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Publications by Johannes Häberle

Enhancement of Hepatic Autophagy Increases Ureagenesis and Protects Against Hyperammonemia

Proceedings of the National Academy of Sciences of the United States of America
Multidisciplinary
2017English

Cover Image, Volume 39, Issue 8

Human Mutation
Genetics
2018English

Postprandial Changes of Amino Acid and Acylcarnitine Concentrations in Dried Blood Samples

Journal of Inherited Metabolic Disease
Genetics
2010English

Argininosuccinic Aciduria: Recent Pathophysiological Insights and Therapeutic Prospects

Journal of Inherited Metabolic Disease
Genetics
2019English

Urea Cycle Disorders in Argentine Patients: Clinical Presentation, Biochemical and Genetic Findings

Orphanet Journal of Rare Diseases
MedicineGeneticsPharmacology
2019English

Networking Across Borders for Individuals With Organic Acidurias and Urea Cycle Disorders: The E-Imd Consortium

JIMD Reports
Internal MedicineGeneticsMolecular BiologyBiochemistryEndocrinologyMetabolismDiabetes
2015English

Sitosterolemia—10 Years Observation in Two Sisters

JIMD Reports
Internal MedicineGeneticsMolecular BiologyBiochemistryEndocrinologyMetabolismDiabetes
2019English

Brain Biomarkers of Long-Term Outcome of Neonatal Onset Urea Cycle Disorder

2016English

TC II Deficiency: Avoidance of False-Negative Molecular Genetics by RNA-based Investigations

Journal of Human Genetics
Genetics
2009English

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