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Johannes Häberle

affiliation not provided to SSRN

  • affiliation not provided to SSRN

SCHOLARLY PAPERS

3

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113

TOTAL CITATIONS

0

Scholarly Papers (3)

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1.

Development of a quantitative real-time PCR-based newborn screening system for citrin deficiency using dried blood spots

Number of pages: 35 Posted: 26 Dec 2025
Jun Kido, Hiromasa Nakashima, Johannes Häberle, Fumiko Nozaki, Naomi Yano, Keishin Sugawara, Masanari Hasegawa, Yoichi Wada Yoichi Wada, Chikahiko Numakura, Masaru Shimura, Sasai Hideo, Shunsaku Kaji, Yuichi Mushimoto, Kotaro Anan Kotaro Anan and Kimitoshi Nakamura
Kumamoto University - Faculty of Life Sciences, Kumamoto University, affiliation not provided to SSRN, Kumamoto University, Kumamoto University, Kumamoto University, affiliation not provided to SSRN, Tohoku University, Saitama University - Saitama Medical University, affiliation not provided to SSRN, Gifu University, affiliation not provided to SSRN, Kyushu University, Kumamoto University and Kumamoto University
Downloads 46 (1,109,210)

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Fluorescence probe, newborn screening, quantitative real-time PCR, SLC25A13, Sanger sequencing

2.

Caregiver Burden, and Parents’ Perception of Disease Severity Determine Health-Related Quality of Life in Paediatric Patients with Intoxication-Type Inborn Errors of Metabolism

Number of pages: 24 Posted: 23 Mar 2022
Florin Bösch, Markus A. Landolt, Matthias R. Baumgartner, Susana Fernandez, Patrick Forny, Matthias Gautschi, Sarah C. Grünert, Johannes Häberle, Carolina Horvath, Daniela Karall, Danila Lampis, Marianne Rohrbach, Sabine Scholl-Bürgi, Gabor Szinnai and Martina Huemer
affiliation not provided to SSRN, affiliation not provided to SSRN, affiliation not provided to SSRN, affiliation not provided to SSRN, affiliation not provided to SSRN, affiliation not provided to SSRN, University of Freiburg, affiliation not provided to SSRN, affiliation not provided to SSRN, Medical University of Innsbruck, affiliation not provided to SSRN, ETH Zürich, Medical University of Innsbruck, affiliation not provided to SSRN and University of Zurich - Children's Research Center
Downloads 43 (1,145,425)

Abstract:

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Health-related quality of life, caregiver burden, disease severity, Inborn errors of metabolism, Organic acidurias, Urea cycle disorders, Aminoacidopathies, Phenylketonuria

3.

The Status of Adult Patients with Citrin Deficiency in Japan: A Report from the Nation-Wide Study

Number of pages: 40 Posted: 10 Jul 2025
Jun Kido, Johannes Häberle, Keishin Sugawara, Masahide Yazaki, Ayano Inui, Chikahiko Numakura, Masaru Shimura, Keinosuke Ishido, Naomi Kuranobu and Kimitoshi Nakamura
Kumamoto University - Faculty of Life Sciences, affiliation not provided to SSRN, Kumamoto University, affiliation not provided to SSRN, Saiseikai Yokohamashi Tobu Hospital, Saitama University - Saitama Medical University, affiliation not provided to SSRN, Hirosaki University, affiliation not provided to SSRN and Kumamoto University
Downloads 24 (1,399,036)

Abstract:

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Adolescent and adult citrin deficiency, end stage liver disease, hepatic encephalopathy, intellectual disability, liver transplantation