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Mucopolysaccharidosis, type vi, intermediate

MedGen UID:
865689
Concept ID:
C4017252
Finding
Synonym: MUCOPOLYSACCHARIDOSIS, TYPE VI, INTERMEDIATE
 
OMIM®: 611542

Recent clinical studies

Etiology

Brunetti-Pierri N, Ferla R, Ginocchio VM, Rossi A, Fecarotta S, Romano R, Parenti G, Yildiz Y, Zancan S, Pecorella V, Dell'Anno M, Graziano M, Alliegro M, Andria G, Santamaria F, Brunetti-Pierri R, Simonelli F, Nigro V, Vargas M, Servillo G, Borgia F, Soscia E, Gargaro M, Funghini S, Tedesco N, Le Brun PR, Rupar CA, Prasad C, O'Callaghan M, Mitchell JJ, Danos O, Marteau JB, Galimberti S, Valsecchi MG, Veron P, Mingozzi F, Fallarino F, la Marca G, Sivri HS, Auricchio A
NEJM Evid 2022 Jul;1(7):EVIDoa2200052. Epub 2022 Jun 6 doi: 10.1056/EVIDoa2200052. PMID: 38319253
Salazar DA, Rodríguez-López A, Herreño A, Barbosa H, Herrera J, Ardila A, Barreto GE, González J, Alméciga-Díaz CJ
Mol Genet Metab 2016 Feb;117(2):129-39. Epub 2015 Aug 7 doi: 10.1016/j.ymgme.2015.08.001. PMID: 26276570
Jester S, Larsson J, Eklund EA, Papadopoulou D, Månsson JE, Békássy AN, Turkiewicz D, Toporski J, Øra I
Orphanet J Rare Dis 2013 Sep 5;8:134. doi: 10.1186/1750-1172-8-134. PMID: 24107440Free PMC Article
Byers S, Nuttall JD, Crawley AC, Hopwood JJ, Smith K, Fazzalari NL
Bone 1997 Nov;21(5):425-31. doi: 10.1016/s8756-3282(97)00175-0. PMID: 9356736

Diagnosis

Salazar DA, Rodríguez-López A, Herreño A, Barbosa H, Herrera J, Ardila A, Barreto GE, González J, Alméciga-Díaz CJ
Mol Genet Metab 2016 Feb;117(2):129-39. Epub 2015 Aug 7 doi: 10.1016/j.ymgme.2015.08.001. PMID: 26276570
Kuptanon C, Pangkanon S
J Med Assoc Thai 2014 Jun;97 Suppl 6:S142-6. PMID: 25391186
Jester S, Larsson J, Eklund EA, Papadopoulou D, Månsson JE, Békássy AN, Turkiewicz D, Toporski J, Øra I
Orphanet J Rare Dis 2013 Sep 5;8:134. doi: 10.1186/1750-1172-8-134. PMID: 24107440Free PMC Article
Yang CF, Wu JY, Lin SP, Tsai FJ
J Formos Med Assoc 2001 Dec;100(12):820-3. PMID: 11802522
Pilz H, von Figura K, Goebel HH
Ann Neurol 1979 Oct;6(4):315-25. doi: 10.1002/ana.410060405. PMID: 122048

Therapy

Brunetti-Pierri N, Ferla R, Ginocchio VM, Rossi A, Fecarotta S, Romano R, Parenti G, Yildiz Y, Zancan S, Pecorella V, Dell'Anno M, Graziano M, Alliegro M, Andria G, Santamaria F, Brunetti-Pierri R, Simonelli F, Nigro V, Vargas M, Servillo G, Borgia F, Soscia E, Gargaro M, Funghini S, Tedesco N, Le Brun PR, Rupar CA, Prasad C, O'Callaghan M, Mitchell JJ, Danos O, Marteau JB, Galimberti S, Valsecchi MG, Veron P, Mingozzi F, Fallarino F, la Marca G, Sivri HS, Auricchio A
NEJM Evid 2022 Jul;1(7):EVIDoa2200052. Epub 2022 Jun 6 doi: 10.1056/EVIDoa2200052. PMID: 38319253
Jester S, Larsson J, Eklund EA, Papadopoulou D, Månsson JE, Békássy AN, Turkiewicz D, Toporski J, Øra I
Orphanet J Rare Dis 2013 Sep 5;8:134. doi: 10.1186/1750-1172-8-134. PMID: 24107440Free PMC Article
Byers S, Nuttall JD, Crawley AC, Hopwood JJ, Smith K, Fazzalari NL
Bone 1997 Nov;21(5):425-31. doi: 10.1016/s8756-3282(97)00175-0. PMID: 9356736

Prognosis

Salazar DA, Rodríguez-López A, Herreño A, Barbosa H, Herrera J, Ardila A, Barreto GE, González J, Alméciga-Díaz CJ
Mol Genet Metab 2016 Feb;117(2):129-39. Epub 2015 Aug 7 doi: 10.1016/j.ymgme.2015.08.001. PMID: 26276570
Kuptanon C, Pangkanon S
J Med Assoc Thai 2014 Jun;97 Suppl 6:S142-6. PMID: 25391186
Jin WD, Jackson CE, Desnick RJ, Schuchman EH
Am J Hum Genet 1992 Apr;50(4):795-800. PMID: 1550123Free PMC Article

Clinical prediction guides

Salazar DA, Rodríguez-López A, Herreño A, Barbosa H, Herrera J, Ardila A, Barreto GE, González J, Alméciga-Díaz CJ
Mol Genet Metab 2016 Feb;117(2):129-39. Epub 2015 Aug 7 doi: 10.1016/j.ymgme.2015.08.001. PMID: 26276570
Kuptanon C, Pangkanon S
J Med Assoc Thai 2014 Jun;97 Suppl 6:S142-6. PMID: 25391186
Yang CF, Wu JY, Lin SP, Tsai FJ
J Formos Med Assoc 2001 Dec;100(12):820-3. PMID: 11802522
Arlt G, Brooks DA, Isbrandt D, Hopwood JJ, Bielicki J, Bradford TM, Bindloss-Petherbridge CA, von Figura K, Peters C
J Biol Chem 1994 Apr 1;269(13):9638-43. PMID: 8144552
Jin WD, Jackson CE, Desnick RJ, Schuchman EH
Am J Hum Genet 1992 Apr;50(4):795-800. PMID: 1550123Free PMC Article

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