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
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
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
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
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
Cheema HA,
Waheed N,
Saeed A
BMJ Case Rep
2019 Sep 12;12(9)
doi: 10.1136/bcr-2019-230140.
PMID: 31519716Free 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
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
Tallaksen CM,
Berg JE
J Inherit Metab Dis
2009 Dec;32 Suppl 1:S289-93.
Epub 2009 Nov 4
doi: 10.1007/s10545-009-1224-7.
PMID: 19898953
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
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
Nestrasil I,
Ahmed A,
Utz JM,
Rudser K,
Whitley CB,
Jarnes-Utz JR
Mol Genet Metab
2018 Feb;123(2):97-104.
Epub 2017 Dec 20
doi: 10.1016/j.ymgme.2017.12.432.
PMID: 29352662Free 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
Rapin I
Adv Neurol
1986;43:65-85.
PMID: 3080854
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,
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
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