Hyperammonaemia in classic organic acidaemias: a review of the literature and two case histories
Author:
Funder
Orphan Europe
Publisher
Springer Science and Business Media LLC
Subject
Pharmacology (medical),Genetics (clinical),General Medicine
Link
http://link.springer.com/content/pdf/10.1186/s13023-018-0963-7.pdf
Reference69 articles.
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2. Kölker S, Burgard P, Sauer SW, Okun JG. Current concepts in organic acidurias: understanding intra- and extracerebral disease manifestation. J Inherit Metab Dis. 2013;36:635–44.
3. Baumgartner MR, Hörster F, Dionisi-Vici C, Haliloglu G, Karall D, Chapman KA, et al. Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia. Orphanet J Rare Dis. 2014;9:130.
4. Ah Mew NA, Viall S, Kirmse B, Chapman KA. Deconstructing black swans: an introductory approach to inherited metabolic disorders in the neonate. Adv Neonatal Care. 2015;15:241–7.
5. Zwickler T, Haege G, Riderer A, Hörster F, Hoffmann GF, Burgard P, et al. Metabolic decompensation in methylmalonic aciduria: which biochemical parameters are discriminative? J Inherit Metab Dis. 2012;35:797–806.
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