Etiology
Coşkun T,
Aydin HI,
Kiliç M,
Dursun A,
Haliloğlu G,
Topaloğlu H,
Karli-Oğuz K,
de Koning TJ
Turk J Pediatr
2009 Nov-Dec;51(6):587-92.
PMID: 20196394
Tohyama J,
Akasaka N,
Osaka H,
Maegaki Y,
Kato M,
Saito N,
Yamashita S,
Ohno K
Brain Dev
2008 May;30(5):349-55.
Epub 2007 Dec 11
doi: 10.1016/j.braindev.2007.10.006.
PMID: 18065176
de Koning TJ,
Poll-The BT,
Jaeken J
Neuropediatrics
1999 Feb;30(1):1-4.
doi: 10.1055/s-2007-973447.
PMID: 10222452
Diagnosis
Kraoua I,
Wiame E,
Kraoua L,
Nasrallah F,
Benrhouma H,
Rouissi A,
Turki I,
Chaabouni H,
Briand G,
Kaabachi N,
Van Schaftingen E,
Gouider-Khouja N
Neuropediatrics
2013 Oct;44(5):281-5.
Epub 2013 Apr 6
doi: 10.1055/s-0033-1338133.
PMID: 23564319
Tabatabaie L,
Klomp LW,
Rubio-Gozalbo ME,
Spaapen LJ,
Haagen AA,
Dorland L,
de Koning TJ
J Inherit Metab Dis
2011 Feb;34(1):181-4.
Epub 2010 Nov 27
doi: 10.1007/s10545-010-9249-5.
PMID: 21113737Free PMC Article
Coşkun T,
Aydin HI,
Kiliç M,
Dursun A,
Haliloğlu G,
Topaloğlu H,
Karli-Oğuz K,
de Koning TJ
Turk J Pediatr
2009 Nov-Dec;51(6):587-92.
PMID: 20196394
Ramaekers VT,
Blau N
Dev Med Child Neurol
2004 Dec;46(12):843-51.
doi: 10.1017/s0012162204001471.
PMID: 15581159
de Koning TJ,
Poll-The BT,
Jaeken J
Neuropediatrics
1999 Feb;30(1):1-4.
doi: 10.1055/s-2007-973447.
PMID: 10222452
Therapy
Coşkun T,
Aydin HI,
Kiliç M,
Dursun A,
Haliloğlu G,
Topaloğlu H,
Karli-Oğuz K,
de Koning TJ
Turk J Pediatr
2009 Nov-Dec;51(6):587-92.
PMID: 20196394
de Koning TJ
J Inherit Metab Dis
2006 Apr-Jun;29(2-3):347-51.
doi: 10.1007/s10545-006-0269-0.
PMID: 16763900
De Koning TJ,
Duran M,
Van Maldergem L,
Pineda M,
Dorland L,
Gooskens R,
Jaeken J,
Poll-The BT
J Inherit Metab Dis
2002 May;25(2):119-25.
doi: 10.1023/a:1015624726822.
PMID: 12118526
Pineda M,
Vilaseca MA,
Artuch R,
Santos S,
García González MM,
Aracil A,
Van Schaftingen E,
Jaeken J
Dev Med Child Neurol
2000 Sep;42(9):629-33.
doi: 10.1017/s0012162200001171.
PMID: 11034457
de Koning TJ,
Poll-The BT,
Jaeken J
Neuropediatrics
1999 Feb;30(1):1-4.
doi: 10.1055/s-2007-973447.
PMID: 10222452
Prognosis
Coşkun T,
Aydin HI,
Kiliç M,
Dursun A,
Haliloğlu G,
Topaloğlu H,
Karli-Oğuz K,
de Koning TJ
Turk J Pediatr
2009 Nov-Dec;51(6):587-92.
PMID: 20196394
Klomp LW,
de Koning TJ,
Malingré HE,
van Beurden EA,
Brink M,
Opdam FL,
Duran M,
Jaeken J,
Pineda M,
Van Maldergem L,
Poll-The BT,
van den Berg IE,
Berger R
Am J Hum Genet
2000 Dec;67(6):1389-99.
Epub 2000 Oct 27
doi: 10.1086/316886.
PMID: 11055895Free PMC Article
Clinical prediction guides
Tabatabaie L,
Klomp LW,
Rubio-Gozalbo ME,
Spaapen LJ,
Haagen AA,
Dorland L,
de Koning TJ
J Inherit Metab Dis
2011 Feb;34(1):181-4.
Epub 2010 Nov 27
doi: 10.1007/s10545-010-9249-5.
PMID: 21113737Free PMC Article
Fuchs SA,
Dorland L,
de Sain-van der Velden MG,
Hendriks M,
Klomp LW,
Berger R,
de Koning TJ
Ann Neurol
2006 Oct;60(4):476-80.
doi: 10.1002/ana.20977.
PMID: 17068790
Ramaekers VT,
Blau N
Dev Med Child Neurol
2004 Dec;46(12):843-51.
doi: 10.1017/s0012162204001471.
PMID: 15581159
De Koning TJ,
Duran M,
Van Maldergem L,
Pineda M,
Dorland L,
Gooskens R,
Jaeken J,
Poll-The BT
J Inherit Metab Dis
2002 May;25(2):119-25.
doi: 10.1023/a:1015624726822.
PMID: 12118526
Klomp LW,
de Koning TJ,
Malingré HE,
van Beurden EA,
Brink M,
Opdam FL,
Duran M,
Jaeken J,
Pineda M,
Van Maldergem L,
Poll-The BT,
van den Berg IE,
Berger R
Am J Hum Genet
2000 Dec;67(6):1389-99.
Epub 2000 Oct 27
doi: 10.1086/316886.
PMID: 11055895Free PMC Article