Johannes Häberle

University of Zurich

Switzerland

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Articles (15)

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2025

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2024

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2020

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2020

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2020

Collaborators (8)

Bigna K. Bölsterli

University Children's Hospital Zurich

SWITZERLAND

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Holger Prokisch

University Medical Center

GERMANY

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Edmund Kunji

Professor of Biophysics

University of Cambridge

UNITED KINGDOM

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Nicola Longo

Professor and Chief

University of Utah School of Medicine

UNITED STATES

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Johannes A. Mayr

AUSTRIA

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Shirou Matsumoto

Associate Professor

Kumamoto University

JAPAN

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Andrea Gropman

Chief, Neurogenetics and Neurodevelopmental Disabilities

UNITED STATES

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Georgios Makris

University of Zurich

SWITZERLAND

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Johannes Häberle

Research Interests

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Articles (15)

Deciphering the Mutational Background in Citrin Deficiency Through a Nationwide Study in Japan and Literature Review

Mapping challenges in the accessibility of treatment products for urea cycle disorders: A survey of European healthcare professionals

Expression and function of the urea cycle in widely‐used hepatic cellular models

Citrin deficiency—The East‐side story

News from Valencia: JIMD themed issue on ureagenesis defects and allied disorders

Quo vadis ureagenesis disorders? A journey from 90 years ago into the future

The therapeutic landscape of citrin deficiency

Use of pure recombinant human enzymes to assess the disease‐causing potential of missense mutations in urea cycle disorders, applied to N‐acetylglutamate synthase deficiency

Clinical Characteristics of Pediatric Patients with Urea Cycle Disorders

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

Noncoding sequence variants define a novel regulatory element in the first intron of the N ‐acetylglutamate synthase gene

Preserved Blood Spots Aid Antenatal Diagnosis of Citrullinemia Type-1

Improvement of diagnostic yield in carbamoylphosphate synthetase 1 (CPS1) molecular genetic investigation by RNA sequencing

Response to Baertling et al.

Adult onset type II citrullinemia--a great masquerader.

Collaborators (8)

Bigna K. Bölsterli

Holger Prokisch

Edmund Kunji

Nicola Longo

Johannes A. Mayr

Shirou Matsumoto

Andrea Gropman

Georgios Makris

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