Etiology
Yoshida S,
Kido J,
Sawada T,
Momosaki K,
Sugawara K,
Matsumoto S,
Endo F,
Nakamura K
Orphanet J Rare Dis
2020 Aug 26;15(1):220.
doi: 10.1186/s13023-020-01494-6.
PMID: 32843101Free PMC Article
Barman HA,
Özcan S,
Atıcı A,
Özgökçe C,
Öztürk A,
Kafalı AE,
Çakar NE,
Tavşanlı ME,
Küçük M,
Şahin I,
Okuyan E
Anatol J Cardiol
2020 Jan;23(2):79-85.
doi: 10.14744/AnatolJCardiol.2019.84782.
PMID: 32011328Free PMC Article
Olivieri LJ,
Kellman P,
McCarter RJ,
Cross RR,
Hansen MS,
Spurney CF
J Cardiovasc Magn Reson
2016 Oct 28;18(1):72.
doi: 10.1186/s12968-016-0292-8.
PMID: 27788681Free PMC Article
de Winter CF,
van Dijk F,
Stolker JJ,
Hennekam RC
J Intellect Disabil Res
2009 Apr;53(4):319-28.
Epub 2009 Feb 2
doi: 10.1111/j.1365-2788.2009.01156.x.
PMID: 19187102
Winter PC,
Butler EE
Ulster Med J
1993 Apr;62(1):21-8.
PMID: 8100097Free PMC Article
Diagnosis
Germain DP
Orphanet J Rare Dis
2010 Nov 22;5:30.
doi: 10.1186/1750-1172-5-30.
PMID: 21092187Free PMC Article
Sodi A,
Bini A,
Mignani R,
Minuti B,
Menchini U
Int Ophthalmol
2009 Oct;29(5):435-7.
Epub 2008 Sep 11
doi: 10.1007/s10792-008-9252-0.
PMID: 18784903
Frank JE
Am Fam Physician
2005 Oct 1;72(7):1277-82.
PMID: 16225031
Mehndiratta MM,
Rao KB,
Garg S,
Pandey S
J Assoc Physicians India
2005 Jun;53:562-3.
PMID: 16121813
Nassogne MC,
Sharrard M,
Hertz-Pannier L,
Armengaud D,
Touati G,
Delonlay-Debeney P,
Zerah M,
Brunelle F,
Saudubray JM
Childs Nerv Syst
2002 Dec;18(12):729-31.
Epub 2002 Jul 27
doi: 10.1007/s00381-002-0630-z.
PMID: 12483361
Therapy
Umer M,
Motwani M,
Jefferies JL,
Nagueh SF,
Kalra DK
Curr Probl Cardiol
2023 Jan;48(1):101439.
Epub 2022 Oct 4
doi: 10.1016/j.cpcardiol.2022.101439.
PMID: 36202174
Dinu IR,
Firu ŞG
Rom J Morphol Embryol
2021 Jan-Mar;62(1):5-11.
doi: 10.47162/RJME.62.1.01.
PMID: 34609404Free PMC Article
Germain DP
Orphanet J Rare Dis
2010 Nov 22;5:30.
doi: 10.1186/1750-1172-5-30.
PMID: 21092187Free PMC Article
Germain DP
Expert Opin Investig Drugs
2002 Oct;11(10):1467-76.
doi: 10.1517/13543784.11.10.1467.
PMID: 12387706
Cavazzana-Calvo M,
Hacein-Bey S,
de Saint Basile G,
Gross F,
Yvon E,
Nusbaum P,
Selz F,
Hue C,
Certain S,
Casanova JL,
Bousso P,
Deist FL,
Fischer A
Science
2000 Apr 28;288(5466):669-72.
doi: 10.1126/science.288.5466.669.
PMID: 10784449
Prognosis
Dowling P,
Murphy S,
Zweyer M,
Raucamp M,
Swandulla D,
Ohlendieck K
Expert Rev Mol Diagn
2019 Aug;19(8):739-755.
Epub 2019 Aug 2
doi: 10.1080/14737159.2019.1648214.
PMID: 31359811
Chiarelli LR,
Morera SM,
Bianchi P,
Fermo E,
Zanella A,
Galizzi A,
Valentini G
PLoS One
2012;7(2):e32065.
Epub 2012 Feb 14
doi: 10.1371/journal.pone.0032065.
PMID: 22348148Free PMC Article
Frantz MC,
Pontz BF,
Arnold W
ORL J Otorhinolaryngol Relat Spec
2008;70(3):210-3.
Epub 2008 Apr 8
doi: 10.1159/000124297.
PMID: 18401198
Nassogne MC,
Sharrard M,
Hertz-Pannier L,
Armengaud D,
Touati G,
Delonlay-Debeney P,
Zerah M,
Brunelle F,
Saudubray JM
Childs Nerv Syst
2002 Dec;18(12):729-31.
Epub 2002 Jul 27
doi: 10.1007/s00381-002-0630-z.
PMID: 12483361
Sawaya RA,
Mourad FH,
Najjar S,
Mikati M,
Raymond GV
Eur Neurol
1999;42(3):169-72.
doi: 10.1159/000008093.
PMID: 10529544
Clinical prediction guides
Bayram E,
Topcu Y,
Akinci G,
Hiz S,
Cakmakci H
Ann Saudi Med
2013 Jan-Feb;33(1):73-5.
doi: 10.5144/0256-4947.2012.01.7.1545.
PMID: 22750766Free PMC Article
Chiarelli LR,
Morera SM,
Bianchi P,
Fermo E,
Zanella A,
Galizzi A,
Valentini G
PLoS One
2012;7(2):e32065.
Epub 2012 Feb 14
doi: 10.1371/journal.pone.0032065.
PMID: 22348148Free PMC Article
Friso A,
Tomanin R,
Alba S,
Gasparotto N,
Puicher EP,
Fusco M,
Hortelano G,
Muenzer J,
Marin O,
Zacchello F,
Scarpa M
J Gene Med
2005 Nov;7(11):1482-91.
doi: 10.1002/jgm.790.
PMID: 15966019
Germain DP
Expert Opin Investig Drugs
2002 Oct;11(10):1467-76.
doi: 10.1517/13543784.11.10.1467.
PMID: 12387706
Coude FX,
Ogier H,
Charpentier C,
Thomassin G,
Checoury A,
Amedee-Manesme O,
Saudubray JM,
Frezal J
Hum Genet
1981;59(3):263-5.
doi: 10.1007/BF00283677.
PMID: 7199025