Etiology
Giacomini T,
Nuovo S,
Zanni G,
Mancardi MM,
Cusmai R,
Pepi C,
Bertini E,
Valente EM,
Battini R,
Ferrari A,
Romaniello R,
Zucca C,
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Uccella S,
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Pisciotta L
Eur J Paediatr Neurol
2021 Mar;31:61-69.
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PMID: 33640666
Gur-Hartman T,
Berkowitz O,
Yosovich K,
Roubertie A,
Zanni G,
Macaya A,
Heimer G,
Dueñas BP,
Sival DA,
Pode-Shakked B,
López-Laso E,
Humbertclaude V,
Riant F,
Bosco L,
Cayron LB,
Nissenkorn A,
Nicita F,
Bertini E,
Hassin S,
Ben Zeev B,
Zerem A,
Libzon S,
Lev D,
Linder I,
Lerman-Sagie T,
Blumkin L
Eur J Paediatr Neurol
2021 Jan;30:144-154.
Epub 2020 Oct 20
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Blackburn PR,
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Claerhout H,
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J Inherit Metab Dis
2018 Jan;41(1):101-108.
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Eur J Pediatr
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Diagnosis
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Grimmel M,
Ebrahimi-Fakhari D,
Paul VG,
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Riess A,
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Gardella E,
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Clin Genet
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Pavone P,
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Medicine (Baltimore)
2022 Aug 5;101(31):e29413.
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PMID: 35945798Free PMC Article
Giacomini T,
Nuovo S,
Zanni G,
Mancardi MM,
Cusmai R,
Pepi C,
Bertini E,
Valente EM,
Battini R,
Ferrari A,
Romaniello R,
Zucca C,
Borgatti R,
Uccella S,
Severino M,
Striano P,
Pistorio A,
Prato G,
De Grandis E,
Nobili L,
Pisciotta L
Eur J Paediatr Neurol
2021 Mar;31:61-69.
Epub 2021 Feb 19
doi: 10.1016/j.ejpn.2021.02.006.
PMID: 33640666
Kunii M,
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Okubo M,
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J Neurol Sci
2020 Sep 15;416:117047.
Epub 2020 Jul 17
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PMID: 32736238
Claerhout H,
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Jansen K,
Van Hoestenberghe MR,
Breckpot J,
Vermeersch P
J Inherit Metab Dis
2018 Jan;41(1):101-108.
Epub 2017 Oct 4
doi: 10.1007/s10545-017-0089-4.
PMID: 28980090
Therapy
Muthusamy K,
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Prognosis
Pavone P,
Pappalardo XG,
Ruggieri M,
Falsaperla R,
Parano E
Medicine (Baltimore)
2022 Aug 5;101(31):e29413.
doi: 10.1097/MD.0000000000029413.
PMID: 35945798Free PMC Article
Ramadesikan S,
Hickey S,
De Los Reyes E,
Patel AD,
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Brennan P,
Crist E,
Lee K,
White P,
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Cold Spring Harb Mol Case Stud
2022 Feb;8(2)
Epub 2022 Mar 24
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PMID: 35091508Free PMC Article
Giacomini T,
Nuovo S,
Zanni G,
Mancardi MM,
Cusmai R,
Pepi C,
Bertini E,
Valente EM,
Battini R,
Ferrari A,
Romaniello R,
Zucca C,
Borgatti R,
Uccella S,
Severino M,
Striano P,
Pistorio A,
Prato G,
De Grandis E,
Nobili L,
Pisciotta L
Eur J Paediatr Neurol
2021 Mar;31:61-69.
Epub 2021 Feb 19
doi: 10.1016/j.ejpn.2021.02.006.
PMID: 33640666
Van Bergen NJ,
Guo Y,
Al-Deri N,
Lipatova Z,
Stanga D,
Zhao S,
Murtazina R,
Gyurkovska V,
Pehlivan D,
Mitani T,
Gezdirici A,
Antony J,
Collins F,
Willis MJH,
Coban Akdemir ZH,
Liu P,
Punetha J,
Hunter JV,
Jhangiani SN,
Fatih JM,
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Gibbs RA,
Karaca E,
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Sleiman P,
Troedson C,
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Brain
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PMID: 31794024Free PMC Article
Claerhout H,
Witters P,
Régal L,
Jansen K,
Van Hoestenberghe MR,
Breckpot J,
Vermeersch P
J Inherit Metab Dis
2018 Jan;41(1):101-108.
Epub 2017 Oct 4
doi: 10.1007/s10545-017-0089-4.
PMID: 28980090
Clinical prediction guides
Werren EA,
Srinivasan VM,
Gowda VK,
Pandey A,
Vaish S,
Kabbur AR,
Nandeesh BN,
Srivastava A
Am J Med Genet A
2023 Sep;191(9):2446-2450.
Epub 2023 Jun 20
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PMID: 37337918
Ramadesikan S,
Hickey S,
De Los Reyes E,
Patel AD,
Franklin SJ,
Brennan P,
Crist E,
Lee K,
White P,
McBride KL,
Koboldt DC,
Wilson RK
Cold Spring Harb Mol Case Stud
2022 Feb;8(2)
Epub 2022 Mar 24
doi: 10.1101/mcs.a006165.
PMID: 35091508Free PMC Article
Majethia P,
Do Rosario MC,
Kaur P,
Karanvir,
Shankar R,
Sharma S,
Siddiqui S,
Shukla A
Ann Hum Genet
2022 Mar;86(2):94-101.
Epub 2021 Dec 8
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PMID: 34878169Free PMC Article
Gur-Hartman T,
Berkowitz O,
Yosovich K,
Roubertie A,
Zanni G,
Macaya A,
Heimer G,
Dueñas BP,
Sival DA,
Pode-Shakked B,
López-Laso E,
Humbertclaude V,
Riant F,
Bosco L,
Cayron LB,
Nissenkorn A,
Nicita F,
Bertini E,
Hassin S,
Ben Zeev B,
Zerem A,
Libzon S,
Lev D,
Linder I,
Lerman-Sagie T,
Blumkin L
Eur J Paediatr Neurol
2021 Jan;30:144-154.
Epub 2020 Oct 20
doi: 10.1016/j.ejpn.2020.10.004.
PMID: 33349592
Claerhout H,
Witters P,
Régal L,
Jansen K,
Van Hoestenberghe MR,
Breckpot J,
Vermeersch P
J Inherit Metab Dis
2018 Jan;41(1):101-108.
Epub 2017 Oct 4
doi: 10.1007/s10545-017-0089-4.
PMID: 28980090