Etiology
Koch RL,
Soler-Alfonso C,
Kiely BT,
Asai A,
Smith AL,
Bali DS,
Kang PB,
Landstrom AP,
Akman HO,
Burrow TA,
Orthmann-Murphy JL,
Goldman DS,
Pendyal S,
El-Gharbawy AH,
Austin SL,
Case LE,
Schiffmann R,
Hirano M,
Kishnani PS
Mol Genet Metab
2023 Mar;138(3):107525.
Epub 2023 Jan 25
doi: 10.1016/j.ymgme.2023.107525.
PMID: 36796138
Jefferies JL,
Spencer AK,
Lau HA,
Nelson MW,
Giuliano JD,
Zabinski JW,
Boussios C,
Curhan G,
Gliklich RE,
Warnock DG
Orphanet J Rare Dis
2021 Dec 20;16(1):518.
doi: 10.1186/s13023-021-02150-3.
PMID: 34930374Free PMC Article
Cenacchi G,
Papa V,
Costa R,
Pegoraro V,
Marozzo R,
Fanin M,
Angelini C
Virchows Arch
2019 Dec;475(6):671-686.
Epub 2019 Jul 30
doi: 10.1007/s00428-019-02633-6.
PMID: 31363843
Hedberg-Oldfors C,
Oldfors A
Mol Aspects Med
2015 Dec;46:85-100.
Epub 2015 Aug 13
doi: 10.1016/j.mam.2015.08.006.
PMID: 26278982
Schoser B,
Bruno C,
Schneider HC,
Shin YS,
Podskarbi T,
Goldfarb L,
Müller-Felber W,
Müller-Höcker J
Mol Genet Metab
2008 Sep-Oct;95(1-2):52-8.
Epub 2008 Aug 8
doi: 10.1016/j.ymgme.2008.07.005.
PMID: 18691923Free PMC Article
Diagnosis
Koch RL,
Soler-Alfonso C,
Kiely BT,
Asai A,
Smith AL,
Bali DS,
Kang PB,
Landstrom AP,
Akman HO,
Burrow TA,
Orthmann-Murphy JL,
Goldman DS,
Pendyal S,
El-Gharbawy AH,
Austin SL,
Case LE,
Schiffmann R,
Hirano M,
Kishnani PS
Mol Genet Metab
2023 Mar;138(3):107525.
Epub 2023 Jan 25
doi: 10.1016/j.ymgme.2023.107525.
PMID: 36796138
Jefferies JL,
Spencer AK,
Lau HA,
Nelson MW,
Giuliano JD,
Zabinski JW,
Boussios C,
Curhan G,
Gliklich RE,
Warnock DG
Orphanet J Rare Dis
2021 Dec 20;16(1):518.
doi: 10.1186/s13023-021-02150-3.
PMID: 34930374Free PMC Article
Cenacchi G,
Papa V,
Costa R,
Pegoraro V,
Marozzo R,
Fanin M,
Angelini C
Virchows Arch
2019 Dec;475(6):671-686.
Epub 2019 Jul 30
doi: 10.1007/s00428-019-02633-6.
PMID: 31363843
Moses SW,
Parvari R
Curr Mol Med
2002 Mar;2(2):177-88.
doi: 10.2174/1566524024605815.
PMID: 11949934
Gray F,
Gherardi R,
Marshall A,
Janota I,
Poirier J
J Neuropathol Exp Neurol
1988 Jul;47(4):459-74.
doi: 10.1097/00005072-198807000-00007.
PMID: 2838589
Therapy
Yi H,
Zhang Q,
Brooks ED,
Yang C,
Thurberg BL,
Kishnani PS,
Sun B
Hum Gene Ther
2017 Mar;28(3):286-294.
Epub 2016 Nov 10
doi: 10.1089/hum.2016.099.
PMID: 27832700
Prognosis
MozafaryBazargany M,
Esmaeili S,
Hesami M,
Houshmand G,
Mahdavi M,
Maleki M,
Kalayinia S
ESC Heart Fail
2024 Jun;11(3):1472-1482.
Epub 2024 Feb 8
doi: 10.1002/ehf2.14702.
PMID: 38329383Free PMC Article
Jefferies JL,
Spencer AK,
Lau HA,
Nelson MW,
Giuliano JD,
Zabinski JW,
Boussios C,
Curhan G,
Gliklich RE,
Warnock DG
Orphanet J Rare Dis
2021 Dec 20;16(1):518.
doi: 10.1186/s13023-021-02150-3.
PMID: 34930374Free PMC Article
Lamperti C,
Salani S,
Lucchiari S,
Bordoni A,
Ripolone M,
Fagiolari G,
Fruguglietti ME,
Crugnola V,
Colombo C,
Cappellini A,
Prelle A,
Bresolin N,
Comi GP,
Moggio M
J Inherit Metab Dis
2009 Dec;32 Suppl 1:S161-8.
Epub 2009 Apr 8
doi: 10.1007/s10545-009-1134-8.
PMID: 19357989
Clinical prediction guides
MozafaryBazargany M,
Esmaeili S,
Hesami M,
Houshmand G,
Mahdavi M,
Maleki M,
Kalayinia S
ESC Heart Fail
2024 Jun;11(3):1472-1482.
Epub 2024 Feb 8
doi: 10.1002/ehf2.14702.
PMID: 38329383Free PMC Article
Jefferies JL,
Spencer AK,
Lau HA,
Nelson MW,
Giuliano JD,
Zabinski JW,
Boussios C,
Curhan G,
Gliklich RE,
Warnock DG
Orphanet J Rare Dis
2021 Dec 20;16(1):518.
doi: 10.1186/s13023-021-02150-3.
PMID: 34930374Free PMC Article
Chambers JK,
Thongtharb A,
Shiga T,
Azakami D,
Saito M,
Sato M,
Morozumi M,
Nakayama H,
Uchida K
Vet Pathol
2018 Jul;55(4):543-551.
Epub 2018 Feb 14
doi: 10.1177/0300985818758471.
PMID: 29444631