Etiology
Kern J,
Böhringer J,
Timmann D,
Trollmann R,
Stendel C,
Kamm C,
Röbl M,
Santhanakumaran V,
Groeschel S,
Beck-Wödl S,
Göricke S,
Krägeloh-Mann I,
Synofzik M
Neurology
2024 Jan 9;102(1):e207898.
Epub 2023 Dec 12
doi: 10.1212/WNL.0000000000207898.
PMID: 38165373Free PMC Article
Mansouri V,
Tavasoli AR,
Khodarahmi M,
Dakkali MS,
Daneshfar S,
Ashrafi MR,
Heidari M,
Hosseinpour S,
Sharifianjazi F,
Bemanalizadeh M
Eur J Neurol
2023 Sep;30(9):2919-2945.
Epub 2023 Jun 8
doi: 10.1111/ene.15871.
PMID: 37209042
Blondel A,
Kraoua I,
Marcelino C,
Khrouf W,
Schlemmer D,
Ganne B,
Caillaud C,
Fernández-Eulate G,
Turki IBY,
Dauriat B,
Bonnefont-Rousselot D,
Nadjar Y,
Lamari F
Mol Genet Metab
2023 Feb;138(2):106983.
Epub 2022 Dec 26
doi: 10.1016/j.ymgme.2022.106983.
PMID: 36709536
Shibuya M,
Uneoka S,
Onuma A,
Kodama K,
Endo W,
Okubo Y,
Inui T,
Togashi N,
Nakashima I,
Hino-Fukuyo N,
Ida H,
Miyatake S,
Matsumoto N,
Haginoya K
Brain Dev
2021 Nov;43(10):1029-1032.
Epub 2021 Jul 1
doi: 10.1016/j.braindev.2021.06.007.
PMID: 34217565
Zhang J,
Chen H,
Kornreich R,
Yu C
Methods Mol Biol
2019;1885:233-250.
doi: 10.1007/978-1-4939-8889-1_16.
PMID: 30506202
Diagnosis
Kern J,
Böhringer J,
Timmann D,
Trollmann R,
Stendel C,
Kamm C,
Röbl M,
Santhanakumaran V,
Groeschel S,
Beck-Wödl S,
Göricke S,
Krägeloh-Mann I,
Synofzik M
Neurology
2024 Jan 9;102(1):e207898.
Epub 2023 Dec 12
doi: 10.1212/WNL.0000000000207898.
PMID: 38165373Free PMC Article
Mansouri V,
Tavasoli AR,
Khodarahmi M,
Dakkali MS,
Daneshfar S,
Ashrafi MR,
Heidari M,
Hosseinpour S,
Sharifianjazi F,
Bemanalizadeh M
Eur J Neurol
2023 Sep;30(9):2919-2945.
Epub 2023 Jun 8
doi: 10.1111/ene.15871.
PMID: 37209042
Sakurai M,
Azuma J,
Hamada Y,
Yamamoto T,
Sakai N
Pediatr Int
2019 Jun;61(6):611-613.
doi: 10.1111/ped.13848.
PMID: 31242539
Menkes JH,
O'Brien JS,
Okada S,
Grippo J,
Andrews JM,
Cancilla PA
Arch Neurol
1971 Jul;25(1):14-22.
doi: 10.1001/archneur.1971.00490010024003.
PMID: 5146406
Suzuki K,
Rapin I,
Suzuki Y,
Ishii N
Neurology
1970 Feb;20(2):190-204.
doi: 10.1212/wnl.20.2.190.
PMID: 5460705
Therapy
Kern J,
Böhringer J,
Timmann D,
Trollmann R,
Stendel C,
Kamm C,
Röbl M,
Santhanakumaran V,
Groeschel S,
Beck-Wödl S,
Göricke S,
Krägeloh-Mann I,
Synofzik M
Neurology
2024 Jan 9;102(1):e207898.
Epub 2023 Dec 12
doi: 10.1212/WNL.0000000000207898.
PMID: 38165373Free PMC Article
Mansouri V,
Tavasoli AR,
Khodarahmi M,
Dakkali MS,
Daneshfar S,
Ashrafi MR,
Heidari M,
Hosseinpour S,
Sharifianjazi F,
Bemanalizadeh M
Eur J Neurol
2023 Sep;30(9):2919-2945.
Epub 2023 Jun 8
doi: 10.1111/ene.15871.
PMID: 37209042
Maegawa GH,
Banwell BL,
Blaser S,
Sorge G,
Toplak M,
Ackerley C,
Hawkins C,
Hayes J,
Clarke JT
Mol Genet Metab
2009 Sep-Oct;98(1-2):215-24.
Epub 2009 Jun 12
doi: 10.1016/j.ymgme.2009.06.005.
PMID: 19595619
Maegawa GH,
van Giersbergen PL,
Yang S,
Banwell B,
Morgan CP,
Dingemanse J,
Tifft CJ,
Clarke JT
Mol Genet Metab
2009 Aug;97(4):284-91.
Epub 2009 May 3
doi: 10.1016/j.ymgme.2009.04.013.
PMID: 19447653
Sakuragawa N,
Yoshikawa H,
Sasaki M
Brain Dev
1992 Jan;14(1):7-11.
doi: 10.1016/s0387-7604(12)80272-5.
PMID: 1590532
Prognosis
Kern J,
Böhringer J,
Timmann D,
Trollmann R,
Stendel C,
Kamm C,
Röbl M,
Santhanakumaran V,
Groeschel S,
Beck-Wödl S,
Göricke S,
Krägeloh-Mann I,
Synofzik M
Neurology
2024 Jan 9;102(1):e207898.
Epub 2023 Dec 12
doi: 10.1212/WNL.0000000000207898.
PMID: 38165373Free PMC Article
Blondel A,
Kraoua I,
Marcelino C,
Khrouf W,
Schlemmer D,
Ganne B,
Caillaud C,
Fernández-Eulate G,
Turki IBY,
Dauriat B,
Bonnefont-Rousselot D,
Nadjar Y,
Lamari F
Mol Genet Metab
2023 Feb;138(2):106983.
Epub 2022 Dec 26
doi: 10.1016/j.ymgme.2022.106983.
PMID: 36709536
Shibuya M,
Uneoka S,
Onuma A,
Kodama K,
Endo W,
Okubo Y,
Inui T,
Togashi N,
Nakashima I,
Hino-Fukuyo N,
Ida H,
Miyatake S,
Matsumoto N,
Haginoya K
Brain Dev
2021 Nov;43(10):1029-1032.
Epub 2021 Jul 1
doi: 10.1016/j.braindev.2021.06.007.
PMID: 34217565
Maegawa GH,
Stockley T,
Tropak M,
Banwell B,
Blaser S,
Kok F,
Giugliani R,
Mahuran D,
Clarke JT
Pediatrics
2006 Nov;118(5):e1550-62.
Epub 2006 Oct 2
doi: 10.1542/peds.2006-0588.
PMID: 17015493Free PMC Article
Trop I,
Kaplan F,
Brown C,
Mahuran D,
Hechtman P
Hum Mutat
1992;1(1):35-9.
doi: 10.1002/humu.1380010106.
PMID: 1301189
Clinical prediction guides
Kern J,
Böhringer J,
Timmann D,
Trollmann R,
Stendel C,
Kamm C,
Röbl M,
Santhanakumaran V,
Groeschel S,
Beck-Wödl S,
Göricke S,
Krägeloh-Mann I,
Synofzik M
Neurology
2024 Jan 9;102(1):e207898.
Epub 2023 Dec 12
doi: 10.1212/WNL.0000000000207898.
PMID: 38165373Free PMC Article
Mansouri V,
Tavasoli AR,
Khodarahmi M,
Dakkali MS,
Daneshfar S,
Ashrafi MR,
Heidari M,
Hosseinpour S,
Sharifianjazi F,
Bemanalizadeh M
Eur J Neurol
2023 Sep;30(9):2919-2945.
Epub 2023 Jun 8
doi: 10.1111/ene.15871.
PMID: 37209042
Han ST,
Hirt A,
Nicoli ER,
Kono M,
Toro C,
Proia RL,
Tifft CJ
J Inherit Metab Dis
2023 Jul;46(4):687-694.
Epub 2023 Feb 5
doi: 10.1002/jimd.12596.
PMID: 36700853Free PMC Article
Maegawa GH,
Stockley T,
Tropak M,
Banwell B,
Blaser S,
Kok F,
Giugliani R,
Mahuran D,
Clarke JT
Pediatrics
2006 Nov;118(5):e1550-62.
Epub 2006 Oct 2
doi: 10.1542/peds.2006-0588.
PMID: 17015493Free PMC Article
Trop I,
Kaplan F,
Brown C,
Mahuran D,
Hechtman P
Hum Mutat
1992;1(1):35-9.
doi: 10.1002/humu.1380010106.
PMID: 1301189