Etiology
Hwang N,
Jang JH,
Cho EH,
Choi R,
Choi SJ,
Park HD
Mol Genet Genomic Med
2021 Nov;9(11):e1838.
Epub 2021 Oct 16
doi: 10.1002/mgg3.1838.
PMID: 34655177Free PMC Article
Yang N,
Gong LF,
Zhao JQ,
Yang HH,
Ma ZJ,
Liu W,
Wan ZH,
Kong YY
J Pediatr Endocrinol Metab
2020 May 26;33(5):639-645.
doi: 10.1515/jpem-2019-0420.
PMID: 32304307
Gizicki R,
Robert MC,
Gómez-López L,
Orquin J,
Decarie JC,
Mitchell GA,
Roy MS,
Ospina LH
Ophthalmology
2014 Jan;121(1):381-386.
Epub 2013 Oct 11
doi: 10.1016/j.ophtha.2013.08.034.
PMID: 24126030
Carrillo-Carrasco N,
Venditti CP
J Inherit Metab Dis
2012 Jan;35(1):103-14.
Epub 2011 Jul 12
doi: 10.1007/s10545-011-9365-x.
PMID: 21748408Free PMC Article
Wang F,
Han L,
Yang Y,
Gu X,
Ye J,
Qiu W,
Zhang H,
Zhang Y,
Gao X,
Wang Y
J Inherit Metab Dis
2010 Dec;33 Suppl 3:S435-42.
Epub 2010 Oct 6
doi: 10.1007/s10545-010-9217-0.
PMID: 20924684
Diagnosis
Han B,
Cao Z,
Tian L,
Zou H,
Yang L,
Zhu W,
Liu Y
Brain Dev
2016 May;38(5):491-7.
Epub 2015 Nov 10
doi: 10.1016/j.braindev.2015.10.016.
PMID: 26563984
Liu Y,
Wang Q,
Li X,
Ding Y,
Song J,
Yang Y
Brain Dev
2015 Mar;37(3):286-91.
Epub 2014 Jun 25
doi: 10.1016/j.braindev.2014.06.007.
PMID: 24974159
Carrillo-Carrasco N,
Chandler RJ,
Venditti CP
J Inherit Metab Dis
2012 Jan;35(1):91-102.
Epub 2011 Jul 12
doi: 10.1007/s10545-011-9364-y.
PMID: 21748409Free PMC Article
Carrillo-Carrasco N,
Venditti CP
J Inherit Metab Dis
2012 Jan;35(1):103-14.
Epub 2011 Jul 12
doi: 10.1007/s10545-011-9365-x.
PMID: 21748408Free PMC Article
Wang F,
Han L,
Yang Y,
Gu X,
Ye J,
Qiu W,
Zhang H,
Zhang Y,
Gao X,
Wang Y
J Inherit Metab Dis
2010 Dec;33 Suppl 3:S435-42.
Epub 2010 Oct 6
doi: 10.1007/s10545-010-9217-0.
PMID: 20924684
Therapy
Nguyen MG,
Tronick L,
Modirian F,
Mardach R,
Besterman AD
Cold Spring Harb Mol Case Stud
2022 Feb;8(2)
Epub 2022 Mar 24
doi: 10.1101/mcs.a006179.
PMID: 35105663Free PMC Article
Myles JG,
Manoli I,
Venditti CP
Curr Opin Clin Nutr Metab Care
2018 Jan;21(1):42-48.
doi: 10.1097/MCO.0000000000000428.
PMID: 29035969Free PMC Article
Brooks BP,
Thompson AH,
Sloan JL,
Manoli I,
Carrillo-Carrasco N,
Zein WM,
Venditti CP
Ophthalmology
2016 Mar;123(3):571-82.
Epub 2016 Jan 26
doi: 10.1016/j.ophtha.2015.10.041.
PMID: 26825575Free PMC Article
Collison FT,
Xie YA,
Gambin T,
Jhangiani S,
Muzny D,
Gibbs R,
Lupski JR,
Fishman GA,
Allikmets R
Ophthalmic Genet
2015;36(3):270-5.
doi: 10.3109/13816810.2015.1010736.
PMID: 25687216Free PMC Article
Brunel-Guitton C,
Costa T,
Mitchell GA,
Lambert M
J Inherit Metab Dis
2010 Dec;33 Suppl 3:S409-12.
Epub 2010 Sep 10
doi: 10.1007/s10545-010-9202-7.
PMID: 20830523
Prognosis
Myles JG,
Manoli I,
Venditti CP
Curr Opin Clin Nutr Metab Care
2018 Jan;21(1):42-48.
doi: 10.1097/MCO.0000000000000428.
PMID: 29035969Free PMC Article
Whitaker AM,
Thomas NH,
Krivitzky LS,
Ficicioglu CH
Appl Neuropsychol Child
2018 Apr-Jun;7(2):143-149.
Epub 2017 Jan 10
doi: 10.1080/21622965.2016.1270211.
PMID: 28071971
Brooks BP,
Thompson AH,
Sloan JL,
Manoli I,
Carrillo-Carrasco N,
Zein WM,
Venditti CP
Ophthalmology
2016 Mar;123(3):571-82.
Epub 2016 Jan 26
doi: 10.1016/j.ophtha.2015.10.041.
PMID: 26825575Free PMC Article
Liu Y,
Wang Q,
Li X,
Ding Y,
Song J,
Yang Y
Brain Dev
2015 Mar;37(3):286-91.
Epub 2014 Jun 25
doi: 10.1016/j.braindev.2014.06.007.
PMID: 24974159
Gizicki R,
Robert MC,
Gómez-López L,
Orquin J,
Decarie JC,
Mitchell GA,
Roy MS,
Ospina LH
Ophthalmology
2014 Jan;121(1):381-386.
Epub 2013 Oct 11
doi: 10.1016/j.ophtha.2013.08.034.
PMID: 24126030
Clinical prediction guides
Yang N,
Gong LF,
Zhao JQ,
Yang HH,
Ma ZJ,
Liu W,
Wan ZH,
Kong YY
J Pediatr Endocrinol Metab
2020 May 26;33(5):639-645.
doi: 10.1515/jpem-2019-0420.
PMID: 32304307
Myles JG,
Manoli I,
Venditti CP
Curr Opin Clin Nutr Metab Care
2018 Jan;21(1):42-48.
doi: 10.1097/MCO.0000000000000428.
PMID: 29035969Free PMC Article
Whitaker AM,
Thomas NH,
Krivitzky LS,
Ficicioglu CH
Appl Neuropsychol Child
2018 Apr-Jun;7(2):143-149.
Epub 2017 Jan 10
doi: 10.1080/21622965.2016.1270211.
PMID: 28071971
Brooks BP,
Thompson AH,
Sloan JL,
Manoli I,
Carrillo-Carrasco N,
Zein WM,
Venditti CP
Ophthalmology
2016 Mar;123(3):571-82.
Epub 2016 Jan 26
doi: 10.1016/j.ophtha.2015.10.041.
PMID: 26825575Free PMC Article
Caterino M,
Pastore A,
Strozziero MG,
Di Giovamberardino G,
Imperlini E,
Scolamiero E,
Ingenito L,
Boenzi S,
Ceravolo F,
Martinelli D,
Dionisi-Vici C,
Ruoppolo M
J Inherit Metab Dis
2015 Sep;38(5):969-79.
Epub 2015 Jan 14
doi: 10.1007/s10545-014-9806-4.
PMID: 25585586