Johannes Häberle - Dissemin

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All papers authored by Johannes Häberle

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2022 Bigna K. Bölsterli

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, Eugen Boltshauser

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, Luigi Palmieri

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, Johannes Spenger

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, Michaela Brunner-Krainz, Felix Distelmaier

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, Peter Freisinger

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, Andrea L. Gropman

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, Johannes Häberle

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, Julia Hentschel

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, Bruno Jeandidier, Daniela Karall

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, Annick Klabunde-Cherwon and 17 other authors

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

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2019 Gabriella Allegri, Sereina Deplazes, Nicole Rimann, Benjamin Causton, Tanja Scherer, Jonathan W. Leff, Carmen Diez‐Fernandez, Anna Klimovskaia, Ralph Fingerhut, Jakub Krijt, Viktor Kožich, Jean‐Marc Nuoffer, Hiu M. Grisch‐Chan

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, Beat Thöny, Johannes Häberle

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Comprehensive characterization of ureagenesis in the spf^ash mouse, a model of human ornithine transcarbamylase deficiency, reveals age‐dependency of ammonia detoxification

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2018 Carmen Diez-Fernandez, Véronique Rüfenacht, Corinne Gemperle, Ralph Fingerhut, Johannes Häberle

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Mutations and common variants in the human arginase 1 (ARG1 ) gene: Impact on patients, diagnostics, and protein structure considerations

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2016 Carmen Diez-Fernandez, Véronique Rüfenacht, Saikat Santra, Allan M. Lund

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, René Santer, Martin Lindner, Trine Tangeraas

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, Caroline Unsinn, Pascale de Lonlay, Alberto Burlina, Clara D. M. van Karnebeek, Johannes Häberle

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

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