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The phenotypic spectrum of PTCD3 deficiency by Baiba Lace, Eissa Faqeih, Namik Kaya, Zita Krumina, Johannes A. Mayr, Ieva Micule, Nathan Thompson Wright, Melanie T. Achleitner, Hanan AlQudairy, Sander Pajusalu, Janis Stavusis, Pawel Zayakin, Inna Inashkina

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Dihydrolipoamide dehydrogenase deficiency in five siblings with variable phenotypes, including fulminant fatal liver failure despite good engraftment of transplanted liver by Mihaela Mihaljević, Danijela Petković Ramadža, Tamara Žigman, Ivana Rako, Slobodan Galić, Toni Matić, Filip Rubić, Ivana Čulo Čagalj, Davor Mayer, Ante Gojević, Stanko Ćavar, Marijana Ćorić, Melanie T. Achleitner, Johannes A. Mayr, Ksenija Fumić, Jurica Vuković, Ivo Barić

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Bi‐allelic mutation in SEC16B alters collagen trafficking and increases ER stress by Ahmed El‐Gazzar, Barbara Voraberger, Frank Rauch, Mario Mairhofer, Katy Schmidt, Brecht Guillemyn, Goran Mitulović, Veronika Reiterer, Margot Haun, Michaela M Mayr, Johannes A Mayr, Susanne Kimeswenger, Oliver Drews, Vrinda Saraff, Nick Shaw, Nadja Fratzl‐Zelman, Sofie Symoens, Hesso Farhan, Wolfgang Högler

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