Affiliation: University of Heidelberg
Horster F, Garbade S, Zwickler T, Aydin H, Bodamer O, Burlina A, et al
. Prediction of outcome in isolated methylmalonic acidurias: combined use of clinical and biochemical parameters. J Inherit Metab Dis. 2009;32:630 pubmed publisher
..The prognosis is still unfavourable in patients with neonatal metabolic crises and non-responsiveness to cobalamin, in particular mut(0) patients. ..
Hörster F, Kölker S, Loeber J, Cornel M, Hoffmann G, Burgard P. Newborn Screening Programmes in Europe, Arguments and Efforts Regarding Harmonisation: Focus on Organic Acidurias. JIMD Rep. 2017;32:105-115 pubmed publisher
..NBS for organic acidurias in Europe is variable and less often established than for amino acid disorders. While for GA-I its benefit has already been demonstrated, there is room for debate of NBS for IVA and especially PA and MMACBL. ..
Hörster F, Baumgartner M, Viardot C, Suormala T, Burgard P, Fowler B, et al
. Long-term outcome in methylmalonic acidurias is influenced by the underlying defect (mut0, mut-, cblA, cblB). Pediatr Res. 2007;62:225-30 pubmed
..In addition, long-term outcome was dependent on the age cohort and cobalamin responsiveness. ..