Etiology
Angelova P,
Velchev V,
Stoyanov N,
Atemin S,
Todorov T,
Tourtourikov I,
Mitev V,
Todorova A
Am J Med Genet A
2023 Jul;191(7):1804-1813.
Epub 2023 Apr 7
doi: 10.1002/ajmg.a.63205.
PMID: 37029485
Ni M,
Black LF,
Pan C,
Vu H,
Pei J,
Ko B,
Cai L,
Solmonson A,
Yang C,
Nugent KM,
Grishin NV,
Xing C,
Roeder E,
DeBerardinis RJ
J Inherit Metab Dis
2021 Jul;44(4):949-960.
Epub 2021 Apr 27
doi: 10.1002/jimd.12387.
PMID: 33855712Free PMC Article
O'Byrne JJ,
Tarailo-Graovac M,
Ghani A,
Champion M,
Deshpande C,
Dursun A,
Ozgul RK,
Freisinger P,
Garber I,
Haack TB,
Horvath R,
Barić I,
Husain RA,
Kluijtmans LAJ,
Kotzaeridou U,
Morris AA,
Ross CJ,
Santra S,
Smeitink J,
Tarnopolsky M,
Wortmann SB,
Mayr JA,
Brunner-Krainz M,
Prokisch H,
Wasserman WW,
Wevers RA,
Engelke UF,
Rodenburg RJ,
Ting TW,
McFarland R,
Taylor RW,
Salvarinova R,
van Karnebeek CDM
Mol Genet Metab
2018 Jan;123(1):28-42.
Epub 2017 Nov 15
doi: 10.1016/j.ymgme.2017.11.003.
PMID: 29331171Free PMC Article
van Diemen CC,
Kerstjens-Frederikse WS,
Bergman KA,
de Koning TJ,
Sikkema-Raddatz B,
van der Velde JK,
Abbott KM,
Herkert JC,
Löhner K,
Rump P,
Meems-Veldhuis MT,
Neerincx PBT,
Jongbloed JDH,
van Ravenswaaij-Arts CM,
Swertz MA,
Sinke RJ,
van Langen IM,
Wijmenga C
Pediatrics
2017 Oct;140(4)
doi: 10.1542/peds.2016-2854.
PMID: 28939701
Pena JA,
Lotze T,
Yang Y,
Umana L,
Walkiewicz M,
Hunter JV,
Scaglia F
J Child Neurol
2016 Feb;31(2):215-9.
Epub 2015 Jun 9
doi: 10.1177/0883073815587946.
PMID: 26060307
Diagnosis
Li L,
Ma J,
Wang J,
Dong L,
Liu S
Eur J Med Res
2022 Sep 26;27(1):184.
doi: 10.1186/s40001-022-00808-7.
PMID: 36155627Free PMC Article
Ji Y,
Wang S,
Cheng Y,
Fang L,
Zhao J,
Gao L,
Xu C
Gene
2021 Dec 15;804:145891.
Epub 2021 Aug 8
doi: 10.1016/j.gene.2021.145891.
PMID: 34375635
Alsharhan H,
Muraresku C,
Ganetzky RD
Am J Med Genet A
2021 Aug;185(8):2519-2525.
Epub 2021 May 19
doi: 10.1002/ajmg.a.62344.
PMID: 34008913
van Diemen CC,
Kerstjens-Frederikse WS,
Bergman KA,
de Koning TJ,
Sikkema-Raddatz B,
van der Velde JK,
Abbott KM,
Herkert JC,
Löhner K,
Rump P,
Meems-Veldhuis MT,
Neerincx PBT,
Jongbloed JDH,
van Ravenswaaij-Arts CM,
Swertz MA,
Sinke RJ,
van Langen IM,
Wijmenga C
Pediatrics
2017 Oct;140(4)
doi: 10.1542/peds.2016-2854.
PMID: 28939701
Alfadhel M,
Nashabat M,
Abu Ali Q,
Hundallah K
Neurosciences (Riyadh)
2017 Jan;22(1):4-13.
doi: 10.17712/nsj.2017.1.20160542.
PMID: 28064324Free PMC Article
Therapy
van Diemen CC,
Kerstjens-Frederikse WS,
Bergman KA,
de Koning TJ,
Sikkema-Raddatz B,
van der Velde JK,
Abbott KM,
Herkert JC,
Löhner K,
Rump P,
Meems-Veldhuis MT,
Neerincx PBT,
Jongbloed JDH,
van Ravenswaaij-Arts CM,
Swertz MA,
Sinke RJ,
van Langen IM,
Wijmenga C
Pediatrics
2017 Oct;140(4)
doi: 10.1542/peds.2016-2854.
PMID: 28939701
Raviglione F,
Conte G,
Ghezzi D,
Parazzini C,
Righini A,
Vergaro R,
Legati A,
Spaccini L,
Gasperini S,
Garavaglia B,
Mastrangelo M
Am J Med Genet A
2016 Nov;170(11):3004-3007.
Epub 2016 Aug 23
doi: 10.1002/ajmg.a.37836.
PMID: 27549011
Prognosis
Ji Y,
Wang S,
Cheng Y,
Fang L,
Zhao J,
Gao L,
Xu C
Gene
2021 Dec 15;804:145891.
Epub 2021 Aug 8
doi: 10.1016/j.gene.2021.145891.
PMID: 34375635
Li X,
Peng B,
Hou C,
Li J,
Zeng Y,
Wu W,
Liao Y,
Tian Y,
Chen WX
BMC Med Genet
2020 Nov 5;21(1):217.
doi: 10.1186/s12881-020-01149-0.
PMID: 33153448Free PMC Article
Oziębło D,
Pazik J,
Stępniak I,
Skarżyński H,
Ołdak M
Genes (Basel)
2020 Sep 8;11(9)
doi: 10.3390/genes11091060.
PMID: 32911714Free PMC Article
van Diemen CC,
Kerstjens-Frederikse WS,
Bergman KA,
de Koning TJ,
Sikkema-Raddatz B,
van der Velde JK,
Abbott KM,
Herkert JC,
Löhner K,
Rump P,
Meems-Veldhuis MT,
Neerincx PBT,
Jongbloed JDH,
van Ravenswaaij-Arts CM,
Swertz MA,
Sinke RJ,
van Langen IM,
Wijmenga C
Pediatrics
2017 Oct;140(4)
doi: 10.1542/peds.2016-2854.
PMID: 28939701
Heidary G,
Calderwood L,
Cox GF,
Robson CD,
Teot LA,
Mullon J,
Anselm I
J Neuroophthalmol
2014 Mar;34(1):39-43.
doi: 10.1097/WNO.0000000000000076.
PMID: 24284555
Clinical prediction guides
Smith TB,
Rea A,
Thomas HB,
Thompson K,
Oláhová M,
Maroofian R,
Zamani M,
He L,
Sadeghian S,
Galehdari H,
Lotan NS,
Gilboa T,
Herman KC,
McCorvie TJ,
Yue WW,
Houlden H,
Taylor RW,
Newman WG,
O'Keefe RT
Eur J Hum Genet
2023 Oct;31(10):1190-1194.
Epub 2023 Aug 9
doi: 10.1038/s41431-023-01437-2.
PMID: 37558808Free PMC Article
Angelova P,
Velchev V,
Stoyanov N,
Atemin S,
Todorov T,
Tourtourikov I,
Mitev V,
Todorova A
Am J Med Genet A
2023 Jul;191(7):1804-1813.
Epub 2023 Apr 7
doi: 10.1002/ajmg.a.63205.
PMID: 37029485
Wu S,
Li W,
Bai Z,
Huang S,
Yang D,
Chen H,
Li Y,
Liu Y,
Lv H
BMC Pediatr
2022 Feb 2;22(1):74.
doi: 10.1186/s12887-022-03138-z.
PMID: 35109800Free PMC Article
Ji Y,
Wang S,
Cheng Y,
Fang L,
Zhao J,
Gao L,
Xu C
Gene
2021 Dec 15;804:145891.
Epub 2021 Aug 8
doi: 10.1016/j.gene.2021.145891.
PMID: 34375635
O'Byrne JJ,
Tarailo-Graovac M,
Ghani A,
Champion M,
Deshpande C,
Dursun A,
Ozgul RK,
Freisinger P,
Garber I,
Haack TB,
Horvath R,
Barić I,
Husain RA,
Kluijtmans LAJ,
Kotzaeridou U,
Morris AA,
Ross CJ,
Santra S,
Smeitink J,
Tarnopolsky M,
Wortmann SB,
Mayr JA,
Brunner-Krainz M,
Prokisch H,
Wasserman WW,
Wevers RA,
Engelke UF,
Rodenburg RJ,
Ting TW,
McFarland R,
Taylor RW,
Salvarinova R,
van Karnebeek CDM
Mol Genet Metab
2018 Jan;123(1):28-42.
Epub 2017 Nov 15
doi: 10.1016/j.ymgme.2017.11.003.
PMID: 29331171Free PMC Article