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Sandhoff disease, chronic

MedGen UID:
934809
Concept ID:
C4310842
Disease or Syndrome
Synonym: SANDHOFF DISEASE, CHRONIC
 
OMIM®: 606873

Recent clinical studies

Etiology

Vitner EB, Farfel-Becker T, Ferreira NS, Leshkowitz D, Sharma P, Lang KS, Futerman AH
J Neuroinflammation 2016 May 12;13(1):104. doi: 10.1186/s12974-016-0570-2. PMID: 27175482Free PMC Article
Delate T, Olson KL, Rasmussen J, Hutka K, Sandhoff B, Hornak R, Merenich J; Clinical Pharmacy Cardiac Risk Service Study Group
Pharmacotherapy 2010 Nov;30(11):1127-35. doi: 10.1592/phco.30.11.1127. PMID: 20973686

Diagnosis

Miura K, Aoyama Y, Natsu Y, Koyama R, Hirano T, Nishio T, Hakamata W
Chem Pharm Bull (Tokyo) 2020;68(6):526-533. doi: 10.1248/cpb.c20-00069. PMID: 32475856
Müller vom Hagen J, Karle KN, Schüle R, Krägeloh-Mann I, Schöls L
Eur J Neurol 2014 Jul;21(7):983-8. Epub 2014 Apr 2 doi: 10.1111/ene.12423. PMID: 24698313
Ringdén O, Remberger M, Svahn BM, Barkholt L, Mattsson J, Aschan J, Le Blanc K, Gustafsson B, Hassan Z, Omazic B, Svenberg P, Solders G, von Döbeln U, Winiarski J, Ljungman P, Malm G
Transplantation 2006 Mar 15;81(5):718-25. doi: 10.1097/01.tp.0000181457.43146.36. PMID: 16534474
Pellegrini M, Zicari E, Dotti MT, Federico A
J Neurol Sci 2006 Feb 15;241(1-2):107-9. Epub 2005 Dec 13 doi: 10.1016/j.jns.2005.11.001. PMID: 16352312
Federico A, Palmeri S, Malandrini A, Fabrizi G, Mondelli M, Guazzi GC
Dev Neurosci 1991;13(4-5):280-7. doi: 10.1159/000112174. PMID: 1840098

Therapy

Clarke JT, Mahuran DJ, Sathe S, Kolodny EH, Rigat BA, Raiman JA, Tropak MB
Mol Genet Metab 2011 Jan;102(1):6-12. Epub 2010 Sep 17 doi: 10.1016/j.ymgme.2010.09.004. PMID: 20926324Free PMC Article
Masciullo M, Santoro M, Modoni A, Ricci E, Guitton J, Tonali P, Silvestri G
J Inherit Metab Dis 2010 Dec;33 Suppl 3:S355-61. Epub 2010 Sep 4 doi: 10.1007/s10545-010-9186-3. PMID: 20821051
Aerts JM, Hollak CE, Boot RG, Groener JE, Maas M
J Inherit Metab Dis 2006 Apr-Jun;29(2-3):449-56. doi: 10.1007/s10545-006-0272-5. PMID: 16763917

Prognosis

Abo-Ouf H, Hooper AW, White EJ, Janse van Rensburg HJ, Trigatti BL, Igdoura SA
Hum Mol Genet 2013 Oct 1;22(19):3960-75. Epub 2013 May 31 doi: 10.1093/hmg/ddt250. PMID: 23727835
Delate T, Olson KL, Rasmussen J, Hutka K, Sandhoff B, Hornak R, Merenich J; Clinical Pharmacy Cardiac Risk Service Study Group
Pharmacotherapy 2010 Nov;30(11):1127-35. doi: 10.1592/phco.30.11.1127. PMID: 20973686
Masciullo M, Santoro M, Modoni A, Ricci E, Guitton J, Tonali P, Silvestri G
J Inherit Metab Dis 2010 Dec;33 Suppl 3:S355-61. Epub 2010 Sep 4 doi: 10.1007/s10545-010-9186-3. PMID: 20821051

Clinical prediction guides

Weaver FE, White E, Peek AM, Nurse CA, Austin RC, Igdoura SA
Hum Mol Genet 2025 Jan 23;34(1):32-46. doi: 10.1093/hmg/ddae153. PMID: 39530163Free PMC Article
Vitner EB, Farfel-Becker T, Ferreira NS, Leshkowitz D, Sharma P, Lang KS, Futerman AH
J Neuroinflammation 2016 May 12;13(1):104. doi: 10.1186/s12974-016-0570-2. PMID: 27175482Free PMC Article
Clarke JT, Mahuran DJ, Sathe S, Kolodny EH, Rigat BA, Raiman JA, Tropak MB
Mol Genet Metab 2011 Jan;102(1):6-12. Epub 2010 Sep 17 doi: 10.1016/j.ymgme.2010.09.004. PMID: 20926324Free PMC Article
Tropak MB, Mahuran D
FEBS J 2007 Oct;274(19):4951-61. doi: 10.1111/j.1742-4658.2007.06040.x. PMID: 17894780Free PMC Article
Tropak MB, Reid SP, Guiral M, Withers SG, Mahuran D
J Biol Chem 2004 Apr 2;279(14):13478-87. Epub 2004 Jan 14 doi: 10.1074/jbc.M308523200. PMID: 14724290Free PMC Article

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