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Ethylmalonic encephalopathy-report of two cases.
Brain Dev. 2006 Jun;28(5):329-31. doi: 10.1016/j.braindev.2005.10.005. Epub 2006 Jan 10.
Brain Dev. 2006.
PMID: 16376514
An early onset form of methylenetetrahydrofolate reductase deficiency: a report of a family from Kuwait.
Al Tawari AA, Ramadan DG, Neubauer D, Heberle LC, Al Awadi F.
Al Tawari AA, et al. Among authors: heberle lc.
Brain Dev. 2002 Aug;24(5):304-9. doi: 10.1016/s0387-7604(02)00062-1.
Brain Dev. 2002.
PMID: 12142069
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The microcephaly-capillary malformation syndrome in two brothers with novel clinical features.
Pavlović M, Neubauer D, Al Tawari A, Heberle LC.
Pavlović M, et al. Among authors: heberle lc.
Pediatr Neurol. 2014 Oct;51(4):560-5. doi: 10.1016/j.pediatrneurol.2014.07.006. Epub 2014 Jul 16.
Pediatr Neurol. 2014.
PMID: 25266620
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Delineation of late onset hypoventilation associated with hypothalamic dysfunction syndrome.
De Pontual L, Trochet D, Caillat-Zucman S, Abou Shenab OA, Bougneres P, Crow Y, Cunningham S, Esteva B, Heberle LC, Leger J, Pinto G, Polak M, Shafik MH, Straus C, Trang H, Munnich A, Lyonnet S, Desguerre I, Amiel J.
De Pontual L, et al. Among authors: heberle lc.
Pediatr Res. 2008 Dec;64(6):689-94. doi: 10.1203/PDR.0b013e318187dd0e.
Pediatr Res. 2008.
PMID: 18670370
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