Σύνδρομο Σανφιλίπο (Greek Wikipedia)

«A Guide to Understanding MPS III» (PDF). web.archive.org. Αρχειοθετήθηκε από το πρωτότυπο (PDF) στις 8 Ιουλίου 2011. Ανακτήθηκε στις 13 Μαρτίου 2019.

curesanfilippofoundation.org

«Early Symptoms of Sanfilippo Syndrome». Cure Sanfilippo Foundation.
[World Sanfilippo Awareness Day] https://curesanfilippofoundation.org/worldsanfilippoawarenessday/

doi.org

dx.doi.org

Marlies J. ValstarΣφάλμα έκφρασης: Μη αναγνωρισμένη λέξη "etal" (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. PMID 20852935.
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.
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): σελ. 506–516. doi:10.1089/hum.2013.238.
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.
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. 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.
«Prevalence of lysosomal storage disorders». JAMA 281 (3): 249–54. January 1999. doi:10.1001/jama.281.3.249. PMID 9918480.
«The frequency of lysosomal storage diseases in The Netherlands». Hum. Genet. 105 (1–2): 151–6. 1999. doi:10.1007/s004390051078. PMID 10480370.
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. PMID 31287005.

doi.org

Porter, K.A.Σφάλμα έκφρασης: Μη αναγνωρισμένη λέξη "etal" (December 2020). «Parent Experiences of Sanfilippo Syndrome Impact and Unmet Treatment Needs: A Qualitative Assessment». Neurology and Therapy 2020. https://doi.org/10.1007/s40120-020-00226-z.

jonahsjustbegun.org

«Jonah's Just Begun - Foundation to Cure Sanfilippo, Inc». Αρχειοθετήθηκε από το πρωτότυπο στις 19 Ιουνίου 2021. Ανακτήθηκε στις 22 Απριλίου 2021.

lifescienceleader.com

Koberstein, Wayne (November 7, 2018). «Lysogene: Mother of Invention». Life Science Leader (United States: VertMarkets). https://www.lifescienceleader.com/doc/lysogene-mother-of-invention-0001.

medlineplus.gov

Edens Hurst, Anna C.· Zieve, David· Conaway, Brenda (1 Μαΐου 2017). «Mucopolysaccharidosis type III». United States National Library of Medicine. Ανακτήθηκε στις 20 Ιουνίου 2019.

medscape.com

emedicine.medscape.com

Defendi, Germaine L. (23 Μαΐου 2018). «Sanfilippo Syndrome (Mucopolysaccharidosis Type III)». Medscape. Ανακτήθηκε στις 20 Ιουνίου 2019.

nih.gov

ncbi.nlm.nih.gov

Marlies J. ValstarΣφάλμα έκφρασης: Μη αναγνωρισμένη λέξη "etal" (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. PMID 20852935.
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.
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.
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. 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.
«Prevalence of lysosomal storage disorders». JAMA 281 (3): 249–54. January 1999. doi:10.1001/jama.281.3.249. PMID 9918480.
«The frequency of lysosomal storage diseases in The Netherlands». Hum. Genet. 105 (1–2): 151–6. 1999. doi:10.1007/s004390051078. PMID 10480370.
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. PMID 31287005.

pubmedcentral.nih.gov

Marlies J. ValstarΣφάλμα έκφρασης: Μη αναγνωρισμένη λέξη "etal" (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. PMID 20852935.
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. PMID 29061114.
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. PMID 31287005.

ninds.nih.gov

«Mucopolysaccharidoses Fact Sheet». National Institute of Neurological Disorders and Stroke. 15 Νοεμβρίου 2017. Ανακτήθηκε στις 25 Μαΐου 2018.

ghr.nlm.nih.gov

«Mucopolysaccharidosis type III». Genetics Home Reference. Μαρτίου 2017. Ανακτήθηκε στις 22 Ιουλίου 2018.

phoenixnestbiotech.com

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

phunkphenomenon.com

Phunk Phenomenon HipHop For Hope Αρχειοθετήθηκε 2018-09-01 στο Wayback Machine., a dance crew in Boston raising awareness for Sanfilippo Syndrome

sanfilipponews.com

Marta Figeiredo. «Autism Symptoms May Be Indicative of Sanfilippo Syndrome, Data Review Finds».

teamsanfilippo.org

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

ug.gda.pl

bgo.ug.gda.pl

«Archived copy». Αρχειοθετήθηκε από το πρωτότυπο στις 21 Ιουνίου 2013. Ανακτήθηκε στις 7 Ιανουαρίου 2014.

web.archive.org

«A Guide to Understanding MPS III» (PDF). web.archive.org. Αρχειοθετήθηκε από το πρωτότυπο (PDF) στις 8 Ιουλίου 2011. Ανακτήθηκε στις 13 Μαρτίου 2019.
«Archived copy». Αρχειοθετήθηκε από το πρωτότυπο στις 21 Ιουνίου 2013. Ανακτήθηκε στις 7 Ιανουαρίου 2014.
«Jonah's Just Begun - Foundation to Cure Sanfilippo, Inc». Αρχειοθετήθηκε από το πρωτότυπο στις 19 Ιουνίου 2021. Ανακτήθηκε στις 22 Απριλίου 2021.
Phunk Phenomenon HipHop For Hope Αρχειοθετήθηκε 2018-09-01 στο 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/ Αρχειοθετήθηκε 2020-10-25 στο Wayback Machine.

worldcat.org

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. PMID 31287005.