Johannes Haberle
Zurich, ZH, Switzerland
Last Updated: 09/26/2026
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Found 172 publications
RNA-LNP-mediated in vivo prime editing corrects disease phenotypes in a mouse model of citrullinemia type I.
Journal: Science translational medicine
Published: May 13, 2026
The Role of Urea Cycle Functional Studies in Preclinical Research.
Journal: Journal of inherited metabolic disease
Published: May 04, 2026
Prevalence, Disease Onset and Clinical Outcome in Arginase 1 Deficiency: Cross-Border Surveillance in Germany, Austria, and Switzerland.
Journal: Journal of inherited metabolic disease
Published: March 11, 2026
Development of a quantitative real-time PCR-based newborn screening system for citrin deficiency using dried blood spots.
Journal: Molecular genetics and metabolism
Published: December 12, 2025
A hybrid piggyBac AAV-transposon and LNP-transposase for treating arginase deficiency: A 100-fold dose reduction compared to AAV alone.
Journal: Molecular therapy : the journal of the American Society of Gene Therapy
Published: December 07, 2025
Disease or non-disease - about the identification of metabolic conditions that require no treatment.
Disease or non-disease - about the identification of metabolic conditions that require no treatment.
Journal: Molecular genetics and metabolism
Published: November 08, 2025
The status of adult patients with citrin deficiency in Japan: A report from the nation-wide study.
Journal: Molecular genetics and metabolism
Published: July 02, 2025
The genotypic and phenotypic landscape of PDHA1-related pyruvate dehydrogenase complex deficiency.
Journal: Brain : a journal of neurology
Published: July 01, 2025
The genotypic and phenotypic landscape of PDHA1-related pyruvate dehydrogenase complex deficiency.
Journal: Brain : a journal of neurology
Published: July 01, 2025
The Current Status of Adult Patients With Urea Cycle Disorders in Japan: From the Nation-Wide Study.
The Current Status of Adult Patients With Urea Cycle Disorders in Japan: From the Nation-Wide Study.
Journal: Journal of inherited metabolic disease
Published: June 16, 2025
Nitrogen Scavengers: History, Clinical Considerations and Future Prospects.
Journal: Journal of inherited metabolic disease
Published: June 02, 2025
The current social status in adult patients with urea cycle disorders in Japan.
Journal: Molecular genetics and metabolism
Published: March 02, 2025
Last Updated: 09/26/2026