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Study of the natural history of patients with rare inherited metabolic diseases, optimal treatment and complications

(also see: C1. Protocol, page 9, paragraph 2)Primary: Creating a metabolic bio-database with body material of patients with inherited metabolic diseases, combined with clinical data.Secondary: Achieve better participation in national and…

Short-term safety and efficacy of ketohexokinase inhibition in patients with hereditary fructose intolerance

To study the effects of PF-06835919 on fructose tolerance and intrahepatic lipid content in patients with HFI.

Magnetic Resonance Spectroscopy in Acid Sphingomyelinase Deficiency

To assess the ability of MRI techniques to detect early stages of lipid accumulation in the liver of ASMD patients with the chronic visceral subtype compared to values of age-, sex- and BMI-matched healthy subjects.