Niemann–Pick disease (English Wikipedia)

Analysis of information sources in references of the Wikipedia article "Niemann–Pick disease" in English language version.

refsWebsite

Global rank English rank

28nih.gov

4^th place

15doi.org

2^nd place

4europa.eu

68^th place

117^th place

3web.archive.org

1^st place

3worldcat.org

5^th place

3fda.gov

447^th place

338^th place

2mayoclinic.org

1,610^th place

1,279^th place

2medscape.com

719^th place

636^th place

2omim.org

4,380^th place

4,305^th place

2semanticscholar.org

11^th place

8^th place

2harvard.edu

18^th place

17^th place

2clinicaltrials.gov

5,225^th place

4,062^nd place

1oed.com

360^th place

231^st place

1rarediseases.org

5,181^st place

3,260^th place

1drugs.com

399^th place

333^rd place

1sanofi.com

low place

1whonamedit.com

2,888^th place

2,730^th place

clinicaltrials.gov

"Arimoclomol Prospective Study in Patients Diagnosed With NiemannPick Disease Type C - Full Text View - ClinicalTrials.gov". clinicaltrials.gov. 14 April 2021.
"Hydroxypropyl Beta Cyclodextrin for Niemann-Pick Type C1 Disease". ClinicalTrials.gov. NIH. 19 July 2021. Retrieved 10 January 2022.

doi.org

Vanier MT, Latour P (2015). "Laboratory diagnosis of Niemann–Pick disease type C: The filipin staining test". Lysosomes and Lysosomal Diseases. Methods in Cell Biology. Vol. 126. pp. 357–75. doi:10.1016/bs.mcb.2014.10.028. ISBN 9780128000793. PMID 25665455.
Schuchman EH, Wasserstein MP (2015). "Types a and B Niemann-Pick disease". Best Practice & Research Clinical Endocrinology & Metabolism. 29 (2): 237–247. doi:10.1016/j.beem.2014.10.002. PMC 5347465. PMID 25987176.
Uz E, Cipil H, Turgut FH, Kaya A, Kargili A, Bavbek N, et al. (November 2008). "Niemann-Pick disease type B presenting with hepatosplenomegaly and thrombocytopenia". South Med J. 101 (11): 1188. doi:10.1097/SMJ.0b013e3181836b4c. PMID 19088546.
McGovern MM, Lippa N, Bagiella E, Schuchman EH, Desnick RJ, Wasserstein MP (August 2013). "Morbidity and mortality in type B Niemann-Pick disease". Genet Med. 15 (8): 618–623. doi:10.1038/gim.2013.4. PMID 23412609.
Cassiman D, Packman S, Bembi B, Turkia HB, Al-Sayed M, Schiff M, et al. (July 2016). "Cause of death in patients with chronic visceral and chronic neurovisceral acid sphingomyelinase deficiency (Niemann-Pick disease type B and B variant): Literature review and report of new cases". Mol Genet Metab. 118 (3): 206–213. doi:10.1016/j.ymgme.2016.05.001. PMID 27198631.
Crocker AC (1961). "The Cerebral Defect in Tay-Sachs Disease and Niemann-Pick Disease". Journal of Neurochemistry. 7: 69–80. doi:10.1111/j.1471-4159.1961.tb13499.x. PMID 13696518. S2CID 22103848.
Yan X, Lukas J, Witt M, Wree A, Hübner R, Frech M, et al. (2011). "Decreased expression of myelin gene regulatory factor in Niemann-Pick type C 1 mouse". Metabolic Brain Disease. 26 (4): 299–306. doi:10.1007/s11011-011-9263-9. PMID 21938520. S2CID 26878522.
Koenning M, Jackson S, Hay CM, Faux C, Kilpatrick TJ, Willingham M, et al. (2012). "Myelin Gene Regulatory Factor is Required for Maintenance of Myelin and Mature Oligodendrocyte Identity in the Adult CNS". Journal of Neuroscience. 32 (36): 12528–12542. doi:10.1523/JNEUROSCI.1069-12.2012. PMC 3752083. PMID 22956843.
Carette JE, Raaben M, Wong AC, Herbert AS, Obernosterer G, Mulherkar N, et al. (2011). "Ebola virus entry requires the cholesterol transporter Niemann–Pick C1". Nature. 477 (7364): 340–343. Bibcode:2011Natur.477..340C. doi:10.1038/nature10348. PMC 3175325. PMID 21866103.
Côté M, Misasi J, Ren T, Bruchez A, Lee K, Filone CM, et al. (2011). "Small molecule inhibitors reveal Niemann–Pick C1 is essential for Ebola virus infection". Nature. 477 (7364): 344–348. Bibcode:2011Natur.477..344C. doi:10.1038/nature10380. PMC 3230319. PMID 21866101.
Camargo F, Erickson RP, Garver WS, Hossain G, Carbone PN, Heidenreich RA, et al. (2001). "Cyclodextrins in the treatment of a mouse model of Niemann-Pick C disease". Life Sciences. 70 (2): 131–142. doi:10.1016/S0024-3205(01)01384-4. PMID 11787939.
Liu B, Turley SD, Burns DK, Miller AM, Repa JJ, Dietschy JM (2009). "Reversal of defective lysosomal transport in NPC disease ameliorates liver dysfunction and neurodegeneration in the npc1-/- mouse". Proceedings of the National Academy of Sciences. 106 (7): 2377–2382. doi:10.1073/pnas.0810895106. PMC 2650164. PMID 19171898.
Hughes MP, Smith DA, Morris L, Fletcher C, Colaco A, Huebecker M, et al. (1 September 2018). "AAV9 intracerebroventricular gene therapy improves lifespan, locomotor function and pathology in a mouse model of Niemann–Pick type C1 disease". Human Molecular Genetics. 27 (17): 3079–3098. doi:10.1093/hmg/ddy212. ISSN 0964-6906. PMC 6097154. PMID 29878115.
Davidson CD, Gibson AL, Gu T, Baxter LL, Deverman BE, Beadle K, et al. (1 October 2021). "Improved systemic AAV gene therapy with a neurotrophic capsid in Niemann–Pick disease type C1 mice". Life Science Alliance. 4 (10): e202101040. doi:10.26508/lsa.202101040. ISSN 2575-1077. PMC 8380657. PMID 34407999.
Samaranch L, Pérez-Cañamás A, Soto-Huelin B, Sudhakar V, Jurado-Arjona J, Hadaczek P, et al. (21 August 2019). "Adeno-associated viral vector serotype 9–based gene therapy for Niemann-Pick disease type A". Science Translational Medicine. 11 (506): eaat3738. doi:10.1126/scitranslmed.aat3738. ISSN 1946-6234. PMC 7285630. PMID 31434754.

drugs.com

"Actelion receives FDA complete response letter for Zavesca (miglustat) for the treatment of Niemann-Pick type C disease". Drugs.com (Press release). 9 March 2010.

europa.eu

ema.europa.eu

"Zavesca EPAR". European Medicines Agency (EMA). 18 October 2000. Retrieved 25 September 2024.
"European Medicines Agency - - EU/3/14/1376". www.ema.europa.eu. 17 September 2018. Archived from the original on 28 July 2017. Retrieved 21 October 2016.
"EU/3/13/1124 | European Medicines Agency". European Medicines Agency. 17 September 2018. Retrieved 16 April 2021.

ec.europa.eu

"Miglustat Product information". Union Register of medicinal products. 21 November 2002. Retrieved 25 September 2024.

fda.gov

"FDA Approves First Treatment for Niemann-Pick Disease, Type C". U.S. Food and Drug Administration (FDA) (Press release). 20 September 2024. Retrieved 20 September 2024.
"FDA Approves New Drug to Treat Niemann-Pick Disease, Type C". U.S. Food and Drug Administration (Press release). 24 September 2024. Retrieved 25 September 2024. This article incorporates text from this source, which is in the public domain.

accessdata.fda.gov

"Search Orphan Drug Designations and Approvals". www.accessdata.fda.gov.

harvard.edu

ui.adsabs.harvard.edu

Carette JE, Raaben M, Wong AC, Herbert AS, Obernosterer G, Mulherkar N, et al. (2011). "Ebola virus entry requires the cholesterol transporter Niemann–Pick C1". Nature. 477 (7364): 340–343. Bibcode:2011Natur.477..340C. doi:10.1038/nature10348. PMC 3175325. PMID 21866103.
Côté M, Misasi J, Ren T, Bruchez A, Lee K, Filone CM, et al. (2011). "Small molecule inhibitors reveal Niemann–Pick C1 is essential for Ebola virus infection". Nature. 477 (7364): 344–348. Bibcode:2011Natur.477..344C. doi:10.1038/nature10380. PMC 3230319. PMID 21866101.

mayoclinic.org

medscape.com

emedicine.medscape.com

nih.gov

pubmed.ncbi.nlm.nih.gov

Vanier MT, Latour P (2015). "Laboratory diagnosis of Niemann–Pick disease type C: The filipin staining test". Lysosomes and Lysosomal Diseases. Methods in Cell Biology. Vol. 126. pp. 357–75. doi:10.1016/bs.mcb.2014.10.028. ISBN 9780128000793. PMID 25665455.
Schuchman EH, Wasserstein MP (2015). "Types a and B Niemann-Pick disease". Best Practice & Research Clinical Endocrinology & Metabolism. 29 (2): 237–247. doi:10.1016/j.beem.2014.10.002. PMC 5347465. PMID 25987176.
Uz E, Cipil H, Turgut FH, Kaya A, Kargili A, Bavbek N, et al. (November 2008). "Niemann-Pick disease type B presenting with hepatosplenomegaly and thrombocytopenia". South Med J. 101 (11): 1188. doi:10.1097/SMJ.0b013e3181836b4c. PMID 19088546.
McGovern MM, Lippa N, Bagiella E, Schuchman EH, Desnick RJ, Wasserstein MP (August 2013). "Morbidity and mortality in type B Niemann-Pick disease". Genet Med. 15 (8): 618–623. doi:10.1038/gim.2013.4. PMID 23412609.
Cassiman D, Packman S, Bembi B, Turkia HB, Al-Sayed M, Schiff M, et al. (July 2016). "Cause of death in patients with chronic visceral and chronic neurovisceral acid sphingomyelinase deficiency (Niemann-Pick disease type B and B variant): Literature review and report of new cases". Mol Genet Metab. 118 (3): 206–213. doi:10.1016/j.ymgme.2016.05.001. PMID 27198631.
Crocker AC (1961). "The Cerebral Defect in Tay-Sachs Disease and Niemann-Pick Disease". Journal of Neurochemistry. 7: 69–80. doi:10.1111/j.1471-4159.1961.tb13499.x. PMID 13696518. S2CID 22103848.
Patterson M (1993), Adam MP, Mirzaa GM, Pagon RA, Wallace SE (eds.), "Niemann-Pick Disease Type C", GeneReviews®, Seattle (WA): University of Washington, Seattle, PMID 20301473, retrieved 30 July 2023
Yan X, Lukas J, Witt M, Wree A, Hübner R, Frech M, et al. (2011). "Decreased expression of myelin gene regulatory factor in Niemann-Pick type C 1 mouse". Metabolic Brain Disease. 26 (4): 299–306. doi:10.1007/s11011-011-9263-9. PMID 21938520. S2CID 26878522.
Koenning M, Jackson S, Hay CM, Faux C, Kilpatrick TJ, Willingham M, et al. (2012). "Myelin Gene Regulatory Factor is Required for Maintenance of Myelin and Mature Oligodendrocyte Identity in the Adult CNS". Journal of Neuroscience. 32 (36): 12528–12542. doi:10.1523/JNEUROSCI.1069-12.2012. PMC 3752083. PMID 22956843.
Carette JE, Raaben M, Wong AC, Herbert AS, Obernosterer G, Mulherkar N, et al. (2011). "Ebola virus entry requires the cholesterol transporter Niemann–Pick C1". Nature. 477 (7364): 340–343. Bibcode:2011Natur.477..340C. doi:10.1038/nature10348. PMC 3175325. PMID 21866103.
Côté M, Misasi J, Ren T, Bruchez A, Lee K, Filone CM, et al. (2011). "Small molecule inhibitors reveal Niemann–Pick C1 is essential for Ebola virus infection". Nature. 477 (7364): 344–348. Bibcode:2011Natur.477..344C. doi:10.1038/nature10380. PMC 3230319. PMID 21866101.
Camargo F, Erickson RP, Garver WS, Hossain G, Carbone PN, Heidenreich RA, et al. (2001). "Cyclodextrins in the treatment of a mouse model of Niemann-Pick C disease". Life Sciences. 70 (2): 131–142. doi:10.1016/S0024-3205(01)01384-4. PMID 11787939.
Liu B, Turley SD, Burns DK, Miller AM, Repa JJ, Dietschy JM (2009). "Reversal of defective lysosomal transport in NPC disease ameliorates liver dysfunction and neurodegeneration in the npc1-/- mouse". Proceedings of the National Academy of Sciences. 106 (7): 2377–2382. doi:10.1073/pnas.0810895106. PMC 2650164. PMID 19171898.
Hughes MP, Smith DA, Morris L, Fletcher C, Colaco A, Huebecker M, et al. (1 September 2018). "AAV9 intracerebroventricular gene therapy improves lifespan, locomotor function and pathology in a mouse model of Niemann–Pick type C1 disease". Human Molecular Genetics. 27 (17): 3079–3098. doi:10.1093/hmg/ddy212. ISSN 0964-6906. PMC 6097154. PMID 29878115.
Davidson CD, Gibson AL, Gu T, Baxter LL, Deverman BE, Beadle K, et al. (1 October 2021). "Improved systemic AAV gene therapy with a neurotrophic capsid in Niemann–Pick disease type C1 mice". Life Science Alliance. 4 (10): e202101040. doi:10.26508/lsa.202101040. ISSN 2575-1077. PMC 8380657. PMID 34407999.
Samaranch L, Pérez-Cañamás A, Soto-Huelin B, Sudhakar V, Jurado-Arjona J, Hadaczek P, et al. (21 August 2019). "Adeno-associated viral vector serotype 9–based gene therapy for Niemann-Pick disease type A". Science Translational Medicine. 11 (506): eaat3738. doi:10.1126/scitranslmed.aat3738. ISSN 1946-6234. PMC 7285630. PMID 31434754.

ncbi.nlm.nih.gov

Schuchman EH, Wasserstein MP (2015). "Types a and B Niemann-Pick disease". Best Practice & Research Clinical Endocrinology & Metabolism. 29 (2): 237–247. doi:10.1016/j.beem.2014.10.002. PMC 5347465. PMID 25987176.
Patterson M (1993), Adam MP, Mirzaa GM, Pagon RA, Wallace SE (eds.), "Niemann-Pick Disease Type C", GeneReviews®, Seattle (WA): University of Washington, Seattle, PMID 20301473, retrieved 30 July 2023
Koenning M, Jackson S, Hay CM, Faux C, Kilpatrick TJ, Willingham M, et al. (2012). "Myelin Gene Regulatory Factor is Required for Maintenance of Myelin and Mature Oligodendrocyte Identity in the Adult CNS". Journal of Neuroscience. 32 (36): 12528–12542. doi:10.1523/JNEUROSCI.1069-12.2012. PMC 3752083. PMID 22956843.
Carette JE, Raaben M, Wong AC, Herbert AS, Obernosterer G, Mulherkar N, et al. (2011). "Ebola virus entry requires the cholesterol transporter Niemann–Pick C1". Nature. 477 (7364): 340–343. Bibcode:2011Natur.477..340C. doi:10.1038/nature10348. PMC 3175325. PMID 21866103.
Côté M, Misasi J, Ren T, Bruchez A, Lee K, Filone CM, et al. (2011). "Small molecule inhibitors reveal Niemann–Pick C1 is essential for Ebola virus infection". Nature. 477 (7364): 344–348. Bibcode:2011Natur.477..344C. doi:10.1038/nature10380. PMC 3230319. PMID 21866101.
Liu B, Turley SD, Burns DK, Miller AM, Repa JJ, Dietschy JM (2009). "Reversal of defective lysosomal transport in NPC disease ameliorates liver dysfunction and neurodegeneration in the npc1-/- mouse". Proceedings of the National Academy of Sciences. 106 (7): 2377–2382. doi:10.1073/pnas.0810895106. PMC 2650164. PMID 19171898.
Hughes MP, Smith DA, Morris L, Fletcher C, Colaco A, Huebecker M, et al. (1 September 2018). "AAV9 intracerebroventricular gene therapy improves lifespan, locomotor function and pathology in a mouse model of Niemann–Pick type C1 disease". Human Molecular Genetics. 27 (17): 3079–3098. doi:10.1093/hmg/ddy212. ISSN 0964-6906. PMC 6097154. PMID 29878115.
Davidson CD, Gibson AL, Gu T, Baxter LL, Deverman BE, Beadle K, et al. (1 October 2021). "Improved systemic AAV gene therapy with a neurotrophic capsid in Niemann–Pick disease type C1 mice". Life Science Alliance. 4 (10): e202101040. doi:10.26508/lsa.202101040. ISSN 2575-1077. PMC 8380657. PMID 34407999.
Samaranch L, Pérez-Cañamás A, Soto-Huelin B, Sudhakar V, Jurado-Arjona J, Hadaczek P, et al. (21 August 2019). "Adeno-associated viral vector serotype 9–based gene therapy for Niemann-Pick disease type A". Science Translational Medicine. 11 (506): eaat3738. doi:10.1126/scitranslmed.aat3738. ISSN 1946-6234. PMC 7285630. PMID 31434754.

ghr.nlm.nih.gov

"Neimann-Pick Disease". Genetics Home Reference. NIH. January 2008. Retrieved 2 October 2012.
"Niemann-Pick disease". Genetics Home Reference.

rarediseases.info.nih.gov

"Therapeutics for Rare and Neglected Diseases Program". U.S. National Institutes of Health. November 2017. Archived from the original on 9 April 2013. Retrieved 20 December 2011.

oed.com

"Niemann–Pick". Oxford English Dictionary (Online ed.). Oxford University Press. (Subscription or participating institution membership required.)

omim.org

"NIEMANN-PICK DISEASE, TYPE B". OMIM. 9 April 2019. 607616.
Online Mendelian Inheritance in Man (OMIM): Niemann–Pick Disease, Type C1; NPC1 - 257220

rarediseases.org

"Niemann Pick Disease Type C". National Organization for Rare Disorders.

sanofi.com

"Xenpozyme (olipudase alfa) approved in Japan, first and only approved therapy indicated to treat acid sphingomyelinase deficiency" (Press release). Sanofi. 28 March 2022. Archived from the original on 21 May 2022. Retrieved 20 May 2022.

semanticscholar.org

api.semanticscholar.org

Crocker AC (1961). "The Cerebral Defect in Tay-Sachs Disease and Niemann-Pick Disease". Journal of Neurochemistry. 7: 69–80. doi:10.1111/j.1471-4159.1961.tb13499.x. PMID 13696518. S2CID 22103848.
Yan X, Lukas J, Witt M, Wree A, Hübner R, Frech M, et al. (2011). "Decreased expression of myelin gene regulatory factor in Niemann-Pick type C 1 mouse". Metabolic Brain Disease. 26 (4): 299–306. doi:10.1007/s11011-011-9263-9. PMID 21938520. S2CID 26878522.

web.archive.org

"Xenpozyme (olipudase alfa) approved in Japan, first and only approved therapy indicated to treat acid sphingomyelinase deficiency" (Press release). Sanofi. 28 March 2022. Archived from the original on 21 May 2022. Retrieved 20 May 2022.
"European Medicines Agency - - EU/3/14/1376". www.ema.europa.eu. 17 September 2018. Archived from the original on 28 July 2017. Retrieved 21 October 2016.
"Therapeutics for Rare and Neglected Diseases Program". U.S. National Institutes of Health. November 2017. Archived from the original on 9 April 2013. Retrieved 20 December 2011.

whonamedit.com

synd/1029 at Who Named It?

worldcat.org

search.worldcat.org

Hughes MP, Smith DA, Morris L, Fletcher C, Colaco A, Huebecker M, et al. (1 September 2018). "AAV9 intracerebroventricular gene therapy improves lifespan, locomotor function and pathology in a mouse model of Niemann–Pick type C1 disease". Human Molecular Genetics. 27 (17): 3079–3098. doi:10.1093/hmg/ddy212. ISSN 0964-6906. PMC 6097154. PMID 29878115.
Davidson CD, Gibson AL, Gu T, Baxter LL, Deverman BE, Beadle K, et al. (1 October 2021). "Improved systemic AAV gene therapy with a neurotrophic capsid in Niemann–Pick disease type C1 mice". Life Science Alliance. 4 (10): e202101040. doi:10.26508/lsa.202101040. ISSN 2575-1077. PMC 8380657. PMID 34407999.
Samaranch L, Pérez-Cañamás A, Soto-Huelin B, Sudhakar V, Jurado-Arjona J, Hadaczek P, et al. (21 August 2019). "Adeno-associated viral vector serotype 9–based gene therapy for Niemann-Pick disease type A". Science Translational Medicine. 11 (506): eaat3738. doi:10.1126/scitranslmed.aat3738. ISSN 1946-6234. PMC 7285630. PMID 31434754.