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E-IMD Publications

Heringer J, Valayannopoulos V, Lund AM, et al (2016)

Impact of age at onset and newborn screening on outcome in organic acidurias. J Inherit Metab Dis 39: 341-353.

 

Jamiolkowski D, Kolker S, Glahn EM, et al (2016)

Behavioural and emotional problems, intellectual impairment and health-related quality of life in patients with organic acidurias and urea cycle disorders. J Inherit Metab Dis 39: 231-241.

 

Kölker S, Dobbelaere D, Haberle J, et al (2015)

Networking Across Borders for Individuals with Organic Acidurias and Urea Cycle Disorders: The E-IMD Consortium. JIMD Rep 22: 29-38.

 

Kölker S, Garcia-Cazorla A, Valayannopoulos V, et al (2015)

The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation. J Inherit Metab Dis 38: 1041-1057.

 

Kölker S, Valayannopoulos V, Burlina AB, et al (2015)

The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype. J Inherit Metab Dis 38: 1059-1074.

 

Posset R, Garcia-Cazorla A, Valayannopoulos V, et al (2016)

Age at disease onset and peak ammonium level rather than interventional variables predict the neurological outcome in urea cycle disorders. J Inherit Metab Dis 39: 661-672.

 

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