Etiology
Salamon A,
Szpisjak L,
Zádori D,
Lénárt I,
Maróti Z,
Kalmár T,
Brierley CMH,
Deegan PB,
Klivényi P
Ideggyogy Sz
2021 Nov 30;74(11-12):425-429.
doi: 10.18071/isz.74.0425.
PMID: 34856081
Lyn N,
Pulikottil-Jacob R,
Rochmann C,
Krupnick R,
Gwaltney C,
Stephens N,
Kissell J,
Cox GF,
Fischer T,
Hamed A
Orphanet J Rare Dis
2020 Apr 15;15(1):92.
doi: 10.1186/s13023-020-01354-3.
PMID: 32295606Free PMC Article
Hooper AWM,
Alamilla JF,
Venier RE,
Gillespie DC,
Igdoura SA
Hum Mol Genet
2017 Feb 15;26(4):661-673.
doi: 10.1093/hmg/ddw422.
PMID: 28007910
Kolter T,
Sandhoff K
Biochim Biophys Acta
2006 Dec;1758(12):2057-79.
Epub 2006 Jun 14
doi: 10.1016/j.bbamem.2006.05.027.
PMID: 16854371
Mahuran D,
Novak A,
Lowden JA
Isozymes Curr Top Biol Med Res
1985;12:229-88.
PMID: 3886595
Diagnosis
Yin JH,
Hu WZ,
Huang Y
BMC Neurol
2023 Jun 21;23(1):240.
doi: 10.1186/s12883-023-03267-7.
PMID: 37344817Free PMC Article
Salamon A,
Szpisjak L,
Zádori D,
Lénárt I,
Maróti Z,
Kalmár T,
Brierley CMH,
Deegan PB,
Klivényi P
Ideggyogy Sz
2021 Nov 30;74(11-12):425-429.
doi: 10.18071/isz.74.0425.
PMID: 34856081
Alonso-Pérez J,
Casasús A,
Gimenez-Muñoz Á,
Duff J,
Rojas-Garcia R,
Illa I,
Straub V,
Töpf A,
Díaz-Manera J
Neuromuscul Disord
2021 Aug;31(8):769-772.
Epub 2021 May 27
doi: 10.1016/j.nmd.2021.04.011.
PMID: 34210542
İnci A,
Cengiz Ergin FB,
Biberoğlu G,
Okur İ,
Ezgü FS,
Tümer L
J Pediatr Endocrinol Metab
2021 Jun 25;34(6):805-812.
Epub 2021 Apr 6
doi: 10.1515/jpem-2020-0655.
PMID: 33819415
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
Therapy
Gaignard P,
Fagart J,
Niemir N,
Puech JP,
Azouguene E,
Dussau J,
Caillaud C
Gene
2013 Jan 10;512(2):521-6.
Epub 2012 Oct 6
doi: 10.1016/j.gene.2012.09.124.
PMID: 23046579
Bembi B,
Marchetti F,
Guerci VI,
Ciana G,
Addobbati R,
Grasso D,
Barone R,
Cariati R,
Fernandez-Guillen L,
Butters T,
Pittis MG
Neurology
2006 Jan 24;66(2):278-80.
doi: 10.1212/01.wnl.0000194225.78917.de.
PMID: 16434676
Drousiotou A,
Stylianidou G,
Anastasiadou V,
Christopoulos G,
Mavrikiou E,
Georgiou T,
Kalakoutis G,
Oladimeji A,
Hara Y,
Suzuki K,
Furihata K,
Ueno I,
Ioannou PA,
Fensom AH
Hum Genet
2000 Jul;107(1):12-7.
doi: 10.1007/s004390000324.
PMID: 10982028
Christopher R,
Rangaswamy GR,
Shetty KT
Indian J Pediatr
1995 Jul-Aug;62(4):479-83.
doi: 10.1007/BF02755071.
PMID: 10829909
Mahuran D,
Novak A,
Lowden JA
Isozymes Curr Top Biol Med Res
1985;12:229-88.
PMID: 3886595
Prognosis
İnci A,
Cengiz Ergin FB,
Biberoğlu G,
Okur İ,
Ezgü FS,
Tümer L
J Pediatr Endocrinol Metab
2021 Jun 25;34(6):805-812.
Epub 2021 Apr 6
doi: 10.1515/jpem-2020-0655.
PMID: 33819415
Lyn N,
Pulikottil-Jacob R,
Rochmann C,
Krupnick R,
Gwaltney C,
Stephens N,
Kissell J,
Cox GF,
Fischer T,
Hamed A
Orphanet J Rare Dis
2020 Apr 15;15(1):92.
doi: 10.1186/s13023-020-01354-3.
PMID: 32295606Free PMC Article
Gaignard P,
Fagart J,
Niemir N,
Puech JP,
Azouguene E,
Dussau J,
Caillaud C
Gene
2013 Jan 10;512(2):521-6.
Epub 2012 Oct 6
doi: 10.1016/j.gene.2012.09.124.
PMID: 23046579
Kolter T,
Sandhoff K
J Inherit Metab Dis
1998 Aug;21(5):548-63.
doi: 10.1023/a:1005419122018.
PMID: 9728335
Felding I,
Hultberg B
Neuropadiatrie
1978 Feb;9(1):74-83.
doi: 10.1055/s-0028-1085411.
PMID: 24820
Clinical prediction guides
Salamon A,
Szpisjak L,
Zádori D,
Lénárt I,
Maróti Z,
Kalmár T,
Brierley CMH,
Deegan PB,
Klivényi P
Ideggyogy Sz
2021 Nov 30;74(11-12):425-429.
doi: 10.18071/isz.74.0425.
PMID: 34856081
Hooper AWM,
Alamilla JF,
Venier RE,
Gillespie DC,
Igdoura SA
Hum Mol Genet
2017 Feb 15;26(4):661-673.
doi: 10.1093/hmg/ddw422.
PMID: 28007910
Gaignard P,
Fagart J,
Niemir N,
Puech JP,
Azouguene E,
Dussau J,
Caillaud C
Gene
2013 Jan 10;512(2):521-6.
Epub 2012 Oct 6
doi: 10.1016/j.gene.2012.09.124.
PMID: 23046579
Bembi B,
Marchetti F,
Guerci VI,
Ciana G,
Addobbati R,
Grasso D,
Barone R,
Cariati R,
Fernandez-Guillen L,
Butters T,
Pittis MG
Neurology
2006 Jan 24;66(2):278-80.
doi: 10.1212/01.wnl.0000194225.78917.de.
PMID: 16434676
Redonnet-Vernhet I,
Mahuran DJ,
Salvayre R,
Dubas F,
Levade T
Biochim Biophys Acta
1996 Nov 15;1317(2):127-33.
doi: 10.1016/s0925-4439(96)00044-0.
PMID: 8950198