of Rare Diseases. 4 (1): 29. doi:10.1186/1750-1172-4-29. ISSN 1750-1172. PMC 2807424. PMID 20030831.