Etiology
Osmon KJ,
Thompson P,
Woodley E,
Karumuthil-Melethil S,
Heindel C,
Keimel JG,
Kaemmerer WF,
Gray SJ,
Walia JS
Curr Gene Ther
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PMID: 34530708
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.
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PMID: 32295606Free PMC Article
Jahnová H,
Poupětová H,
Jirečková J,
Vlášková H,
Košťálová E,
Mazanec R,
Zumrová A,
Mečíř P,
Mušová Z,
Magner M
J Neurol
2019 Aug;266(8):1953-1959.
Epub 2019 May 10
doi: 10.1007/s00415-019-09364-3.
PMID: 31076878
Gort L,
de Olano N,
Macías-Vidal J,
Coll MA;
Spanish GM2 Working Group
Gene
2012 Sep 10;506(1):25-30.
Epub 2012 Jul 10
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PMID: 22789865
Neudorfer O,
Pastores GM,
Zeng BJ,
Gianutsos J,
Zaroff CM,
Kolodny EH
Genet Med
2005 Feb;7(2):119-23.
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PMID: 15714079
Diagnosis
Karataş MÇ,
Yazıcı H,
Bozacı AE,
Canda E,
Levent E,
Uçar SK,
Çoker M
Arch Argent Pediatr
2022 Feb;120(1):e25-e28.
Epub 2022 Jan 1
doi: 10.5546/aap.2022.eng.e25.
PMID: 35068126
Májovská J,
Hennig A,
Nestrasil I,
Schneider SA,
Jahnová H,
Vaněčková M,
Magner M,
Dušek P
Neurol Sci
2022 May;43(5):3273-3281.
Epub 2021 Nov 20
doi: 10.1007/s10072-021-05757-3.
PMID: 34800199
Jahnová H,
Poupětová H,
Jirečková J,
Vlášková H,
Košťálová E,
Mazanec R,
Zumrová A,
Mečíř P,
Mušová Z,
Magner M
J Neurol
2019 Aug;266(8):1953-1959.
Epub 2019 May 10
doi: 10.1007/s00415-019-09364-3.
PMID: 31076878
Barritt AW,
Anderson SJ,
Leigh PN,
Ridha BH
Pract Neurol
2017 Oct;17(5):396-399.
Epub 2017 Jul 24
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PMID: 28739864
Neudorfer O,
Pastores GM,
Zeng BJ,
Gianutsos J,
Zaroff CM,
Kolodny EH
Genet Med
2005 Feb;7(2):119-23.
doi: 10.1097/01.gim.0000154300.84107.75.
PMID: 15714079
Therapy
Akli S,
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Lacorte JM,
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Kahn A,
Poenaru L
Hum Mol Genet
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PMID: 8490625
Prognosis
Karataş MÇ,
Yazıcı H,
Bozacı AE,
Canda E,
Levent E,
Uçar SK,
Çoker M
Arch Argent Pediatr
2022 Feb;120(1):e25-e28.
Epub 2022 Jan 1
doi: 10.5546/aap.2022.eng.e25.
PMID: 35068126
Májovská J,
Hennig A,
Nestrasil I,
Schneider SA,
Jahnová H,
Vaněčková M,
Magner M,
Dušek P
Neurol Sci
2022 May;43(5):3273-3281.
Epub 2021 Nov 20
doi: 10.1007/s10072-021-05757-3.
PMID: 34800199
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
Jahnová H,
Poupětová H,
Jirečková J,
Vlášková H,
Košťálová E,
Mazanec R,
Zumrová A,
Mečíř P,
Mušová Z,
Magner M
J Neurol
2019 Aug;266(8):1953-1959.
Epub 2019 May 10
doi: 10.1007/s00415-019-09364-3.
PMID: 31076878
Neudorfer O,
Pastores GM,
Zeng BJ,
Gianutsos J,
Zaroff CM,
Kolodny EH
Genet Med
2005 Feb;7(2):119-23.
doi: 10.1097/01.gim.0000154300.84107.75.
PMID: 15714079
Clinical prediction guides
Osmon KJ,
Thompson P,
Woodley E,
Karumuthil-Melethil S,
Heindel C,
Keimel JG,
Kaemmerer WF,
Gray SJ,
Walia JS
Curr Gene Ther
2022;22(3):262-276.
doi: 10.2174/1566523221666210916153051.
PMID: 34530708
Grosso S,
Farnetani MA,
Berardi R,
Margollicci M,
Galluzzi P,
Vivarelli R,
Morgese G,
Ballestri P
J Neurol
2003 Jan;250(1):17-21.
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PMID: 12527987
Brown CA,
Mahuran DJ
Am J Hum Genet
1993 Aug;53(2):497-508.
PMID: 8328462Free PMC Article
Triggs-Raine BL,
Feigenbaum AS,
Natowicz M,
Skomorowski MA,
Schuster SM,
Clarke JT,
Mahuran DJ,
Kolodny EH,
Gravel RA
N Engl J Med
1990 Jul 5;323(1):6-12.
doi: 10.1056/NEJM199007053230102.
PMID: 2355960
Lowden JA,
Zuker S,
Wilensky AJ,
Skomorowski MA
Can Med Assoc J
1974 Aug 3;111(3):229-33.
PMID: 4854206Free PMC Article