Etiology
Mochel F,
Gras D,
Luton MP,
Nizou M,
Giovannini D,
Delattre C,
Aubart M,
Barth M,
De Saint-Martin A,
Doummar D,
Essid N,
Garros A,
Le Camus CH,
Hoebeke C,
The Tich SN,
Perivier M,
Rivera S,
Rolland A,
Roubertie A,
Sarret C,
Sevin C,
Ville D,
Sitbon M,
Costa JM,
Pons R,
Garcia-Cazorla A,
Vuillaumier S,
Petit V,
Boespflug-Tanguy O,
De Vivo DC;
MetaGlut1 Study Group
Neurology
2023 Jun 6;100(23):e2360-e2373.
Epub 2023 Apr 19
doi: 10.1212/WNL.0000000000207296.
PMID: 37076312Free PMC Article
Fernández-Eulate G,
Carreau C,
Benoist JF,
Lamari F,
Rucheton B,
Shor N,
Nadjar Y
J Neurol Neurosurg Psychiatry
2022 Apr;93(4):413-421.
Epub 2022 Feb 9
doi: 10.1136/jnnp-2021-328045.
PMID: 35140137Free PMC Article
Carecchio M
Int Rev Neurobiol
2019;149:355-376.
Epub 2019 Nov 21
doi: 10.1016/bs.irn.2019.10.009.
PMID: 31779820
Haas RH,
Parikh S,
Falk MJ,
Saneto RP,
Wolf NI,
Darin N,
Cohen BH
Pediatrics
2007 Dec;120(6):1326-33.
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PMID: 18055683
Hagberg B
Eur J Pediatr
1990 Feb;149(5):296-305.
doi: 10.1007/BF02171552.
PMID: 2155788
Diagnosis
Fernández-Eulate G,
Carreau C,
Benoist JF,
Lamari F,
Rucheton B,
Shor N,
Nadjar Y
J Neurol Neurosurg Psychiatry
2022 Apr;93(4):413-421.
Epub 2022 Feb 9
doi: 10.1136/jnnp-2021-328045.
PMID: 35140137Free PMC Article
Honey MIJ,
Jaspers YRJ,
Engelen M,
Kemp S,
Huffnagel IC
Cells
2021 Dec 6;10(12)
doi: 10.3390/cells10123427.
PMID: 34943935Free PMC Article
Carecchio M
Int Rev Neurobiol
2019;149:355-376.
Epub 2019 Nov 21
doi: 10.1016/bs.irn.2019.10.009.
PMID: 31779820
Pierre G
Arch Dis Child
2013 Aug;98(8):618-24.
Epub 2013 May 22
doi: 10.1136/archdischild-2012-302840.
PMID: 23698595
Filiano JJ
Clin Perinatol
2006 Jun;33(2):411-79.
doi: 10.1016/j.clp.2006.03.013.
PMID: 16765732
Therapy
Begley D,
Gabathuler R,
Pastores G,
Garcia-Cazorla A,
Ardigò D,
Scarpa M,
Tomanin R,
Tosi G
Expert Opin Drug Deliv
2024 Jun;21(6):817-828.
Epub 2024 Jul 4
doi: 10.1080/17425247.2024.2375388.
PMID: 38963225
Honey MIJ,
Jaspers YRJ,
Engelen M,
Kemp S,
Huffnagel IC
Cells
2021 Dec 6;10(12)
doi: 10.3390/cells10123427.
PMID: 34943935Free PMC Article
Wyse ATS,
Grings M,
Wajner M,
Leipnitz G
Neurotox Res
2019 Feb;35(2):484-494.
Epub 2018 Dec 5
doi: 10.1007/s12640-018-9986-z.
PMID: 30515714
Ridler C
Nat Rev Neurol
2017 Oct;13(10):576-577.
Epub 2017 Aug 29
doi: 10.1038/nrneurol.2017.124.
PMID: 28849784
Giannuzzi V,
Devlieger H,
Margari L,
Odlind VL,
Ragab L,
Bellettato CM,
D'Avanzo F,
Lampe C,
Cassis L,
Cortès-Saladelafont E,
Cazorla ÁG,
Barić I,
Cvitanović-Šojat L,
Fumić K,
Dali CI,
Bartoloni F,
Bonifazi F,
Scarpa M,
Ceci A
Eur J Pediatr
2017 Mar;176(3):395-405.
Epub 2017 Jan 16
doi: 10.1007/s00431-017-2852-9.
PMID: 28093642Free PMC Article
Prognosis
Kemp S,
Orsini JJ,
Ebberink MS,
Engelen M,
Lund TC
Mol Genet Metab
2023 Sep-Oct;140(1-2):107678.
Epub 2023 Aug 3
doi: 10.1016/j.ymgme.2023.107678.
PMID: 37574344
Mochel F,
Gras D,
Luton MP,
Nizou M,
Giovannini D,
Delattre C,
Aubart M,
Barth M,
De Saint-Martin A,
Doummar D,
Essid N,
Garros A,
Le Camus CH,
Hoebeke C,
The Tich SN,
Perivier M,
Rivera S,
Rolland A,
Roubertie A,
Sarret C,
Sevin C,
Ville D,
Sitbon M,
Costa JM,
Pons R,
Garcia-Cazorla A,
Vuillaumier S,
Petit V,
Boespflug-Tanguy O,
De Vivo DC;
MetaGlut1 Study Group
Neurology
2023 Jun 6;100(23):e2360-e2373.
Epub 2023 Apr 19
doi: 10.1212/WNL.0000000000207296.
PMID: 37076312Free PMC Article
Schuurmans IME,
Dimitrov B,
Schröter J,
Ribes A,
de la Fuente RP,
Zamora B,
van Karnebeek CDM,
Kölker S,
Garanto A
J Inherit Metab Dis
2023 May;46(3):371-390.
Epub 2023 Apr 16
doi: 10.1002/jimd.12608.
PMID: 37020324
Honey MIJ,
Jaspers YRJ,
Engelen M,
Kemp S,
Huffnagel IC
Cells
2021 Dec 6;10(12)
doi: 10.3390/cells10123427.
PMID: 34943935Free PMC Article
Rivera-Barahona A,
Fulgencio-Covián A,
Pérez-Cerdá C,
Ramos R,
Barry MA,
Ugarte M,
Pérez B,
Richard E,
Desviat LR
Sci Rep
2017 Jul 18;7(1):5727.
doi: 10.1038/s41598-017-06420-8.
PMID: 28720782Free PMC Article
Clinical prediction guides
Martínez-Pizarro A,
Picó S,
López-Márquez A,
Rodriguez-López C,
Montalvo E,
Alvarez M,
Castro M,
Ramón-Maiques S,
Pérez B,
Lucas JJ,
Richard E,
Desviat LR
Hum Mol Genet
2024 Jun 5;33(12):1074-1089.
doi: 10.1093/hmg/ddae051.
PMID: 38520741Free PMC Article
Kemp S,
Orsini JJ,
Ebberink MS,
Engelen M,
Lund TC
Mol Genet Metab
2023 Sep-Oct;140(1-2):107678.
Epub 2023 Aug 3
doi: 10.1016/j.ymgme.2023.107678.
PMID: 37574344
Schuurmans IME,
Dimitrov B,
Schröter J,
Ribes A,
de la Fuente RP,
Zamora B,
van Karnebeek CDM,
Kölker S,
Garanto A
J Inherit Metab Dis
2023 May;46(3):371-390.
Epub 2023 Apr 16
doi: 10.1002/jimd.12608.
PMID: 37020324
Honey MIJ,
Jaspers YRJ,
Engelen M,
Kemp S,
Huffnagel IC
Cells
2021 Dec 6;10(12)
doi: 10.3390/cells10123427.
PMID: 34943935Free PMC Article
Rivera-Barahona A,
Fulgencio-Covián A,
Pérez-Cerdá C,
Ramos R,
Barry MA,
Ugarte M,
Pérez B,
Richard E,
Desviat LR
Sci Rep
2017 Jul 18;7(1):5727.
doi: 10.1038/s41598-017-06420-8.
PMID: 28720782Free PMC Article