Sindrome di Sanfilippo (Italian Wikipedia)

Analysis of information sources in references of the Wikipedia article "Sindrome di Sanfilippo" in Italian language version.

refsWebsite

Global rank Italian rank

22nih.gov

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13doi.org

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12oadoi.org

799^th place

22^nd place

4web.archive.org

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1orpha.net

3,537^th place

1,385^th place

1mpssociety.ca

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1archive.org

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1neuropsychologia.org

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archive.org

Robertson SP, Klug GL, Rogers JG, Cerebrospinal fluid shunts in the management of behavioural problems in Sanfilippo syndrome (MPS III), in Eur. J. Pediatr., vol. 157, n. 8, agosto 1998, pp. 653–5, PMID 9727849.

doi.org

dx.doi.org

Lamanna WC, Lawrence R, Sarrazin S, Esko JD, Secondary storage of dermatan sulfate in Sanfilippo disease, in J. Biol. Chem., vol. 286, n. 9, marzo 2011, pp. 6955–62, DOI:10.1074/jbc.M110.192062, PMID 21193389.
Meikle PJ, Hopwood JJ, Clague AE, Carey WF, Prevalence of lysosomal storage disorders, in JAMA, vol. 281, n. 3, gennaio 1999, pp. 249–54, DOI:10.1001/jama.281.3.249, PMID 9918480.
Gabrielli O, Coppa GV, Bruni S, Villani GR, Pontarelli G, Di Natale P, An adult Sanfilippo type A patient with homozygous mutation R206P in the sulfamidase gene, in Am. J. Med. Genet. A, 133A, n. 1, febbraio 2005, pp. 85–9, DOI:10.1002/ajmg.a.30552, PMID 15637719.
Yogalingam G, Hopwood JJ, Molecular genetics of mucopolysaccharidosis type IIIA and IIIB: Diagnostic, clinical, and biological implications, in Hum. Mutat., vol. 18, n. 4, ottobre 2001, pp. 264–81, DOI:10.1002/humu.1189, PMID 11668611.
Gliddon BL, Yogalingam G, Hopwood JJ, Purification and characterization of recombinant murine sulfamidase, in Mol. Genet. Metab., vol. 83, n. 3, novembre 2004, pp. 239–45, DOI:10.1016/j.ymgme.2004.07.016, PMID 15542395.
Ellinwood NM, Ausseil J, Desmaris N, et al., Safe, efficient, and reproducible gene therapy of the brain in the dog models of Sanfilippo and hurler syndromes, in Mol. Ther., vol. 19, n. 2, febbraio 2011, pp. 251–9, DOI:10.1038/mt.2010.265, PMID 21139569.
Kloska A, Jakóbkiewicz-Banecka J, Narajczyk M, Banecka-Majkutewicz Z, Węgrzyn G, Effects of flavonoids on glycosaminoglycan synthesis: implications for substrate reduction therapy in Sanfilippo disease and other mucopolysaccharidoses, in Metab Brain Dis, febbraio 2011, DOI:10.1007/s11011-011-9233-2, PMID 21305347.
Malinowska M, Wilkinson FL, Langford-Smith KJ, et al., Genistein improves neuropathology and corrects behaviour in a mouse model of neurodegenerative metabolic disease, in PLoS ONE, vol. 5, n. 12, 2010, pp. e14192, DOI:10.1371/journal.pone.0014192, PMC 2995736, PMID 21152017.
A. Arfi, M. Richard; C. Gandolphe; D. Scherman, Storage correction in cells of patients suffering from mucopolysaccharidoses types IIIA and VII after treatment with genistein and other isoflavones., in J Inherit Metab Dis, vol. 33, n. 1, febbraio 2010, pp. 61-7, DOI:10.1007/s10545-009-9029-2, PMID 20084460.
M. Malinowska, FL. Wilkinson; W. Bennett; KJ. Langford-Smith; HA. O'Leary; J. Jakobkiewicz-Banecka; R. Wynn; JE. Wraith; G. Wegrzyn; BW. Bigger, Genistein reduces lysosomal storage in peripheral tissues of mucopolysaccharide IIIB mice., in Mol Genet Metab, vol. 98, n. 3, novembre 2009, pp. 235-42, DOI:10.1016/j.ymgme.2009.06.013, PMID 19632871.
J. Jakóbkiewicz-Banecka, E. Piotrowska; M. Narajczyk; S. Barańska; G. Wegrzyn, Genistein-mediated inhibition of glycosaminoglycan synthesis, which corrects storage in cells of patients suffering from mucopolysaccharidoses, acts by influencing an epidermal growth factor-dependent pathway., in J Biomed Sci, vol. 16, 2009, pp. 26, DOI:10.1186/1423-0127-16-26, PMID 19272193.
Wegrzyn G, Jakóbkiewicz-Banecka J, Gabig-Cimińska M, et al., Genistein: a natural isoflavone with a potential for treatment of genetic diseases, in Biochem. Soc. Trans., vol. 38, n. 2, aprile 2010, pp. 695–701, DOI:10.1042/BST0380695, PMID 20298245.
Piotrowska E, Jakóbkiewicz-Banecka J, Barańska S, et al., Genistein-mediated inhibition of glycosaminoglycan synthesis as a basis for gene expression-targeted isoflavone therapy for mucopolysaccharidoses, in Eur. J. Hum. Genet., vol. 14, n. 7, luglio 2006, pp. 846–52, DOI:10.1038/sj.ejhg.5201623, PMID 16670689.

mpssociety.ca

(EN) www.mpssociety.ca (PDF) ^{[collegamento interrotto]}, su mpssociety.ca.

neuropsychologia.org

(PL) Gdy mózg jest "przecukrzony" - nadzieja dla chorych na mukopolisacharydozę | Neuropsychologia.org | Gdy mózg jest "przecukrzony" - nadzieja dla chorych na mukopolisacharydozę | news, su neuropsychologia.org.

nih.gov

ncbi.nlm.nih.gov

Autio S, Palo J, Perheentupa J, Aspartylglycosaminuria: a gargoyle-like syndrome with autosomal recessive inheritance, in Birth Defects Orig. Artic. Ser., vol. 10, n. 4, 1974, pp. 193–200, PMID 4220085.
Lamanna WC, Lawrence R, Sarrazin S, Esko JD, Secondary storage of dermatan sulfate in Sanfilippo disease, in J. Biol. Chem., vol. 286, n. 9, marzo 2011, pp. 6955–62, DOI:10.1074/jbc.M110.192062, PMID 21193389.
Meikle PJ, Hopwood JJ, Clague AE, Carey WF, Prevalence of lysosomal storage disorders, in JAMA, vol. 281, n. 3, gennaio 1999, pp. 249–54, DOI:10.1001/jama.281.3.249, PMID 9918480.
(EN) N-SULFOGLUCOSAMINE SULFOHYDROLASE; SGSH - OMIM Result, su ncbi.nlm.nih.gov.
Bhattacharyya R, Gliddon B, Beccari T, Hopwood JJ, Stanley P, A novel missense mutation in lysosomal sulfamidase is the basis of MPS III A in a spontaneous mouse mutant, in Glycobiology, vol. 11, n. 1, gennaio 2001, pp. 99–103, PMID 11181566.
Gabrielli O, Coppa GV, Bruni S, Villani GR, Pontarelli G, Di Natale P, An adult Sanfilippo type A patient with homozygous mutation R206P in the sulfamidase gene, in Am. J. Med. Genet. A, 133A, n. 1, febbraio 2005, pp. 85–9, DOI:10.1002/ajmg.a.30552, PMID 15637719.
Chabás A, Montfort M, Martínez-Campos M, et al., Mutation and haplotype analyses in 26 Spanish Sanfilippo syndrome type A patients: possible single origin for 1091delC mutation, in Am. J. Med. Genet., vol. 100, n. 3, maggio 2001, pp. 223–8, PMID 11343308.
Blanch L, Weber B, Guo XH, Scott HS, Hopwood JJ, Molecular defects in Sanfilippo syndrome type A, in Hum. Mol. Genet., vol. 6, n. 5, maggio 1997, pp. 787–91, PMID 9158154.
Yogalingam G, Hopwood JJ, Molecular genetics of mucopolysaccharidosis type IIIA and IIIB: Diagnostic, clinical, and biological implications, in Hum. Mutat., vol. 18, n. 4, ottobre 2001, pp. 264–81, DOI:10.1002/humu.1189, PMID 11668611.
Robertson SP, Klug GL, Rogers JG, Cerebrospinal fluid shunts in the management of behavioural problems in Sanfilippo syndrome (MPS III), in Eur. J. Pediatr., vol. 157, n. 8, agosto 1998, pp. 653–5, PMID 9727849.
de Ruijter J, Valstar MJ, Wijburg FA, Mucopolysaccharidosis Type III (Sanfilippo Syndrome): Emerging Treatment Strategies, in Curr Pharm Biotechnol, gennaio 2011, PMID 21235449.
Bielicki J, Hopwood JJ, Melville EL, Anson DS, Recombinant human sulphamidase: expression, amplification, purification and characterization, in Biochem. J., 329 ( Pt 1), gennaio 1998, pp. 145–50, PMC 1219025, PMID 9405287.
Gliddon BL, Yogalingam G, Hopwood JJ, Purification and characterization of recombinant murine sulfamidase, in Mol. Genet. Metab., vol. 83, n. 3, novembre 2004, pp. 239–45, DOI:10.1016/j.ymgme.2004.07.016, PMID 15542395.
Ellinwood NM, Ausseil J, Desmaris N, et al., Safe, efficient, and reproducible gene therapy of the brain in the dog models of Sanfilippo and hurler syndromes, in Mol. Ther., vol. 19, n. 2, febbraio 2011, pp. 251–9, DOI:10.1038/mt.2010.265, PMID 21139569.
Kloska A, Jakóbkiewicz-Banecka J, Narajczyk M, Banecka-Majkutewicz Z, Węgrzyn G, Effects of flavonoids on glycosaminoglycan synthesis: implications for substrate reduction therapy in Sanfilippo disease and other mucopolysaccharidoses, in Metab Brain Dis, febbraio 2011, DOI:10.1007/s11011-011-9233-2, PMID 21305347.
Malinowska M, Wilkinson FL, Langford-Smith KJ, et al., Genistein improves neuropathology and corrects behaviour in a mouse model of neurodegenerative metabolic disease, in PLoS ONE, vol. 5, n. 12, 2010, pp. e14192, DOI:10.1371/journal.pone.0014192, PMC 2995736, PMID 21152017.
A. Arfi, M. Richard; C. Gandolphe; D. Scherman, Storage correction in cells of patients suffering from mucopolysaccharidoses types IIIA and VII after treatment with genistein and other isoflavones., in J Inherit Metab Dis, vol. 33, n. 1, febbraio 2010, pp. 61-7, DOI:10.1007/s10545-009-9029-2, PMID 20084460.
M. Malinowska, FL. Wilkinson; W. Bennett; KJ. Langford-Smith; HA. O'Leary; J. Jakobkiewicz-Banecka; R. Wynn; JE. Wraith; G. Wegrzyn; BW. Bigger, Genistein reduces lysosomal storage in peripheral tissues of mucopolysaccharide IIIB mice., in Mol Genet Metab, vol. 98, n. 3, novembre 2009, pp. 235-42, DOI:10.1016/j.ymgme.2009.06.013, PMID 19632871.
J. Jakóbkiewicz-Banecka, E. Piotrowska; M. Narajczyk; S. Barańska; G. Wegrzyn, Genistein-mediated inhibition of glycosaminoglycan synthesis, which corrects storage in cells of patients suffering from mucopolysaccharidoses, acts by influencing an epidermal growth factor-dependent pathway., in J Biomed Sci, vol. 16, 2009, pp. 26, DOI:10.1186/1423-0127-16-26, PMID 19272193.
J. Jakóbkiewicz-Banecka, A. Wegrzyn; G. Wegrzyn, Substrate deprivation therapy: a new hope for patients suffering from neuronopathic forms of inherited lysosomal storage diseases., in J Appl Genet, vol. 48, n. 4, 2007, pp. 383-8, PMID 17998597.
Wegrzyn G, Jakóbkiewicz-Banecka J, Gabig-Cimińska M, et al., Genistein: a natural isoflavone with a potential for treatment of genetic diseases, in Biochem. Soc. Trans., vol. 38, n. 2, aprile 2010, pp. 695–701, DOI:10.1042/BST0380695, PMID 20298245.
Piotrowska E, Jakóbkiewicz-Banecka J, Barańska S, et al., Genistein-mediated inhibition of glycosaminoglycan synthesis as a basis for gene expression-targeted isoflavone therapy for mucopolysaccharidoses, in Eur. J. Hum. Genet., vol. 14, n. 7, luglio 2006, pp. 846–52, DOI:10.1038/sj.ejhg.5201623, PMID 16670689.

oadoi.org

Lamanna WC, Lawrence R, Sarrazin S, Esko JD, Secondary storage of dermatan sulfate in Sanfilippo disease, in J. Biol. Chem., vol. 286, n. 9, marzo 2011, pp. 6955–62, DOI:10.1074/jbc.M110.192062, PMID 21193389.
Meikle PJ, Hopwood JJ, Clague AE, Carey WF, Prevalence of lysosomal storage disorders, in JAMA, vol. 281, n. 3, gennaio 1999, pp. 249–54, DOI:10.1001/jama.281.3.249, PMID 9918480.
Gabrielli O, Coppa GV, Bruni S, Villani GR, Pontarelli G, Di Natale P, An adult Sanfilippo type A patient with homozygous mutation R206P in the sulfamidase gene, in Am. J. Med. Genet. A, 133A, n. 1, febbraio 2005, pp. 85–9, DOI:10.1002/ajmg.a.30552, PMID 15637719.
Yogalingam G, Hopwood JJ, Molecular genetics of mucopolysaccharidosis type IIIA and IIIB: Diagnostic, clinical, and biological implications, in Hum. Mutat., vol. 18, n. 4, ottobre 2001, pp. 264–81, DOI:10.1002/humu.1189, PMID 11668611.
Gliddon BL, Yogalingam G, Hopwood JJ, Purification and characterization of recombinant murine sulfamidase, in Mol. Genet. Metab., vol. 83, n. 3, novembre 2004, pp. 239–45, DOI:10.1016/j.ymgme.2004.07.016, PMID 15542395.
Ellinwood NM, Ausseil J, Desmaris N, et al., Safe, efficient, and reproducible gene therapy of the brain in the dog models of Sanfilippo and hurler syndromes, in Mol. Ther., vol. 19, n. 2, febbraio 2011, pp. 251–9, DOI:10.1038/mt.2010.265, PMID 21139569.
Kloska A, Jakóbkiewicz-Banecka J, Narajczyk M, Banecka-Majkutewicz Z, Węgrzyn G, Effects of flavonoids on glycosaminoglycan synthesis: implications for substrate reduction therapy in Sanfilippo disease and other mucopolysaccharidoses, in Metab Brain Dis, febbraio 2011, DOI:10.1007/s11011-011-9233-2, PMID 21305347.
A. Arfi, M. Richard; C. Gandolphe; D. Scherman, Storage correction in cells of patients suffering from mucopolysaccharidoses types IIIA and VII after treatment with genistein and other isoflavones., in J Inherit Metab Dis, vol. 33, n. 1, febbraio 2010, pp. 61-7, DOI:10.1007/s10545-009-9029-2, PMID 20084460.
M. Malinowska, FL. Wilkinson; W. Bennett; KJ. Langford-Smith; HA. O'Leary; J. Jakobkiewicz-Banecka; R. Wynn; JE. Wraith; G. Wegrzyn; BW. Bigger, Genistein reduces lysosomal storage in peripheral tissues of mucopolysaccharide IIIB mice., in Mol Genet Metab, vol. 98, n. 3, novembre 2009, pp. 235-42, DOI:10.1016/j.ymgme.2009.06.013, PMID 19632871.
J. Jakóbkiewicz-Banecka, E. Piotrowska; M. Narajczyk; S. Barańska; G. Wegrzyn, Genistein-mediated inhibition of glycosaminoglycan synthesis, which corrects storage in cells of patients suffering from mucopolysaccharidoses, acts by influencing an epidermal growth factor-dependent pathway., in J Biomed Sci, vol. 16, 2009, pp. 26, DOI:10.1186/1423-0127-16-26, PMID 19272193.
Wegrzyn G, Jakóbkiewicz-Banecka J, Gabig-Cimińska M, et al., Genistein: a natural isoflavone with a potential for treatment of genetic diseases, in Biochem. Soc. Trans., vol. 38, n. 2, aprile 2010, pp. 695–701, DOI:10.1042/BST0380695, PMID 20298245.
Piotrowska E, Jakóbkiewicz-Banecka J, Barańska S, et al., Genistein-mediated inhibition of glycosaminoglycan synthesis as a basis for gene expression-targeted isoflavone therapy for mucopolysaccharidoses, in Eur. J. Hum. Genet., vol. 14, n. 7, luglio 2006, pp. 846–52, DOI:10.1038/sj.ejhg.5201623, PMID 16670689.

orpha.net

Orphanet: Mucopolisaccaridosi, tipo 3, su orpha.net.

web.archive.org

(EN) The Canadian MPS Society - History, su mpssociety.ca (archiviato dall'url originale il 14 marzo 2016).
(EN) Lauren's Hope, su laurenshope.org (archiviato dall'url originale l'8 ottobre 2010).
(PL) Genisteina w leczeniu choroby Sanfilippo , pulsmedycyny.com.pl, su pulsmedycyny.com.pl (archiviato dall'url originale il 18 ottobre 2010).
The Canadian MPS Society - Therapy & Treatment, su mpssociety.ca (archiviato dall'url originale il 3 settembre 2018).