Johannes Häberle

Efficacy and safety of empagliflozin in glycogen storage disease type Ib: Data from an international questionnaire

Ketogenic Diet Treatment of Defects in the Mitochondrial Malate Aspartate Shuttle and Pyruvate Carrier

Suggested guidelines for the diagnosis and management of urea cycle disorders: First revision

Lipid nanoparticle-targeted mRNA therapy as a treatment for the inherited metabolic liver disorder arginase deficiency

The natural history of classic galactosemia: lessons from the GalNet registry

Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective?

Hyperammonaemia in classic organic acidaemias: a review of the literature and two case histories

3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: Clinical presentation and outcome in a series of 37 patients

Frequency and Pathophysiology of Acute Liver Failure in Ornithine Transcarbamylase Deficiency (OTCD)

Defective hepatic bicarbonate production due to carbonic anhydrase VA deficiency leads to early-onset life-threatening metabolic crisis

Clinical course of 63 patients with neonatal onset urea cycle disorders in the years 2001–2013

Clinical pattern, mutations and in vitro residual activity in 33 patients with severe 5, 10 methylenetetrahydrofolate reductase (MTHFR) deficiency

Clinical presentation and outcome in a series of 88 patients with the cblC defect

Cross‐sectional observational study of 208 patients with non‐classical urea cycle disorders

Suggested guidelines for the diagnosis and management of urea cycle disorders