Etiology
Leyne E,
Anselem O,
Jordan P,
Vivanti AJ,
Benachi A,
Salomon L,
Jacquier M,
Jouannic JM,
Dhombres F,
Cambier T,
Rosenblatt J,
Pannier E,
Goffinet F,
Tsatsaris V,
Athiel Y
Acta Obstet Gynecol Scand
2024 Jan;103(1):51-58.
Epub 2023 Nov 9
doi: 10.1111/aogs.14716.
PMID: 37942915Free PMC Article
Kuseyri Hübschmann O,
Juliá-Palacios NA,
Olivella M,
Guder P,
Zafeiriou DI,
Horvath G,
Kulhánek J,
Pearson TS,
Kuster A,
Cortès-Saladelafont E,
Ibáñez S,
García-Jiménez MC,
Honzík T,
Santer R,
Jeltsch K,
Garbade SF,
Hoffmann GF,
Opladen T,
García-Cazorla Á
Ann Neurol
2022 Aug;92(2):292-303.
Epub 2022 Jun 16
doi: 10.1002/ana.26423.
PMID: 35616651
Baysal-Kirac L,
Tuzun E,
Altindag E,
Ekizoglu E,
Kinay D,
Bilgic B,
Tekturk P,
Baykan B
Clin EEG Neurosci
2016 Jul;47(3):224-34.
Epub 2015 Aug 2
doi: 10.1177/1550059415595907.
PMID: 26240088
Carvajal-González A,
Leite MI,
Waters P,
Woodhall M,
Coutinho E,
Balint B,
Lang B,
Pettingill P,
Carr A,
Sheerin UM,
Press R,
Press R,
Lunn MP,
Lim M,
Maddison P,
Meinck HM,
Vandenberghe W,
Vincent A
Brain
2014 Aug;137(Pt 8):2178-92.
Epub 2014 Jun 20
doi: 10.1093/brain/awu142.
PMID: 24951641Free PMC Article
Kikuchi G,
Motokawa Y,
Yoshida T,
Hiraga K
Proc Jpn Acad Ser B Phys Biol Sci
2008;84(7):246-63.
doi: 10.2183/pjab.84.246.
PMID: 18941301Free PMC Article
Diagnosis
Leyne E,
Anselem O,
Jordan P,
Vivanti AJ,
Benachi A,
Salomon L,
Jacquier M,
Jouannic JM,
Dhombres F,
Cambier T,
Rosenblatt J,
Pannier E,
Goffinet F,
Tsatsaris V,
Athiel Y
Acta Obstet Gynecol Scand
2024 Jan;103(1):51-58.
Epub 2023 Nov 9
doi: 10.1111/aogs.14716.
PMID: 37942915Free PMC Article
Kuseyri Hübschmann O,
Juliá-Palacios NA,
Olivella M,
Guder P,
Zafeiriou DI,
Horvath G,
Kulhánek J,
Pearson TS,
Kuster A,
Cortès-Saladelafont E,
Ibáñez S,
García-Jiménez MC,
Honzík T,
Santer R,
Jeltsch K,
Garbade SF,
Hoffmann GF,
Opladen T,
García-Cazorla Á
Ann Neurol
2022 Aug;92(2):292-303.
Epub 2022 Jun 16
doi: 10.1002/ana.26423.
PMID: 35616651
Swanson MA,
Coughlin CR Jr,
Scharer GH,
Szerlong HJ,
Bjoraker KJ,
Spector EB,
Creadon-Swindell G,
Mahieu V,
Matthijs G,
Hennermann JB,
Applegarth DA,
Toone JR,
Tong S,
Williams K,
Van Hove JL
Ann Neurol
2015 Oct;78(4):606-18.
Epub 2015 Aug 10
doi: 10.1002/ana.24485.
PMID: 26179960Free PMC Article
Kure S
Brain Dev
2011 Oct;33(9):753-7.
Epub 2011 Apr 5
doi: 10.1016/j.braindev.2011.03.001.
PMID: 21470805
Biasioli S,
D'Andrea G,
Feriani M,
Chiaramonte S,
Fabris A,
Ronco C,
La Greca G
Clin Nephrol
1986 Feb;25(2):57-63.
PMID: 3516476
Therapy
Shelkowitz E,
Saneto RP,
Al-Hertani W,
Lubout CMA,
Stence NV,
Brown MS,
Long P,
Walleigh D,
Nelson JA,
Perez FE,
Shaw DWW,
Michl EJ,
Van Hove JLK
Orphanet J Rare Dis
2022 Dec 5;17(1):423.
doi: 10.1186/s13023-022-02581-6.
PMID: 36471344Free PMC Article
Gupta J,
Badal S,
Anand V,
Jauhari P,
Chakrabarty B,
Gulati S
Neurol India
2022 Jan-Feb;70(1):312-314.
doi: 10.4103/0028-3886.338670.
PMID: 35263902
Zieve L
J Am Coll Nutr
1986;5(2):167-76.
doi: 10.1080/07315724.1986.10720123.
PMID: 3088083
Langan TJ,
Pueschel SM
Curr Probl Pediatr
1983 Jan;13(3):1-30.
doi: 10.1016/0045-9380(83)90016-6.
PMID: 6301756
Mendelson IS
J Ment Defic Res
1982 Jun;26 (Pt 2):107-10.
doi: 10.1111/j.1365-2788.1982.tb00134.x.
PMID: 6809951
Prognosis
Kuseyri Hübschmann O,
Juliá-Palacios NA,
Olivella M,
Guder P,
Zafeiriou DI,
Horvath G,
Kulhánek J,
Pearson TS,
Kuster A,
Cortès-Saladelafont E,
Ibáñez S,
García-Jiménez MC,
Honzík T,
Santer R,
Jeltsch K,
Garbade SF,
Hoffmann GF,
Opladen T,
García-Cazorla Á
Ann Neurol
2022 Aug;92(2):292-303.
Epub 2022 Jun 16
doi: 10.1002/ana.26423.
PMID: 35616651
Gupta J,
Badal S,
Anand V,
Jauhari P,
Chakrabarty B,
Gulati S
Neurol India
2022 Jan-Feb;70(1):312-314.
doi: 10.4103/0028-3886.338670.
PMID: 35263902
Mademont-Soler I,
Casellas-Vidal D,
Trujillo A,
Espuña-Capote N,
Maroto A,
García-González MDM,
Ruiz MD,
Diego-Álvarez D,
Queralt X,
Perapoch J,
Obón M
Am J Med Genet A
2021 Feb;185(2):476-485.
Epub 2020 Dec 2
doi: 10.1002/ajmg.a.61996.
PMID: 33269555
Swanson MA,
Coughlin CR Jr,
Scharer GH,
Szerlong HJ,
Bjoraker KJ,
Spector EB,
Creadon-Swindell G,
Mahieu V,
Matthijs G,
Hennermann JB,
Applegarth DA,
Toone JR,
Tong S,
Williams K,
Van Hove JL
Ann Neurol
2015 Oct;78(4):606-18.
Epub 2015 Aug 10
doi: 10.1002/ana.24485.
PMID: 26179960Free PMC Article
Carvajal-González A,
Leite MI,
Waters P,
Woodhall M,
Coutinho E,
Balint B,
Lang B,
Pettingill P,
Carr A,
Sheerin UM,
Press R,
Press R,
Lunn MP,
Lim M,
Maddison P,
Meinck HM,
Vandenberghe W,
Vincent A
Brain
2014 Aug;137(Pt 8):2178-92.
Epub 2014 Jun 20
doi: 10.1093/brain/awu142.
PMID: 24951641Free PMC Article
Clinical prediction guides
Leyne E,
Anselem O,
Jordan P,
Vivanti AJ,
Benachi A,
Salomon L,
Jacquier M,
Jouannic JM,
Dhombres F,
Cambier T,
Rosenblatt J,
Pannier E,
Goffinet F,
Tsatsaris V,
Athiel Y
Acta Obstet Gynecol Scand
2024 Jan;103(1):51-58.
Epub 2023 Nov 9
doi: 10.1111/aogs.14716.
PMID: 37942915Free PMC Article
Shelkowitz E,
Saneto RP,
Al-Hertani W,
Lubout CMA,
Stence NV,
Brown MS,
Long P,
Walleigh D,
Nelson JA,
Perez FE,
Shaw DWW,
Michl EJ,
Van Hove JLK
Orphanet J Rare Dis
2022 Dec 5;17(1):423.
doi: 10.1186/s13023-022-02581-6.
PMID: 36471344Free PMC Article
Kuseyri Hübschmann O,
Juliá-Palacios NA,
Olivella M,
Guder P,
Zafeiriou DI,
Horvath G,
Kulhánek J,
Pearson TS,
Kuster A,
Cortès-Saladelafont E,
Ibáñez S,
García-Jiménez MC,
Honzík T,
Santer R,
Jeltsch K,
Garbade SF,
Hoffmann GF,
Opladen T,
García-Cazorla Á
Ann Neurol
2022 Aug;92(2):292-303.
Epub 2022 Jun 16
doi: 10.1002/ana.26423.
PMID: 35616651
Swanson MA,
Coughlin CR Jr,
Scharer GH,
Szerlong HJ,
Bjoraker KJ,
Spector EB,
Creadon-Swindell G,
Mahieu V,
Matthijs G,
Hennermann JB,
Applegarth DA,
Toone JR,
Tong S,
Williams K,
Van Hove JL
Ann Neurol
2015 Oct;78(4):606-18.
Epub 2015 Aug 10
doi: 10.1002/ana.24485.
PMID: 26179960Free PMC Article
Hennermann JB,
Berger JM,
Grieben U,
Scharer G,
Van Hove JL
J Inherit Metab Dis
2012 Mar;35(2):253-61.
Epub 2011 Oct 15
doi: 10.1007/s10545-011-9398-1.
PMID: 22002442