Sanfilippo syndrome (English Wikipedia)

Marlies J. Valstar; Hennie T. Bruggenwirth; Renske Olmer; Ron A. Wevers; Frans W. Verheijen; et al. (September 2010). "Mucopolysaccharidosis type IIIB may predominantly present with an attenuated clinical phenotype". Inherit Metab Dis. 10.1007/s10545-010-9199-y (6): 759–767. doi:10.1007/s10545-010-9199-y. PMC 2992652. PMID 20852935.
Zelei T, Csetneki K, Vokó Z, Siffel C. (2018). "Epidemiology of Sanfilippo syndrome: results of a systematic literature review". Orphanet Journal of Rare Diseases. 13 (1): 53. doi:10.1186/s13023-018-0796-4. PMC 5891921. PMID 29631636.{{cite journal}}: CS1 maint: multiple names: authors list (link)
Lavery C, Hendriksz CJ, Jones SA (2017). "Mortality in patients with Sanfilippo syndrome". Orphanet Journal of Rare Diseases. 12 (1): 168. doi:10.1186/s13023-017-0717-y. PMC 5654004. PMID 29061114.{{cite journal}}: CS1 maint: multiple names: authors list (link)
Breyer, Sandra Rafaela; Vettorazzi, Eik; Schmitz, Leonie; Gulati, Amit; von Cossel, Katharina Maria; Spiro, Alexander; Rupprecht, Martin; Stuecker, Ralf; Muschol, Nicole Maria (19 March 2021). "Hip pathologies in mucopolysaccharidosis type III". Journal of Orthopaedic Surgery and Research. 16 (1): 201. doi:10.1186/s13018-021-02340-6. PMC 7977579. PMID 33741007. S2CID 232273506.
Andrade, F.; Aldámiz-Echevarría, L.; Llarena, M.; Couce, M.L. (2015). "Sanfilippo syndrome: Overall review". Pediatrics International. 57 (3): 331–8. doi:10.1111/ped.12636. PMID 25851924. S2CID 24663642.
Tardieu, Marc (February 2014). "Intracerebral Administration of Adeno-Associated Viral Vector Serotype rh.10 Carrying Human SGSH and SUMF1 cDNAs in Children with Mucopolysaccharidosis Type IIIA Disease: Results of a Phase I/II Trial". Human Gene Therapy. 25 (6): 506–516. doi:10.1089/hum.2013.238. PMID 24524415.
Muschol, Nicole; Koehn, Anja; Cossel, Katharina von; Okur, Ilyas; Ezgu, Fatih; Harmatz, Paul; Lopez, Maria J. de Castro; Couce, Maria Luz; Lin, Shuan-Pei; Batzios, Spyros; Cleary, Maureen; Solano, Martha; Nestrasil, Igor; Kaufman, Brian; Shaywitz, Adam J. (2023-01-17). "A phase I/II study on intracerebroventricular tralesinidase alfa in patients with Sanfilippo syndrome type B". The Journal of Clinical Investigation. 133 (2). doi:10.1172/JCI165076. ISSN 0021-9738. PMC 9843052. PMID 36413418. S2CID 253759977.
Piotrowska, E.; Jakóbkiewicz-Banecka, J.; Barańska, S.; Tylki-Szymańska, A.; Czartoryska, B.; Wegrzyn, A.; Wegrzyn, G. (Jul 2006). "Genistein-mediated inhibition of glycosaminoglycan synthesis as a basis for gene expression-targeted isoflavone therapy for mucopolysaccharidoses". European Journal of Human Genetics. 14 (7): 846–52. doi:10.1038/sj.ejhg.5201623. PMID 16670689.
Jin, Y.; Wu, H.; Cohen, EM.; Wei, J.; Jin, H.; Prentice, H.; Wu, JY. (Mar 2007). "Genistein and daidzein induce neurotoxicity at high concentrations in primary rat neuronal cultures". J Biomed Sci. 14 (2): 275–84. doi:10.1007/s11373-006-9142-2. PMID 17245525.
Porter, K.A.; O'Neill, C.; Drake, E.; et al. (2021). "Parent Experiences of Sanfilippo Syndrome Impact and Unmet Treatment Needs: A Qualitative Assessment". Neurology and Therapy. 2020 (1): 197–212. doi:10.1007/s40120-020-00226-z. PMC 8139994. PMID 33263924.
Lavery, Christine; Hendriksz, Chris J.; Jones, Simon A. (23 Oct 2017). "Mortality in patients with Sanfilippo syndrome". Orphanet Journal of Rare Diseases. 12 (1): 168. doi:10.1186/s13023-017-0717-y. PMC 5654004. PMID 29061114.
Nelson J (December 1997). "Incidence of the mucopolysaccharidoses in Northern Ireland". Hum. Genet. 101 (3): 355–8. doi:10.1007/s004390050641. PMID 9439667. S2CID 23099247.
Meikle PJ, Hopwood JJ, Clague AE, Carey WF (January 1999). "Prevalence of lysosomal storage disorders". JAMA. 281 (3): 249–54. doi:10.1001/jama.281.3.249. PMID 9918480. S2CID 14297661.
Poorthuis BJ, Wevers RA, Kleijer WJ, et al. (1999). "The frequency of lysosomal storage diseases in The Netherlands". Hum. Genet. 105 (1–2): 151–6. doi:10.1007/s004390051078. PMID 10480370.
Muschol; et al. (October 27, 2022). "Sanfilippo syndrome: consensus guidelines for clinical care". Orphanet Journal of Rare Diseases. (2022) 17:391 (1): 391. doi:10.1186/s13023-022-02484-6. PMC 9612603. PMID 36303195.
Shapiro, Elsa; Lourenço, Charles Marques; Mungan, Neslihan Onenli; Muschol, Nicole; O’Neill, Cara; Vijayaraghavan, Suresh (8 July 2019). "Analysis of the caregiver burden associated with Sanfilippo syndrome type B: panel recommendations based on qualitative and quantitative data". Orphanet Journal of Rare Diseases. 14 (1): 168. doi:10.1186/s13023-019-1150-1. ISSN 1750-1172. PMC 6615275. PMID 31287005. Material was copied from this source, which is available under a Creative Commons Attribution 4.0 International License.

jonahsjustbegun.org

"Jonah's Just Begun - Foundation to Cure Sanfilippo, Inc". Archived from the original on 2021-06-19. Retrieved 2012-07-28.

lifescienceleader.com

Koberstein, Wayne (November 7, 2018). "Lysogene: Mother of Invention". Life Science Leader. United States: VertMarkets.

medlineplus.gov

Edens Hurst, Anna C.; Zieve, David; Conaway, Brenda (1 May 2017). "Mucopolysaccharidosis type III". United States National Library of Medicine. Retrieved 20 June 2019.

medscape.com

emedicine.medscape.com

Defendi, Germaine L. (23 May 2018). "Sanfilippo Syndrome (Mucopolysaccharidosis Type III)". Medscape. Retrieved 20 June 2019.

nih.gov

pubmed.ncbi.nlm.nih.gov

Marlies J. Valstar; Hennie T. Bruggenwirth; Renske Olmer; Ron A. Wevers; Frans W. Verheijen; et al. (September 2010). "Mucopolysaccharidosis type IIIB may predominantly present with an attenuated clinical phenotype". Inherit Metab Dis. 10.1007/s10545-010-9199-y (6): 759–767. doi:10.1007/s10545-010-9199-y. PMC 2992652. PMID 20852935.
Zelei T, Csetneki K, Vokó Z, Siffel C. (2018). "Epidemiology of Sanfilippo syndrome: results of a systematic literature review". Orphanet Journal of Rare Diseases. 13 (1): 53. doi:10.1186/s13023-018-0796-4. PMC 5891921. PMID 29631636.{{cite journal}}: CS1 maint: multiple names: authors list (link)
Lavery C, Hendriksz CJ, Jones SA (2017). "Mortality in patients with Sanfilippo syndrome". Orphanet Journal of Rare Diseases. 12 (1): 168. doi:10.1186/s13023-017-0717-y. PMC 5654004. PMID 29061114.{{cite journal}}: CS1 maint: multiple names: authors list (link)
Breyer, Sandra Rafaela; Vettorazzi, Eik; Schmitz, Leonie; Gulati, Amit; von Cossel, Katharina Maria; Spiro, Alexander; Rupprecht, Martin; Stuecker, Ralf; Muschol, Nicole Maria (19 March 2021). "Hip pathologies in mucopolysaccharidosis type III". Journal of Orthopaedic Surgery and Research. 16 (1): 201. doi:10.1186/s13018-021-02340-6. PMC 7977579. PMID 33741007. S2CID 232273506.
Wagner, Victoria F.; Northrup, Hope (1993). "Mucopolysaccharidosis Type III". GeneReviews®. University of Washington, Seattle. PMID 31536183. Retrieved 3 January 2023.
Andrade, F.; Aldámiz-Echevarría, L.; Llarena, M.; Couce, M.L. (2015). "Sanfilippo syndrome: Overall review". Pediatrics International. 57 (3): 331–8. doi:10.1111/ped.12636. PMID 25851924. S2CID 24663642.
Tardieu, Marc (February 2014). "Intracerebral Administration of Adeno-Associated Viral Vector Serotype rh.10 Carrying Human SGSH and SUMF1 cDNAs in Children with Mucopolysaccharidosis Type IIIA Disease: Results of a Phase I/II Trial". Human Gene Therapy. 25 (6): 506–516. doi:10.1089/hum.2013.238. PMID 24524415.
Muschol, Nicole; Koehn, Anja; Cossel, Katharina von; Okur, Ilyas; Ezgu, Fatih; Harmatz, Paul; Lopez, Maria J. de Castro; Couce, Maria Luz; Lin, Shuan-Pei; Batzios, Spyros; Cleary, Maureen; Solano, Martha; Nestrasil, Igor; Kaufman, Brian; Shaywitz, Adam J. (2023-01-17). "A phase I/II study on intracerebroventricular tralesinidase alfa in patients with Sanfilippo syndrome type B". The Journal of Clinical Investigation. 133 (2). doi:10.1172/JCI165076. ISSN 0021-9738. PMC 9843052. PMID 36413418. S2CID 253759977.
Piotrowska, E.; Jakóbkiewicz-Banecka, J.; Barańska, S.; Tylki-Szymańska, A.; Czartoryska, B.; Wegrzyn, A.; Wegrzyn, G. (Jul 2006). "Genistein-mediated inhibition of glycosaminoglycan synthesis as a basis for gene expression-targeted isoflavone therapy for mucopolysaccharidoses". European Journal of Human Genetics. 14 (7): 846–52. doi:10.1038/sj.ejhg.5201623. PMID 16670689.
Jin, Y.; Wu, H.; Cohen, EM.; Wei, J.; Jin, H.; Prentice, H.; Wu, JY. (Mar 2007). "Genistein and daidzein induce neurotoxicity at high concentrations in primary rat neuronal cultures". J Biomed Sci. 14 (2): 275–84. doi:10.1007/s11373-006-9142-2. PMID 17245525.
Porter, K.A.; O'Neill, C.; Drake, E.; et al. (2021). "Parent Experiences of Sanfilippo Syndrome Impact and Unmet Treatment Needs: A Qualitative Assessment". Neurology and Therapy. 2020 (1): 197–212. doi:10.1007/s40120-020-00226-z. PMC 8139994. PMID 33263924.
Lavery, Christine; Hendriksz, Chris J.; Jones, Simon A. (23 Oct 2017). "Mortality in patients with Sanfilippo syndrome". Orphanet Journal of Rare Diseases. 12 (1): 168. doi:10.1186/s13023-017-0717-y. PMC 5654004. PMID 29061114.
Nelson J (December 1997). "Incidence of the mucopolysaccharidoses in Northern Ireland". Hum. Genet. 101 (3): 355–8. doi:10.1007/s004390050641. PMID 9439667. S2CID 23099247.
Meikle PJ, Hopwood JJ, Clague AE, Carey WF (January 1999). "Prevalence of lysosomal storage disorders". JAMA. 281 (3): 249–54. doi:10.1001/jama.281.3.249. PMID 9918480. S2CID 14297661.
Poorthuis BJ, Wevers RA, Kleijer WJ, et al. (1999). "The frequency of lysosomal storage diseases in The Netherlands". Hum. Genet. 105 (1–2): 151–6. doi:10.1007/s004390051078. PMID 10480370.
Muschol; et al. (October 27, 2022). "Sanfilippo syndrome: consensus guidelines for clinical care". Orphanet Journal of Rare Diseases. (2022) 17:391 (1): 391. doi:10.1186/s13023-022-02484-6. PMC 9612603. PMID 36303195.
Shapiro, Elsa; Lourenço, Charles Marques; Mungan, Neslihan Onenli; Muschol, Nicole; O’Neill, Cara; Vijayaraghavan, Suresh (8 July 2019). "Analysis of the caregiver burden associated with Sanfilippo syndrome type B: panel recommendations based on qualitative and quantitative data". Orphanet Journal of Rare Diseases. 14 (1): 168. doi:10.1186/s13023-019-1150-1. ISSN 1750-1172. PMC 6615275. PMID 31287005. Material was copied from this source, which is available under a Creative Commons Attribution 4.0 International License.

ncbi.nlm.nih.gov

Marlies J. Valstar; Hennie T. Bruggenwirth; Renske Olmer; Ron A. Wevers; Frans W. Verheijen; et al. (September 2010). "Mucopolysaccharidosis type IIIB may predominantly present with an attenuated clinical phenotype". Inherit Metab Dis. 10.1007/s10545-010-9199-y (6): 759–767. doi:10.1007/s10545-010-9199-y. PMC 2992652. PMID 20852935.
Zelei T, Csetneki K, Vokó Z, Siffel C. (2018). "Epidemiology of Sanfilippo syndrome: results of a systematic literature review". Orphanet Journal of Rare Diseases. 13 (1): 53. doi:10.1186/s13023-018-0796-4. PMC 5891921. PMID 29631636.{{cite journal}}: CS1 maint: multiple names: authors list (link)
Lavery C, Hendriksz CJ, Jones SA (2017). "Mortality in patients with Sanfilippo syndrome". Orphanet Journal of Rare Diseases. 12 (1): 168. doi:10.1186/s13023-017-0717-y. PMC 5654004. PMID 29061114.{{cite journal}}: CS1 maint: multiple names: authors list (link)
Breyer, Sandra Rafaela; Vettorazzi, Eik; Schmitz, Leonie; Gulati, Amit; von Cossel, Katharina Maria; Spiro, Alexander; Rupprecht, Martin; Stuecker, Ralf; Muschol, Nicole Maria (19 March 2021). "Hip pathologies in mucopolysaccharidosis type III". Journal of Orthopaedic Surgery and Research. 16 (1): 201. doi:10.1186/s13018-021-02340-6. PMC 7977579. PMID 33741007. S2CID 232273506.
Wagner, Victoria F.; Northrup, Hope (1993). "Mucopolysaccharidosis Type III". GeneReviews®. University of Washington, Seattle. PMID 31536183. Retrieved 3 January 2023.
Muschol, Nicole; Koehn, Anja; Cossel, Katharina von; Okur, Ilyas; Ezgu, Fatih; Harmatz, Paul; Lopez, Maria J. de Castro; Couce, Maria Luz; Lin, Shuan-Pei; Batzios, Spyros; Cleary, Maureen; Solano, Martha; Nestrasil, Igor; Kaufman, Brian; Shaywitz, Adam J. (2023-01-17). "A phase I/II study on intracerebroventricular tralesinidase alfa in patients with Sanfilippo syndrome type B". The Journal of Clinical Investigation. 133 (2). doi:10.1172/JCI165076. ISSN 0021-9738. PMC 9843052. PMID 36413418. S2CID 253759977.
Porter, K.A.; O'Neill, C.; Drake, E.; et al. (2021). "Parent Experiences of Sanfilippo Syndrome Impact and Unmet Treatment Needs: A Qualitative Assessment". Neurology and Therapy. 2020 (1): 197–212. doi:10.1007/s40120-020-00226-z. PMC 8139994. PMID 33263924.
Lavery, Christine; Hendriksz, Chris J.; Jones, Simon A. (23 Oct 2017). "Mortality in patients with Sanfilippo syndrome". Orphanet Journal of Rare Diseases. 12 (1): 168. doi:10.1186/s13023-017-0717-y. PMC 5654004. PMID 29061114.
Muschol; et al. (October 27, 2022). "Sanfilippo syndrome: consensus guidelines for clinical care". Orphanet Journal of Rare Diseases. (2022) 17:391 (1): 391. doi:10.1186/s13023-022-02484-6. PMC 9612603. PMID 36303195.
Shapiro, Elsa; Lourenço, Charles Marques; Mungan, Neslihan Onenli; Muschol, Nicole; O’Neill, Cara; Vijayaraghavan, Suresh (8 July 2019). "Analysis of the caregiver burden associated with Sanfilippo syndrome type B: panel recommendations based on qualitative and quantitative data". Orphanet Journal of Rare Diseases. 14 (1): 168. doi:10.1186/s13023-019-1150-1. ISSN 1750-1172. PMC 6615275. PMID 31287005. Material was copied from this source, which is available under a Creative Commons Attribution 4.0 International License.

ninds.nih.gov

"Mucopolysaccharidoses Fact Sheet". National Institute of Neurological Disorders and Stroke. 15 Nov 2017. Retrieved 25 May 2018.

ghr.nlm.nih.gov

"Mucopolysaccharidosis type III". Genetics Home Reference. March 2017. Retrieved 22 July 2018.

phoenixnestbiotech.com

Phoenix Nest, Inc., a biotech company seeking treatments and cures for Sanfilippo Syndrome

phunkphenomenon.com

Phunk Phenomenon HipHop For Hope Archived 2018-09-01 at the Wayback Machine, a dance crew in Boston raising awareness for Sanfilippo Syndrome

sanfilipponews.com

Marta Figeiredo (20 March 2018). "Autism Symptoms May Be Indicative of Sanfilippo Syndrome, Data Review Finds".

semanticscholar.org

api.semanticscholar.org

Breyer, Sandra Rafaela; Vettorazzi, Eik; Schmitz, Leonie; Gulati, Amit; von Cossel, Katharina Maria; Spiro, Alexander; Rupprecht, Martin; Stuecker, Ralf; Muschol, Nicole Maria (19 March 2021). "Hip pathologies in mucopolysaccharidosis type III". Journal of Orthopaedic Surgery and Research. 16 (1): 201. doi:10.1186/s13018-021-02340-6. PMC 7977579. PMID 33741007. S2CID 232273506.
Andrade, F.; Aldámiz-Echevarría, L.; Llarena, M.; Couce, M.L. (2015). "Sanfilippo syndrome: Overall review". Pediatrics International. 57 (3): 331–8. doi:10.1111/ped.12636. PMID 25851924. S2CID 24663642.
Muschol, Nicole; Koehn, Anja; Cossel, Katharina von; Okur, Ilyas; Ezgu, Fatih; Harmatz, Paul; Lopez, Maria J. de Castro; Couce, Maria Luz; Lin, Shuan-Pei; Batzios, Spyros; Cleary, Maureen; Solano, Martha; Nestrasil, Igor; Kaufman, Brian; Shaywitz, Adam J. (2023-01-17). "A phase I/II study on intracerebroventricular tralesinidase alfa in patients with Sanfilippo syndrome type B". The Journal of Clinical Investigation. 133 (2). doi:10.1172/JCI165076. ISSN 0021-9738. PMC 9843052. PMID 36413418. S2CID 253759977.
Nelson J (December 1997). "Incidence of the mucopolysaccharidoses in Northern Ireland". Hum. Genet. 101 (3): 355–8. doi:10.1007/s004390050641. PMID 9439667. S2CID 23099247.
Meikle PJ, Hopwood JJ, Clague AE, Carey WF (January 1999). "Prevalence of lysosomal storage disorders". JAMA. 281 (3): 249–54. doi:10.1001/jama.281.3.249. PMID 9918480. S2CID 14297661.

teamsanfilippo.org

Team Sanfilippo Foundation, a medical research foundation created by parents of children with Sanfilippo Syndrome

theguardian.com

Halliday, Josh (27 December 2023). "Sheffield family plead for help after drug trial for boy, 11, is abruptly stopped". The Guardian. Tom Mathers, the chief executive of Allievex, said: "The hardest decision that I have ever had to make was to pause our ongoing treatment of children with this devastating disease. It is most frustrating because we have a treatment that we know works.

ug.gda.pl

bgo.ug.gda.pl

"Department of Molecular Biology, University of Gdansk - Head of DMB". Archived from the original on 2013-06-21. Retrieved 2014-01-07.

web.archive.org

"A Guide to Understanding MPS III" (PDF). Archived from the original (PDF) on 8 July 2011. Retrieved 13 March 2019.
"Tralesinidase alfa for Sanfilippo syndrome type B". Allievex. Archived from the original on 2 June 2023. Retrieved 27 December 2023.
"Department of Molecular Biology, University of Gdansk - Head of DMB". Archived from the original on 2013-06-21. Retrieved 2014-01-07.
"Jonah's Just Begun - Foundation to Cure Sanfilippo, Inc". Archived from the original on 2021-06-19. Retrieved 2012-07-28.
Phunk Phenomenon HipHop For Hope Archived 2018-09-01 at the Wayback Machine, a dance crew in Boston raising awareness for Sanfilippo Syndrome
[Awareness Days - International Calendar] https://www.awarenessdays.com/awareness-days-calendar/world-sanfilippo-awareness-day-2019/ Archived 2020-10-25 at the Wayback Machine

worldcat.org

Muschol, Nicole; Koehn, Anja; Cossel, Katharina von; Okur, Ilyas; Ezgu, Fatih; Harmatz, Paul; Lopez, Maria J. de Castro; Couce, Maria Luz; Lin, Shuan-Pei; Batzios, Spyros; Cleary, Maureen; Solano, Martha; Nestrasil, Igor; Kaufman, Brian; Shaywitz, Adam J. (2023-01-17). "A phase I/II study on intracerebroventricular tralesinidase alfa in patients with Sanfilippo syndrome type B". The Journal of Clinical Investigation. 133 (2). doi:10.1172/JCI165076. ISSN 0021-9738. PMC 9843052. PMID 36413418. S2CID 253759977.
Shapiro, Elsa; Lourenço, Charles Marques; Mungan, Neslihan Onenli; Muschol, Nicole; O’Neill, Cara; Vijayaraghavan, Suresh (8 July 2019). "Analysis of the caregiver burden associated with Sanfilippo syndrome type B: panel recommendations based on qualitative and quantitative data". Orphanet Journal of Rare Diseases. 14 (1): 168. doi:10.1186/s13023-019-1150-1. ISSN 1750-1172. PMC 6615275. PMID 31287005. Material was copied from this source, which is available under a Creative Commons Attribution 4.0 International License.