Etiology
Alessandrì MG,
Milone R,
Casalini C,
Nesti C,
Cioni G,
Battini R
Brain Dev
2018 Aug;40(7):570-575.
Epub 2018 Apr 10
doi: 10.1016/j.braindev.2018.03.009.
PMID: 29653693
Diagnosis
Alessandrì MG,
Milone R,
Casalini C,
Nesti C,
Cioni G,
Battini R
Brain Dev
2018 Aug;40(7):570-575.
Epub 2018 Apr 10
doi: 10.1016/j.braindev.2018.03.009.
PMID: 29653693
Peters V,
Bonham JR,
Hoffmann GF,
Scott C,
Langhans CD
J Inherit Metab Dis
2016 Sep;39(5):683-687.
Epub 2016 May 4
doi: 10.1007/s10545-016-9941-1.
PMID: 27146437
Sass JO,
Vaithilingam J,
Gemperle-Britschgi C,
Delnooz CC,
Kluijtmans LA,
van de Warrenburg BP,
Wevers RA
Metab Brain Dis
2016 Jun;31(3):587-92.
Epub 2015 Dec 19
doi: 10.1007/s11011-015-9778-6.
PMID: 26686503
Tylki-Szymanska A,
Gradowska W,
Sommer A,
Heer A,
Walter M,
Reinhard C,
Omran H,
Sass JO,
Jurecka A
J Inherit Metab Dis
2010 Dec;33 Suppl 3:S211-4.
Epub 2010 May 18
doi: 10.1007/s10545-010-9089-3.
PMID: 20480396
Sass JO,
Mohr V,
Olbrich H,
Engelke U,
Horvath J,
Fliegauf M,
Loges NT,
Schweitzer-Krantz S,
Moebus R,
Weiler P,
Kispert A,
Superti-Furga A,
Wevers RA,
Omran H
Am J Hum Genet
2006 Mar;78(3):401-9.
Epub 2006 Jan 18
doi: 10.1086/500563.
PMID: 16465618Free PMC Article
Prognosis
Alessandrì MG,
Milone R,
Casalini C,
Nesti C,
Cioni G,
Battini R
Brain Dev
2018 Aug;40(7):570-575.
Epub 2018 Apr 10
doi: 10.1016/j.braindev.2018.03.009.
PMID: 29653693
Tylki-Szymanska A,
Gradowska W,
Sommer A,
Heer A,
Walter M,
Reinhard C,
Omran H,
Sass JO,
Jurecka A
J Inherit Metab Dis
2010 Dec;33 Suppl 3:S211-4.
Epub 2010 May 18
doi: 10.1007/s10545-010-9089-3.
PMID: 20480396
Van Coster RN,
Gerlo EA,
Giardina TG,
Engelke UF,
Smet JE,
De Praeter CM,
Meersschaut VA,
De Meirleir LJ,
Seneca SH,
Devreese B,
Leroy JG,
Herga S,
Perrier JP,
Wevers RA,
Lissens W
Biochem Biophys Res Commun
2005 Dec 23;338(3):1322-6.
Epub 2005 Nov 2
doi: 10.1016/j.bbrc.2005.10.126.
PMID: 16274666
Clinical prediction guides
Ferri L,
Funghini S,
Fioravanti A,
Biondi EG,
la Marca G,
Guerrini R,
Donati MA,
Morrone A
Clin Genet
2014 Oct;86(4):367-72.
Epub 2013 Nov 18
doi: 10.1111/cge.12297.
PMID: 24117009
Tylki-Szymanska A,
Gradowska W,
Sommer A,
Heer A,
Walter M,
Reinhard C,
Omran H,
Sass JO,
Jurecka A
J Inherit Metab Dis
2010 Dec;33 Suppl 3:S211-4.
Epub 2010 May 18
doi: 10.1007/s10545-010-9089-3.
PMID: 20480396
Engelke UF,
Sass JO,
Van Coster RN,
Gerlo E,
Olbrich H,
Krywawych S,
Calvin J,
Hart C,
Omran H,
Wevers RA
NMR Biomed
2008 Feb;21(2):138-47.
doi: 10.1002/nbm.1170.
PMID: 17516490
Van Coster RN,
Gerlo EA,
Giardina TG,
Engelke UF,
Smet JE,
De Praeter CM,
Meersschaut VA,
De Meirleir LJ,
Seneca SH,
Devreese B,
Leroy JG,
Herga S,
Perrier JP,
Wevers RA,
Lissens W
Biochem Biophys Res Commun
2005 Dec 23;338(3):1322-6.
Epub 2005 Nov 2
doi: 10.1016/j.bbrc.2005.10.126.
PMID: 16274666