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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: salomons gs. 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: pattern of MR imaging abnormalities in 56 patients.
Steenweg ME, Salomons GS, Yapici Z, Uziel G, Scalais E, Zafeiriou DI, Ruiz-Falco ML, Mejaski-Bosnjak V, Augoustides-Savvopoulou P, Wajner M, Walter J, Verhoeven-Duif NM, Struys EA, Jakobs C, van der Knaap MS. Steenweg ME, et al. Among authors: salomons gs. Radiology. 2009 Jun;251(3):856-65. doi: 10.1148/radiol.2513080647. Radiology. 2009. PMID: 19474378
Sudden unexpected death in an infant with L-2-hydroxyglutaric aciduria.
Jequier Gygax M, Roulet-Perez E, Meagher-Villemure K, Jakobs C, Salomons GS, Boulat O, Superti-Furga A, Ballhausen D, Bonafé L. Jequier Gygax M, et al. Among authors: salomons gs. Eur J Pediatr. 2009 Aug;168(8):957-62. doi: 10.1007/s00431-008-0869-9. Epub 2008 Nov 13. Eur J Pediatr. 2009. PMID: 19005678 Review.
A novel mutation as a cause of L-2-hydroxyglutaric aciduria.
O'Connor G, King M, Salomons G, Jakobs C, Hardiman O. O'Connor G, et al. J Neurol. 2009 Apr;256(4):672-3. doi: 10.1007/s00415-009-0107-z. Epub 2009 Apr 27. J Neurol. 2009. PMID: 19444541 No abstract available.
264 results