萊希-尼亨症候群 (Chinese Wikipedia)

Analysis of information sources in references of the Wikipedia article "萊希-尼亨症候群" in Chinese language version.

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19web.archive.org

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10doi.org

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10nih.gov

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7lesch-nyhan.org

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2archive.org

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2wikipedia.org

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2tfrd.org.tw

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1juponline.pt

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1google.com.tw

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1ntnu.edu.tw

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1whonamedit.com

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1harvard.edu

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1portnews24.com

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1hk01.com

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1books.google.com

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1rarediseases.org

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1medscape.com

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1biomedcentral.com

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1aappublications.org

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1orpha.net

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aappublications.org

pediatrics.aappublications.org

Augoustides-Savvopoulou P, Papachristou F, Fairbanks LD, Dimitrakopoulos K, Marinaki AM, Simmonds HA. Partial hypoxanthine-Guanine phosphoribosyltransferase deficiency as the unsuspected cause of renal disease spanning three generations: a cautionary tale. Pediatrics. 2002, 109 (1): E17 [2019-08-20]. PMID 11773585. doi:10.1542/peds.109.1.e17. （原始内容存档于2021-08-28）（英语）.

archive.org

James, William D.; Berger, Timothy G.; et al. Andrews' Diseases of the Skin: clinical Dermatology. Saunders Elsevier. 2006: 546. ISBN 978-0-7216-2921-6 （英语）.
Kelley, WN; Greene, ML; Rosenbloom, FM; Henderson, JF; Seegmiller, JE. Hypoxanthine-guanine phosphoribosyltransferase deficiency in gout.. Annals of internal medicine. 1969-01, 70 (1): 155–206 [2019-08-21]. PMID 4884382. doi:10.7326/0003-4819-70-1-155 （英语）.

biomedcentral.com

ped-rheum.biomedcentral.com

SR Rodionovskaya. Description Kelley-Seegmiller syndrome (partial HPRT deficiency manifesting as a gout-urolithiasis syndrome) in a patient of 15 years old. BioMed Central. 2011-09-14 [2019-08-21]. （原始内容存档于2019-08-21）（英语）.

books.google.com

Gualtieri, C. Thomas. Brain injury and mental retardation : psychopharmacology and neuropsychiatry. Lippincott Williams & Wilkins. 2002: 257 [2019-08-20]. ISBN 0-7817-3473-8 （英语）.

doi.org

Lesch M, Nyhan WL. A familial disorder of uric acid metabolism and central nervous system function. Am J Med. 1964: 561–70. PMID 14142409. doi:10.1016/0002-9343(64)90104-4 （英语）.
Seegmiller JE, Rosenbloom FM, Kelley WN. Enzyme defect associated with a sex-linked human neurological disorder and excessive purine synthesis. Science. 1967, 155 (770): 1682–4. Bibcode:1967Sci...155.1682S. PMID 6020292. doi:10.1126/science.155.3770.1682 （英语）.
Kelley, WN; Greene, ML; Rosenbloom, FM; Henderson, JF; Seegmiller, JE. Hypoxanthine-guanine phosphoribosyltransferase deficiency in gout.. Annals of internal medicine. 1969-01, 70 (1): 155–206 [2019-08-21]. PMID 4884382. doi:10.7326/0003-4819-70-1-155 （英语）.
Hladnik U, Nyhan WL, Bertelli M. Variable expression of HPRT deficiency in 5 members of a family with the same mutation. Arch. Neurol. 2008-09, 65 (9): 1240–3. PMID 18779430. doi:10.1001/archneur.65.9.1240 （英语）.
Cauwels RG, Martens LC. Self-mutilation behaviour in Lesch–Nyhan syndrome. J. Oral Pathol. Med. 2005, 34 (9): 573–5. PMID 16138897. doi:10.1111/j.1600-0714.2005.00330.x （英语）.
Jinnah, HA; Ceballos-Picot, I; Torres, RJ; Visser, JE; Schretlen, DJ; Verdu, A; Laróvere, LE; Chen, CJ; Cossu, A; Wu, CH; Sampat, R; Chang, SJ; de Kremer, RD; Nyhan, W; Harris, JC; Reich, SG; Puig, JG; Lesch-Nyhan Disease International Study, Group. Attenuated variants of Lesch-Nyhan disease.. Brain : a journal of neurology. 2010-03, 133 (Pt 3): 671–89. PMID 20176575. doi:10.1093/brain/awq013 （英语）.
Chavarriaga, J; Ocampo, M; Fakih, N; Silva Herrera, J. Kelley-Seegmiller Syndrome: Urolithiasis, Renal Uric Acid Deposits, and Gout: What is the Role of the Urologist?. Urologia internationalis. 2019, 102 (2): 233–237. PMID 30384379. doi:10.1159/000494360 （英语）.
Augoustides-Savvopoulou P, Papachristou F, Fairbanks LD, Dimitrakopoulos K, Marinaki AM, Simmonds HA. Partial hypoxanthine-Guanine phosphoribosyltransferase deficiency as the unsuspected cause of renal disease spanning three generations: a cautionary tale. Pediatrics. 2002, 109 (1): E17 [2019-08-20]. PMID 11773585. doi:10.1542/peds.109.1.e17. （原始内容存档于2021-08-28）（英语）.
Tewari, Nitesh; Mathur, Vijay Prakash; Sardana, Divesh; Bansal, Kalpana. Lesch-Nyhan syndrome: The saga of metabolic abnormalities and self-injurious behavior. Intractable & Rare Diseases Research. 2017, 6 (1): 65–68. doi:10.5582/irdr.2016.01076 （英语）.
Jonathan W. Mink; Terence D. Sanger. Movement Disorders. Swaiman's Pediatric Neurology: Principles and Practice: Sixth Edition. 2017-12: 706–17. doi:10.1016/B978-0-323-37101-8.00093-X （英语）.

google.com.tw

books.google.com.tw

王希成. 15. 許宸瑞 (编). Biochemistry生物化學. 五南書局. 2004-09: 521 [2019-08-20]. ISBN 9789571136721.

harvard.edu

ui.adsabs.harvard.edu

Seegmiller JE, Rosenbloom FM, Kelley WN. Enzyme defect associated with a sex-linked human neurological disorder and excessive purine synthesis. Science. 1967, 155 (770): 1682–4. Bibcode:1967Sci...155.1682S. PMID 6020292. doi:10.1126/science.155.3770.1682 （英语）.

hk01.com

姜庚宇. 【基因病變】江蘇家族男嬰全夭折　自毀容貌症咬爛嘴唇手指如撞邪. 香港01. 2019-03-06 [2019-08-20]. （原始内容存档于2019-08-20）.

juponline.pt

Álvaro Paralta. BOLETIM MÉDICO: SÍNDROME LESCH-NYHAN. Jornal Universitário do Porto. 2019-02-27 [2019-08-20]. （原始内容存档于2019-08-20）（葡萄牙语）.

lesch-nyhan.org

History. Lesch-Nyhan.org. [2019-08-20]. （原始内容存档于2019-11-25）（英语）.
HPRT gene. Lesch-Nyhan.org. [2019-08-21]. （原始内容存档于2019-10-01）（英语）.
Confirmatory testing. Lesch-Nyhan.org. [2019-08-21]. （原始内容存档于2019-11-25）（英语）.
Uric acid overproduction. Lesch-Nyhan.org. [2019-08-21]. （原始内容存档于2019-11-25）（英语）.
Neurological disability. Lesch-Nyhan.org. [2019-08-21]. （原始内容存档于2019-11-25）（英语）.
Behavior problems. Lesch-Nyhan.org. [2019-08-21]. （原始内容存档于2019-11-25）（英语）.
Diet and eating. Lesch-Nyhan.org. [2019-08-21]. （原始内容存档于2019-11-25）（英语）.

medscape.com

emedicine.medscape.com

H A Jinnah. Lesch-Nyhan Disease. Medscape. [2019-08-20]. （原始内容存档于2019-07-15）（英语）.

nih.gov

ncbi.nlm.nih.gov

Lesch M, Nyhan WL. A familial disorder of uric acid metabolism and central nervous system function. Am J Med. 1964: 561–70. PMID 14142409. doi:10.1016/0002-9343(64)90104-4 （英语）.
Seegmiller JE, Rosenbloom FM, Kelley WN. Enzyme defect associated with a sex-linked human neurological disorder and excessive purine synthesis. Science. 1967, 155 (770): 1682–4. Bibcode:1967Sci...155.1682S. PMID 6020292. doi:10.1126/science.155.3770.1682 （英语）.
Kelley, WN; Greene, ML; Rosenbloom, FM; Henderson, JF; Seegmiller, JE. Hypoxanthine-guanine phosphoribosyltransferase deficiency in gout.. Annals of internal medicine. 1969-01, 70 (1): 155–206 [2019-08-21]. PMID 4884382. doi:10.7326/0003-4819-70-1-155 （英语）.
Hladnik U, Nyhan WL, Bertelli M. Variable expression of HPRT deficiency in 5 members of a family with the same mutation. Arch. Neurol. 2008-09, 65 (9): 1240–3. PMID 18779430. doi:10.1001/archneur.65.9.1240 （英语）.
Cauwels RG, Martens LC. Self-mutilation behaviour in Lesch–Nyhan syndrome. J. Oral Pathol. Med. 2005, 34 (9): 573–5. PMID 16138897. doi:10.1111/j.1600-0714.2005.00330.x （英语）.
Jinnah, HA; Ceballos-Picot, I; Torres, RJ; Visser, JE; Schretlen, DJ; Verdu, A; Laróvere, LE; Chen, CJ; Cossu, A; Wu, CH; Sampat, R; Chang, SJ; de Kremer, RD; Nyhan, W; Harris, JC; Reich, SG; Puig, JG; Lesch-Nyhan Disease International Study, Group. Attenuated variants of Lesch-Nyhan disease.. Brain : a journal of neurology. 2010-03, 133 (Pt 3): 671–89. PMID 20176575. doi:10.1093/brain/awq013 （英语）.
Chavarriaga, J; Ocampo, M; Fakih, N; Silva Herrera, J. Kelley-Seegmiller Syndrome: Urolithiasis, Renal Uric Acid Deposits, and Gout: What is the Role of the Urologist?. Urologia internationalis. 2019, 102 (2): 233–237. PMID 30384379. doi:10.1159/000494360 （英语）.
Augoustides-Savvopoulou P, Papachristou F, Fairbanks LD, Dimitrakopoulos K, Marinaki AM, Simmonds HA. Partial hypoxanthine-Guanine phosphoribosyltransferase deficiency as the unsuspected cause of renal disease spanning three generations: a cautionary tale. Pediatrics. 2002, 109 (1): E17 [2019-08-20]. PMID 11773585. doi:10.1542/peds.109.1.e17. （原始内容存档于2021-08-28）（英语）.

ghr.nlm.nih.gov

Lesch-Nyhan syndrome. 美國國家醫學圖書館. [2019-08-20]. （原始内容存档于2019-08-20）（英语）.

ninds.nih.gov

美國國家神經疾病及中風研究院（英语：NINDS）上有關lesch_nyhan的資料（英文）

ntnu.edu.tw

se.spc.ntnu.edu.tw

黃富廷. 萊希－尼亨症候群簡介. 全國特殊教育資訊網. [2019-08-20]. （原始内容存档于2019-08-20）.

orpha.net

Hypoxanthine guanine phosphoribosyltransferase partial deficiency. orphanet. [2019-08-21]. （原始内容存档于2017-04-17）（英语）.

portnews24.com

Lesch-Nyhan Syndrome Market to Garner Brimming Revenues by 2026. PortNews24. 2019-08-19 [2019-08-20]. （原始内容存档于2019-08-20）（英语）.

rarediseases.org

Lesch Nyhan Syndrome. 美國罕見疾病組織. [2019-08-21]. （原始内容存档于2019-08-21）（英语）.

tfrd.org.tw

web.tfrd.org.tw

罕見疾病一點通-疾病資料庫. 財團法人罕見疾病基金會. [2019-08-20]. （原始内容存档于2019-09-15）.

tfrd.org.tw

萊希－尼亨症候群. 財團法人罕見疾病基金會. [2019-08-20]. （原始内容存档于2019-08-20）.

web.archive.org

Álvaro Paralta. BOLETIM MÉDICO: SÍNDROME LESCH-NYHAN. Jornal Universitário do Porto. 2019-02-27 [2019-08-20]. （原始内容存档于2019-08-20）（葡萄牙语）.
罕見疾病一點通-疾病資料庫. 財團法人罕見疾病基金會. [2019-08-20]. （原始内容存档于2019-09-15）.
Lesch-Nyhan syndrome. 美國國家醫學圖書館. [2019-08-20]. （原始内容存档于2019-08-20）（英语）.
黃富廷. 萊希－尼亨症候群簡介. 全國特殊教育資訊網. [2019-08-20]. （原始内容存档于2019-08-20）.
萊希－尼亨症候群. 財團法人罕見疾病基金會. [2019-08-20]. （原始内容存档于2019-08-20）.
History. Lesch-Nyhan.org. [2019-08-20]. （原始内容存档于2019-11-25）（英语）.
HPRT gene. Lesch-Nyhan.org. [2019-08-21]. （原始内容存档于2019-10-01）（英语）.
Lesch-Nyhan Syndrome Market to Garner Brimming Revenues by 2026. PortNews24. 2019-08-19 [2019-08-20]. （原始内容存档于2019-08-20）（英语）.
姜庚宇. 【基因病變】江蘇家族男嬰全夭折　自毀容貌症咬爛嘴唇手指如撞邪. 香港01. 2019-03-06 [2019-08-20]. （原始内容存档于2019-08-20）.
Lesch Nyhan Syndrome. 美國罕見疾病組織. [2019-08-21]. （原始内容存档于2019-08-21）（英语）.
H A Jinnah. Lesch-Nyhan Disease. Medscape. [2019-08-20]. （原始内容存档于2019-07-15）（英语）.
SR Rodionovskaya. Description Kelley-Seegmiller syndrome (partial HPRT deficiency manifesting as a gout-urolithiasis syndrome) in a patient of 15 years old. BioMed Central. 2011-09-14 [2019-08-21]. （原始内容存档于2019-08-21）（英语）.
Augoustides-Savvopoulou P, Papachristou F, Fairbanks LD, Dimitrakopoulos K, Marinaki AM, Simmonds HA. Partial hypoxanthine-Guanine phosphoribosyltransferase deficiency as the unsuspected cause of renal disease spanning three generations: a cautionary tale. Pediatrics. 2002, 109 (1): E17 [2019-08-20]. PMID 11773585. doi:10.1542/peds.109.1.e17. （原始内容存档于2021-08-28）（英语）.
Confirmatory testing. Lesch-Nyhan.org. [2019-08-21]. （原始内容存档于2019-11-25）（英语）.
Uric acid overproduction. Lesch-Nyhan.org. [2019-08-21]. （原始内容存档于2019-11-25）（英语）.
Neurological disability. Lesch-Nyhan.org. [2019-08-21]. （原始内容存档于2019-11-25）（英语）.
Behavior problems. Lesch-Nyhan.org. [2019-08-21]. （原始内容存档于2019-11-25）（英语）.
Hypoxanthine guanine phosphoribosyltransferase partial deficiency. orphanet. [2019-08-21]. （原始内容存档于2017-04-17）（英语）.
Diet and eating. Lesch-Nyhan.org. [2019-08-21]. （原始内容存档于2019-11-25）（英语）.

whonamedit.com

Ole Daniel Enersen（英语：Ole Daniel Enersen）. Lesch-Nyhan syndrome - Who Named It?（英文）

wikipedia.org

en.wikipedia.org

美國國家神經疾病及中風研究院（英语：NINDS）上有關lesch_nyhan的資料（英文）
Ole Daniel Enersen（英语：Ole Daniel Enersen）. Lesch-Nyhan syndrome - Who Named It?（英文）