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L-2-Hydroxyglutaric aciduria presenting with severe autistic features.
Zafeiriou DI, Ververi A, Salomons GS, Vargiami E, Haas D, Papadopoulou V, Kontopoulos E, Jakobs C. Zafeiriou DI, et al. Among authors: haas d. Brain Dev. 2008 Apr;30(4):305-7. doi: 10.1016/j.braindev.2007.09.005. Epub 2007 Nov 5. Brain Dev. 2008. PMID: 17981416
[L-2-hydroxyglutaric aciduria -- a rare cause of macrocephaly].
Hussmann O, Haas D, Neubauer BA, Kruse B, Huegens-Penzel M, Jakobs C, Hahn A. Hussmann O, et al. Among authors: haas d. Klin Padiatr. 2006 Mar-Apr;218(2):72-3. doi: 10.1055/s-2005-836848. Klin Padiatr. 2006. PMID: 16506106 German.
Ethylmalonic encephalopathy: clinical and biochemical observations.
Zafeiriou DI, Augoustides-Savvopoulou P, Haas D, Smet J, Triantafyllou P, Vargiami E, Tamiolaki M, Gombakis N, van Coster R, Sewell AC, Vianey-Saban C, Gregersen N. Zafeiriou DI, et al. Among authors: haas d. Neuropediatrics. 2007 Apr;38(2):78-82. doi: 10.1055/s-2007-984447. Neuropediatrics. 2007. PMID: 17712735
Aspartylglucosaminuria: unusual neonatal presentation in Qatari twins with a novel aspartylglucosaminidase gene mutation and 3 new cases in a Turkish family.
Opladen T, Ebinger F, Zschocke J, Sengupta D, Ben-Omran T, Shahbeck N, Moog U, Fischer C, Bürger F, Haas D, Ruef P, Harting I, Al-Rifai H, Hoffmann GF. Opladen T, et al. Among authors: haas d. J Child Neurol. 2014 Jan;29(1):36-42. doi: 10.1177/0883073812469049. Epub 2012 Dec 26. J Child Neurol. 2014. PMID: 23271757
1,301 results