Glutarazidurie Typ I
Author:
Publisher
Elsevier
Reference9 articles.
1. Biasucci G et al. Early neonatal glutaric aciduria type I hidden by perinatal asphyxia: a case report. Ital J Pediatr 2018; 44 (1): 8.
2. Thomas A et al. Favourable outcome in a child with symptomatic diagnosis of glutaric aciduria type 1 despite vertical HIV infection and minor head trauma. Metab Brain Dis 2018; 33 (2): 537–544.
3. Boy N et al. Extrastriatal changes in patients with late-onset glutaric aciduria type I highlight the risk of long-term neurotoxicity. Orphanet J Rare Dis 2017; 12 (1): 77.
4. Boy N et al. Proposed recommendations for diagnosing and managing individuals with glutaric aciduria type I: second revision. J Inherit Metab Dis 2017; 40 (1): 75–101.
5. Harting I et al. 1H-MRS in glutaric aciduria type 1: impact of biochemical phenotype and age on the cerebral accumulation of neurotoxic metabolites. J Inherit Metab Dis 2015; 38 (5): 829–838.
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