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Paediatrics I

Univ.-Prof. Thomas Müller
Univ.-Prof. Thomas Müller
Paediatrics I

Anichstraße 35
A-6020 Innsbruck

Phone: +43 512 504 26345
Fax: +43 512 504 25450

Research Branch (ÖSTAT Classification)

301114, 301301, 302078, 202012, 202016


antibody-mediated disorders, autoinflammation, cancer biology, Cell biology, diabetes, drug discovery, hemostaseology, inflammatory CNS diseases, inherited metabolic disorders, and molecular genetics of rare diseases

Research Focus

Paediatric Gastroenterology and Hepatology

Functional consequences of identified gene defects in genome-edited cell cultures and intestinal organoids derived from human biopsies. Prevalence of pediatric acute liver failure, cholestatic liver disease and define evidence in the treatment of gastrointestinal diseases.

Genetic variants underlying monogenic conditions in the field of paediatric gastroenterology and hepatology and in other paediatric fields are identified in novel and known disease genes in the molecular genetics group.

Cancer Biology and 3D Bioprinting

Role of FOXO transcription factors in normal and malignant cells and strategies to modulate them via small compounds identified through combined in silico / biochemical drug screening approaches. To test these and other compounds on living human tissue, we are developing advanced organ-on-chip models by directly bioprinting tissue equivalents into fluidic chip devices.

Paediatric Haematology-Oncology

The research focus spans from basic research in rare diseases to clinical studies to help diminish mortality, reduce morbidity in affected children and help families to better cope with demanding treatments. One recent focus is the implementation and scientific evaluation of telemedicine.

Paediatric Rheumatology

The main research focus in paediatric rheumatology is on the development of biomarkers for autoimmune diseases in infancy and adolescence.

Inherited Metabolic Diseases / Rare Diseases

The main research focus of the inherited metabolic disease group remains the biochemical characterisation of known and unknown inherited metabolic diseases, including the identification of new diseases. In addition, we have implemented methods of investigating pathophysiology and evaluating treatment in diagnosed patients.

Neuropaediatric Diseases

The main research focus is on the identification of new genetic causes of neurological diseases, including epilepsy, rare channelopathies and neuromuscular diseases. Furthermore, we focus on acquired demyelinating syndromes, especially those associated with autoantibodies, e.g. directed against myelin oligodendrocyte glycoprotein and other inflammatory CNS diseases.

Paediatric Diabetes

Establishing the broad use of the electronic Diabetes Registry DPV in Austria, coordinating research questions in epidemiology and focusing on international comparisons of diabetes registry data and clinical care for children, adolescents and young adults with diabetes.

The second main research focus is on technical diabetes treatment.

Paediatric Critical Care Medicine

Our research focuses mainly on extracorporeal therapies such as organ support in critically ill children with organ failure. Among others, current studies include the use of ECMO in hemato-oncologic patients, the use of regional citrate anticoagulation during CRRT and outcome data in patients requiring CCRT.

General Facts

The molecular genetic laboratory is led by Univ. Prof. Dr Andreas Janecke and his team. Close collaboration exists with the local Institute of Human Genetics and the Institute of Cell Biology concerning the identification of genetic variants on the genomic and transcript level and the functional characterisation in cellular systems.

The molecular biology laboratory/3D Bioprinting Lab hosts the research teams of Univ. Prof. Dr Michael J. Ausserlechner and PD. Dr. Judith Hagenbuchner (Dept. of Pediatrics II) and is equipped with live-cell imaging fluorescence microscopy, luminescence and fluorescence imaging, flow cytometry, FPLC, qPCR, a pipetting robot for drug screening and biosafety-level-2 cell culture. For 3D bioprinting and tissue engineering, the laboratory is further equipped with industry-standard 3D bioprinters, instruments for fluidic chip device manufacturing (plasma cleaner, laser engraver) and FDM/stereolithography printers for rapid prototyping.

The metabolic laboratory of the Department of Paediatrics I is headed by Priv.-Doz. Dr. Sabine Scholl-Bürgi and Ao.Univ.-Prof. Dr. Daniela Karall. As well as collaboration within the clinic (Univ. Prof. Dr. Ausserlechner and Univ.-Prof. Dr Janecke), there also is close cooperation with other research groups on the campus, especially with the Department of Human Genetics, the Breath Gas Research Group and the Biological Chemistry division. There is also international cooperation with mainly European research groups.


Paediatric Gastroenterology and Hepatology

In 2021/2022, our group contributed to the identification of the pathomechanism underlying variants in the UNC45A gene, which give rise to Microvillus inclusion disease. Furthermore, we thoroughly characterised the prevalence and natural history of TRMU deficiency, a mitochondriopathy resulting in recurrent acute liver failure in children.

Cancer Biology and 3D Bioprinting

The main research topics of Univ.Prof.Dr. Michael J. Ausserlechner are the role of FOXO transcription factors in therapy resistance, tumour angiogenesis and aging and the development of 3D bioprinted organ-on-chip models for drug validation and disease modelling. In cooperation with partners from Innsbruck, Prague, Berlin, Zuerich, Bulgaria and Canada, we investigate the molecular function of these transcriptional master regulators of cell homeostasis and identify novel drugs by a combination of in silico, biochemical and cell-based screening. 3D bioprinting/tissue engineering mainly focuses on the combination of bioprinted human tissue equivalents with fluidic chip device technology to develop perfused tissue equivalents for human skin, tumour microenvironment and human mesothelium. The major aim is to replace and reduce animal experiments and to close the evolutionary gap between experimental animals and the use of drugs in humans. Applications of these complex tissue models are being studied in human diseases and in vitro drug testing.

Inherited Metabolic Disorders / Rare Diseases

The main research interests of the group of Ao.Univ-Prof. Dr. D. Karall and Priv.Doz. Dr. S. Scholl-Bürgi lie in the inherited metabolic disorders of propionic/methylmalonic acidaemia, long-chain fatty-acid oxidation disorders and disorders of energy metabolism at clinical, epidemiological, biochemical and molecular level. In recent years, the research has focused on the identification of new disorders (e.g. CoQ4, mitochondrial fission and fusion, SPENCD, PIGQ) and the characterisation of known disorders (e.g. LCHAD deficiency, GLUT1 deficiency syndrome, PIGA, FBXL4, ALG8-CDG).

Inherited metabolic disorders are embedded in the activities of the Centre of Rare Diseases in Innsbruck (Zentrum für Seltene Krankheiten Innsbruck), which has coordinated networking between clinical and research colleagues on the campus and nationally since 2015.

Paediatric Haematology-Oncology

Our research focuses on the translation of promising findings from the laboratory to the patient’s bedside. Currently, we participate to more than 50 clinical trials for children, adolescents and young adults with cancer, including cooperative and consortia studies, industry-sponsored and investigator-initiated studies. These include Phase I, II and III trials as well as nontherapeutic studies biology studies, studies on health-related quality of life and late effects of cancer after successful treatment. Patients with the full spectrum of pediatric cancers and haematologic diseases from North Tyrol, Vorarlberg and South Tyrol are included. Leaders of our group hold key roles in the national study groups (AGPHO), the international study group of pediatric oncology in intensive care (POKER) and the international study group of life quality in pediatric cancer (EORTC).

Paediatric Rheumatology

We focus on the role of the complement system in autoinflammatory diseases and provide patient data to the following international registries: BIKER (the biological registry of the German society for paediatric and adolescent rheumatology – Gesellschaft für Kinder und Jugendrheumatologie), EUROFEVER (PRINTO registry for autoinflammatory diseases). We are also part of Pro-Kind: This initiative develops therapeutic protocols to standardise and harmonise the treatment of patients with paediatric rheumatic diseases in order to improve disease outcome. In 2019, the initiative received funding from the GBA to evaluate the use and effectiveness of the protocols. For this purpose, 500 newly diagnosed patients with childhood rheumatic diseases (polyarticular JIA, oligoarticular JIA, enthesitis-associated JIA, systemic JIA, juvenile dermatomyositis, systemic lupus erythematosus) will be enrolled in a registry study and followed prospectively for one year.

Neuropaediatric Diseases

Our research focuses on international collaborations (1) to describe rare neurological diseases (Ehlers Danlos, KCNQ2, GABRG2, GRIN2A/B mutations and ring chromosome 18) and (2) to evaluate biomarkers and epidemiological aspects in different antibody-mediated or inflammatory CNS disorders such as multiple sclerosis or MOG-antibody-associated disorders (MOGAD). Together, PD Dr. Matthias Baumann and Mag. Dr. Christian Lechner have special research interests in the above mentioned fields and strive to improve clinical care of children and adolescents with rare neurological disorders, e.g. by participating in a European expert consensus on diagnostic criteria for MOGAD.

Diabetes Registries

Assoc. Prof. PD Dr. Sabine Hofer

Since 2013, our main focus has been on the international comparison of diabetes management and outcome parameters in children and adolescents with diabetes with various European and foreign countries,.

Diabetes Treatment in Early Childhood

Assoc. Prof. PD Dr. Sabine Hofer

Closed loop studies – Horizon 2020 Grant – KidsAP, ongoing until 31.12.2021, see NEJM publication 2022

Genetic Diabetes

Univ.-Prof. Dr. Elisabeth Steichen and Assoz. PD Sabine Hofer focus on rare neonatal forms and manifestations of diabetes and hyperinsulinism.

Paediatric Critical Care Medicine

Priv.-Doz. Dr Gerard Cortina focuses on the identification of criteria that influence outcome in critically ill children who have received extracorporeal therapies such as ECMO, CRRT and TPE, both individually or in combination. Some of these retrospective analyses have been performed in collaboration with the department of critical care at the Royal Children’s Hospital in Melbourne, Australia.



Selected Publications

Pediatric Gastroenterology and Hepatology

  • Schneeberger, Pauline E.; Nampoothiri, Sheela; Holling, Tess; Yesodharan, Dhanya; Alawi, Malik; Knisely, A. S.; Mueller, Thomas; Plecko, Barbara; Janecke, Andreas R.; Kutsche, Kerstin: Biallelic variants in VPS50 cause a neurodevelopmental disorder with neonatal cholestasis. Brain. 2021; 144(S); 3036-3049. doi: 10.1093/brain/awab206
  • Janecke, Andreas R.; Liu, Xiaoqin; Adam, Ruediger; Punuru, Sumanth; Viestenz, Arne; Strauss, Valeria; Laass, Martin; Sanchez, Elizabeth; Adachi, Roberto; Schatz, Martha P.; Saboo, Ujwala S.; Mittal, Naveen; Rohrschneider, Klaus; Escher, Johanna; Ganesh, Anuradha; Al Zuhaibi, Sana; Al Murshedi, Fathiya; AlSaleem, Badr; Alfadhel, Majid; Al Sinani, Siham; Alkuraya, Fowzan S.; Huber, Lukas A.; Mueller, Thomas; Heidelberger, Ruth; Janz, Roger: Pathogenic STX3 variants affecting the retinal and intestinal transcripts cause an early-onset severe retinal dystrophy in microvillus inclusion disease subjects. Hum Genet. 2021; 140(8); 1143-1156. doi: 10.1007/s00439-021-02284-1
  • Vogel GF, Mozer-Glassberg Y, Landau YE, Schlieben LD, Prokisch H, Feichtinger RG, Mayr JA, Brennenstuhl H, Schröter J, Pechlaner A, Alkuraya FS, Baker JJ, Barcia G, Baric I, Braverman N, Burnyte B, Christodoulou J, Ciara E, Coman D, Das AM, Darin N, Della Marina A, Distelmaier F, Eklund EA, Ersoy M, Fang W, Gaignard P, Ganetzky RD, Gonzales E, Howard C, Hughes J, Konstantopoulou V, Kose M, Kerr M, Khan A, Lenz D, McFarland R, Margolis MG, Morrison K, Müller T, Murayama K, Nicastro E, Pennisi A, Peters H, Piekutowska-Abramczuk D, Rötig A, Santer R, Scaglia F, Schiff M, Shagrani M, Sharrard M, Soler-Alfonso C, Staufner C, Storey I, Stormon M, Taylor RW, Thorburn DR, Teles EL, Wang JS, Weghuber D, Wortmann S. Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants. Genet Med. 2022 Oct 28:S1098-3600(22)00953-4. doi: 10.1016/j.gim.2022.09.015. Online ahead of print.PMID: 36305855
  • Duclaux-Loras R, Lebreton C, Berthelet J, Charbit-Henrion F, Nicolle O, Revenu des Courtils C, Waich S, Valovka T, Khiat A, Rabant M, Racine C, Guerrera IC, Baptista J, Mahe MM, Hess MW, Durel B, Lefort N, Banal C, Parisot M, Talbotec C, Lacaille F, Ecochard-Dugelay E, Demir AM, Vogel GF, Faivre L, Rodrigues A, Fowler D, Janecke AR, Müller T, Huber LA, Rodrigues-Lima F, Ruemmele FM, Uhlig HH, Del Bene F, Michaux G, Cerf-Bensussan N, Parlato M. UNC45A deficiency causes microvillus inclusion disease-like phenotype by impairing myosin VB-dependent apical trafficking. J Clin Invest. 2022 May 16;132(10):e154997. doi: 10.1172/JCI154997.
  • Aldrian, Denise; Vogel, Georg F.; Frey, Teresa K.; Ayyildiz Civan, Hasret; Aksu, Aysel Unlusoy; Avitzur, Yaron; Ramos Boluda, Esther; Cakir, Murat; Demir, Arzu Meltem; Deppisch, Caroline; Duba, Hans-Christoph; Dueker, Gesche; Gerner, Patrick; Hertecant, Jozef; Hornova, Jarmila; Kathemann, Simone; Koeglmeier, Jutta; Koutroumpa, Arsinoi; Lanzersdorfer, Roland; Lev-Tzion, Raffi; Lima, Rosa; Mansour, Sahar; Meissl, Manfred; Melek, Jan; Miqdady, Mohamad; Montoya, Jorge Hernan; Posovszky, Carsten; Rachman, Yelena; Siahanidou, Tania; Tabbers, Merit; Uhlig, Holm H.; Unal, Sevim; Wirth, Stefan; Ruemmele, Frank M.; Hess, Michael W.; Huber, Lukas A.; Mueller, Thomas; Sturm, Ekkehard; Janecke, Andreas R.: Congenital Diarrhea and Cholestatic Liver Disease: Phenotypic Spectrum Associated with MYO5B Mutations. J Clin Med. 2021; 10(3); 481. doi: 10.3390/jcm10030481

Cancer Biology and 3D Bioprinting

  • Nothdurfter D, Ploner C, Coraça-Huber DC, Wilflingseder D, Müller T, Hermann M, Hagenbuchner J, Ausserlechner MJ. 3D bioprinted, vascularized neuroblastoma tumour environment in fluidic chip devices for precision medicine drug testing. Biofabrication 2022; 14(3). doi: 10.1088/1758-5090/ac5fb7
  • Hagenbuchner J., Nothdurfter N., Ausserlechner M.J. 3D-bioprinting: Novel approaches for engineering complex human tissue equivalents and drug testing, Essays in Biochemistry 2021; 65(3): 417–427,
  • Fiegl H, Hagenbuchner J, Kyvelidou C, Seeber B, Sopper S, Tsibulak I, Wieser V, Reiser E, Roessler J, Huhtinen K, Carpén O, Parson W, Sprung S, Marth C, Ausserlechner MJ, Zeimet AG*. Dubious effects of methadone as an “anticancer” drug on ovarian cancer cell-lines and patient-derived tumour-spheroids. Gynecol Oncol. 2022;165(1):129-136. doi: 10.1016/j.ygyno.2022.01.008. Epub 2022 Jan 13. PMID: 35033381.

Pediatric Hematology-oncology

  • Meryk A, Kropshofer G, Hetzer B, Riedl D, Lehmann J, Rumpold G, Haid A, Schneeberger-Carta V, Holzner B, Crazzolara R. Use of daily patient-reported outcome measurements in pediatric cancer. JAMA Netw Open. 2022 ;5(7):e2223701. doi: 10.1001/jamanetworkopen.2022.23701.
  • Hetzer B, Meryk A, Kropshofer G, Bargehr C, Jimenez-Heredia R, Boztug K, Mühlegger BE, Dworzak M, Gruber T, Crazzolara R. A R307H substitution in GATA1 that prevents Ser310 phosphorylation causes severe fetal anemia. Blood Adv. 2022;6(14):4330-4334. doi: 10.1182/bloodadvances.2021006347.
  • Meryk A, Kropshofer G, Bargehr C, Knoll M, Hetzer B, Lass-Flörl C, Crazzolara R. Which Type of Empiric Antibiotic Therapy is Appropriate? A 20-Year Retrospective Study of Bloodstream Infections in Childhood Cancer. Infect Dis Ther. 2021;10(2):789-800. doi: 10.1007/s40121-021-00427-5. Epub 2021 Mar 11.

Neuropaediatric Diseases

  • Zech M, Kumar KR, Reining S, Reunert J, Tchan M, Riley LG, Drew AP, Adam RJ, Berutti R, Biskup S, Derive N, Bakhtiari S, Jin SC, Kruer MC, Bardakjian T, Gonzalez-Alegre P, Keller Sarmiento IJ, Mencacci NE, Lubbe SJ, Kurian MA, Clot F, Méneret A, de Sainte Agathe JM, Fung VSC, Vidailhet M, Baumann M, Marquardt T, Winkelmann J, Boesch S. Biallelic AOPEP Loss-of-Function Variants Cause Progressive Dystonia with Prominent Limb Involvement. Mov Disord. 2022 Jan;37(1):137-147. doi: 1002/mds.28804
  • Morava, Eva; Schatz, Ulrich A.; Torring, Pernille M.; Abbott, Mary-Alice; Baumann, Matthias; Brasch-Andersen, Charlotte; Chevalier, Nathalie; Dunkhase-Heinl, Ulrike; Fleger, Martin; Haack, Tobias B.; Nelson, Stephen; Potelle, Sven; Radenkovic, Silvia; Bommer, Guido T.; Van Schaftingen, Emile; Veiga-da-Cunha, Maria: Impaired glucose-1,6-biphosphate production due to bi-allelic PGM2L1 mutations is associated with a neurodevelopmental disorder. Am J Hum Genet. 2021; 108(6); 1151-1160. doi: 10.1016/j.ajhg.2021.04.017
  • El Naggar, Ines; Cleaveland, Robert; Wendel, Eva-Maria; Bertolini, Annikki; Schanda, Kathrin; Karenfort, Michael; Thiels, Charlotte; Della Marina, Adela; Schimmel, Mareike; Leiz, Steffen; Lechner, Christian; Baumann, Matthias; Reindl, Markus; Wegener-Panzer, Andreas; Rostasy, Kevin; BIOMARKER-Study-Grp: MR imaging of children with transverse myelitis and acquired demyelinating syndromes. Mult Scler Relat Disord. 2022; 67(S); 104068. doi: 10.1016/j.msard.2022.104068

Pediatric Diabetes

  • Ware J, Allen JM, Boughton CK, Wilinska ME, Hartnell S, Thankamony A, de Beaufort C, Schierloh U, Fröhlich-Reiterer E, Mader JK, Kapellen TM, Rami-Merhar B, Tauschmann M, Nagl K, Hofer SE, Campbell FM, Yong J, Hood KK, Lawton J, Roze S, Sibayan J, Bocchino LE, Kollman C, Hovorka R; KidsAP Consortium. Randomized Trial of closed-loop control in very young children with type 1 diabetes. N Engl J Med. 2022;386(3):209-219. doi: 10.1056/NEJMoa2111673.
  • Cambridge Hybrid Closed-Loop System in Very Young Children With Type 1 Diabetes Reduces Caregivers’ Fear of Hypoglycemia and Improves Their Well-Being. de Beaufort C, Schierloh U, Thankamony A, Ware J, Wilinska ME, Fröhlich-Reiterer E, Kapellen TM, Rami-Merhar B, Hofer SE, Campbell FM, Yong J, Bocchino LE, Sibayan J, Lawton J, Roze S, Fritsch M, Thiele A, Allen JM, Boughton C, Mader JK, Kollman C, Hovorka R, Pit-Ten Cate IM; KidsAP Consortium; KidsAP Consortium. Cambridge Hybrid Closed-Loop System in Very Young Children With Type 1 Diabetes Reduces Caregivers’ Fear of Hypoglycemia and Improves Their Well-Being. Diabetes Care. 2022;45(12):3050-3. doi: 10.2337/dc22-0693.
  • Bratina N, Auzanneau M, Birkebaek N, de Beaufort C, Cherubini V, Craig ME, Dabelea D, Dovc K, Hofer SE, Holl RW, Jensen ET, Mul D, Nagl K, Robinson H, Schierloh U, Svensson J, Tiberi V, Veeze HJ, Warner JT, Donaghue KC; Australasian Diabetes Data Network (ADDN) Study Group, the Prospective Diabetes Follow-up Registry (DPV) initiative, Danish National Diabetes Registry (DanDiabKids), National Pediatric Diabetes Audit (NPDA), Region Marche Registry for Diabetes, Diabeter Diabetes Database, Slovenian Childhood Diabetes Registry, SEARCH for Diabetes in Youth Study. Differences in retinopathy prevalence and associated risk factors across 11 countries in three continents: A cross-sectional study of 156,090 children and adolescents with type 1 diabetes. Pediatr Diabetes. 2022;23(8):1656-1664. doi: 10.1111/pedi.13416

Pediatric Critical Care Medicine

  • Daveiro M*, Cortina G*, Jones A, et al. Continuous Kidney Replacement Therapy Practices in Peiatric Intensive Care Units Across Europe. JAMA Netw Open 2022, 5(12):e2246901. (*shared first authorship)
  • Pechlaner A, Kropshofer G, Crazzolara R, Hetzer B, Pechlaner R, Cortina G. Mortality of Hemato-Oncologic Patients Admitted to a Pediatric Intensive Care Unit: A Single-Center Experience. Front Pediatr 2022; 10:795158. doi: 10.3389/fped.2022.795158. eCollection 2022

Pediatric Rheumatology

  • Quan AS, Brunner J, Rose B, Smitka M, Hahn G, Pain CE, Häfner R, Speth F,  Gerstl l, Hedrich VM. Diagnosis and treatment of angiography positive medium to large vessel childhood primary angiitis of central nervous system (p-cPACNS): An international survey. Front Pediatr 2021; 26; 9:654537.
  • Foeldvari I, Klotsche J, Kasapcopur O, Adrovic A, et al, Brunner J, Costa-Reis P, Eleftheriou D, Harel L, Horneff G, Kaiser D, Kallinich T, Lazarevic D, Minden K, Nielsen S, Nuruzzaman F, Uziel Y, Helmus N, Torok KS. Differences sustained between diffuse and limited forms of juvenile systemic sclerosis in expanded international cohort. Arthritis Care Res (Hoboken) 2022; 74, 1575–1584. doi: 10.1002/acr.24609.
  • Garam N, Cserhalmi M, Prohaszka T, Szilagyi A, Veszeli N, Szabo E, Uzonyi B, Ilias A, Aigner C, Schmidt A, Gaggl M, Sunder-Plassmann G, Bajcs D,  Brunner J, et al. FHR-5 Serum Levels and CFHR5 Genetic Variations in Patients With Immune Complex-Mediated Membranoproliferative Glomerulonephritis and C3-Glomerulopathy. Frontiers in Immunology 2021; 12: doi: 10.3389/fimmu.2021.720183.
  • Keenan P*, Brunner J* (*equal contribution), Quan A, Smitka M, Hahn G, Pain C, Häfner R, Speth S, Gerstl L, Hedrich CM. Diagnosis and Treatment of Small Vessel Childhood Primary Angiitis of the Central Nervous System (sv- cPACNS): An International Survey. Front Pediatr 2021; 9: 756612.doi: 10.3389/fped.2021.756612.
  • van Straalen LW* , Baas L,  Giancane G, Grebenkina L , Brunner J, et al.  and for the Paediatric Rheumatology International Trials Organisation (PRINTO). Juvenile idiopathic arthritis patients with positive family history of autoimmune thyroid disease might benefit from serological screening: analysis of the international Pharmachild registry. Pediatr Rheumatol Online J. 2022;21(1):19. doi: 10.1186/s12969-023-00802-1.

Inherited Metabolic Disorders

  • Forny P, Hörster F, Ballhausen D, Chakrapani A, Chapman KA, Dionisi-Vici C, Dixon M, Grünert SC, Grunewald S, Haliloglu G, Hochuli M, Honzik T, Karall D, Martinelli D, Molema F, Sass JO, Scholl-Bürgi S, Tal G, Williams M, Huemer M, Baumgartner MR. Guidelines for the diagnosis and management of methylmalonic acidaemia and propionic acidaemia: First revision. J Inherit Metab Dis. 2021;44(3):566-592.  doi: 10.1002/jimd.12370
  • Ramoser G, Caferri F, Radlinger B, Brunner-Krainz M, Herbst S, Huemer M, Hufggard-Leitner M, Kircher S, Konstantopoulou V, Löscher W, Möslinger D, Plecko B, Sprenger J, Stuling T, Sunder-Plassmann G, Wortmann S, Scholl-Bürgi S, Karall D. 100 years of inherited metabolic disorders in Austria-A national registry of minimal birth prevalence, diagnosis, and clinical outcome of inborn errors of metabolism in Austria between 1921 and 2021. J Inherit Metab Dis. 2022;45(2):144-156. doi: 10.1002/jimd.12442. Epub 2021 Oct 17
  • Zlamy M, Zöggeler T, Bachmann M, Schirmer M, Lechner C, Michel M, Schimkowitsch A, Karall D, Scholl-Bürgi S (2022) Immunological memory and affinity maturation after vaccination in patients with propionic acidemia. Frontiers in Immunology. doi: 10.3389/fimmu.2022.774503
  • Derks B, Demirbas D, Arantes R, Banford S, Burlina A, Cabrera A, Chiesa A, Couce M, Dionisi-Vici C, Gautschi M, Grünewald S, Morava E, Möslinger D, Scholl-Bürgi S, Skouma A, Stepien K, Timson D, Berry G, Rubio-Gozalbo E (2022) Galactose epimerase deficiency: lessons from the GalNet registry. Orphanet Journal of Rare Diseases. doi: 10.1186/s13023-022-02494-4
  • Zöggeler T, Stock K, Jörg-Streller M, Spenger J, Konstantopoulou V, Hufgard-Leitner M, Scholl-Bürgi S, Karall D. Long-term experience with triheptanoin in 12 Austrian patients with long-chain fatty acid oxidation disorders. Orphanet J Rare Dis. 2021;16(1):28.  doi: 10.1186/s13023-020-01635-x.

Selection of Funding

  • Jubiläumsfonds der Österreichischen Nationalbank, grant no. 16678 (to Andreas Janecke)
  • Jubiläumsfonds der Österreichischen Nationalbank grant no. 18019 (to Georg Vogel)
  • FWF grant no. 35805-B (to Georg Vogel)
  • FWF – CBD SUB4 (to Thomas Müller)
  • Kinderkrebshilfe für Tirol und Vorarlberg (to Thomas Müller)
  • Horizon 2020 European Union Funding for Research & Innovation, project number 731560 (to Sabine Hofer)
  • Land Tirol – Amt der Tiroler Landesregierung, grant no. F.30916/15-2021 (to Roman Crazzolara)
  • FFG-Bridge1 3DvascSkinChip, grant no. 880666 (to Michael Ausserlechner)
  • Johannes u Herta Tuba Stiftung (to Michael Ausserlechner)
  • MUI-DK CONNECT PhD program SUB 6 (to Michael Ausserlechner)


  • Prof. Dr. Tomas Obsil, Biophysical Chemistry, Charles University Prague, Prague, Czech Republic
  • Dr. Susanne Benseler, Childhood Arthritis and Rheumatology Research Alliance (CARRA), Pediatric Rheumatology European Society: BRAIN WORKS; Toronto, Canada
  • Prof. James R. Goldenring, MD, PhD, Section of Surgical Sciences, Vanderbilt University School of Medicine, Nashville, USA
  • Prof. Dr. Hans Clevers, Hubrecht Institute, Utrecht, The Netherlands
  • Prof. Dr. Johannes Häberle, UCD (urea cycle disorders) guideline group, University Children´s Hospital Zürich, Switzerland
  • Prof. Dr. Ron Wevers, Dr. Dirk J. Lefeber, University Children´s Hospital Nijmegen, The Netherlands
  • Prof. Dr. Tanuja Chitnis, Department of Pediatric Neurology, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA.
  • Prof. Dr. Romana Höftberger, Division of Neuropathology and Neurochemistry, Department of Neurology, Medical University of Vienna, Vienna, Austria
  • Prof. Dr. Dirk Foell, Münster, Klinik für Pädiatrische Rheumatologie und Immunologie, Münster, Germany
  • Prof. Dr. Maria Craig, Paediatric Endocrinologist, St George Hospital and The Children’s Hospital at Westmead, Australasian Diabetes Data Network (ADDN), UNSW Medicine & Health, Discipline of Paediatrics & Child Health, St George & Sutherland Clinical Campuses, UNSW SYDNEY, Australien
  • Dr. David Maahs, Lucile Salter Packard Professor of Pediatrics and Professor by Courtesy of Epidemiology and Population Health, Stanford Medicine Children´s Health, San Francisco, USA
  • Prof. Dr. Katja Gist, Cincinnati Childrens Hospital, USA (Worldwide Exploration of Renal Replacement Outcomes Collaborative in Kidney Diseases: WE-ROCK Multicenter study)
  • Prof. Dr. Jack Rohrer, Zellphysiologie, ZHAW, Switzerland