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Page 1
Normal cognitive functions in joubert syndrome.
Poretti A, Dietrich Alber F, Brancati F, Dallapiccola B, Valente EM, Boltshauser E. Poretti A, et al. Among authors: dietrich alber f. Neuropediatrics. 2009 Dec;40(6):287-90. doi: 10.1055/s-0030-1249630. Epub 2010 May 5. Neuropediatrics. 2009. PMID: 20446224
Impairment of cognitive function in ornithine transcarbamylase deficiency is global rather than domain-specific and is associated with disease onset, sex, maximum ammonium, and number of hyperammonemic events.
Buerger C, Garbade SF, Dietrich Alber F, Waisbren SE, McCarter R, Kölker S, Burgard P; Urea Cycle Disorders Consortium. Buerger C, et al. Among authors: dietrich alber f. J Inherit Metab Dis. 2019 Mar;42(2):243-253. doi: 10.1002/jimd.12013. Epub 2019 Jan 22. J Inherit Metab Dis. 2019. PMID: 30671983 Free PMC article.
The underlying etiology of infantile spasms (West syndrome): Information from the International Collaborative Infantile Spasms Study (ICISS).
Osborne JP, Edwards SW, Dietrich Alber F, Hancock E, Johnson AL, Kennedy CR, Likeman M, Lux AL, Mackay M, Mallick A, Newton RW, Nolan M, Pressler R, Rating D, Schmitt B, Verity CM, O'Callaghan FJK; participating investigators. Osborne JP, et al. Among authors: dietrich alber f. Epilepsia. 2019 Sep;60(9):1861-1869. doi: 10.1111/epi.16305. Epub 2019 Aug 16. Epilepsia. 2019. PMID: 31418851