Institute of Hereditary Metabolic Diseases
Publications

Using Hologram-Based Augmented Reality in Anatomy Learning

Lukas Zingg, Melanie Hausler, Jonas Hein, Sascha Jecklin, Soren Kottner, Dominic Gascho, Nicola Cavalcanti, Phillippe Voinov, Tobias Gotschi, Fabio Carrillo, Florian Lagler, Philipp Furnstahl, Mazda Farshad , MEDICAL-EDUCATION; DISSECTION; Mixed-reality; Sciences; Neuroanatomy;

Safety of anesthesia in mucopolysaccharidoses - A comparative retrospective cohort study on more than 600 cases

Simon Moser, Paul Harmatz, William Rhoads, Richard Rowe, Florian B. Lagler , ANESTHESIA; Mucopolysaccharidosis; Fiberoptic bronchoscope; Intubation; Laryngeal mask airway; Lysosomal storage disease;

"Real world" medical care of patients with Fabry disease by primary care physicians, internists or general practitioners

Oliver Mayer, Harald Kaemmerer, Peter Ewert, Annika Freiberger, Florian B. Lagler, Claudia Regenbogen, Teresa Trenkwalder, Fabian von Scheidt, Christine Kurschat, Sebastian Freilinger , VALUES; EQ-5D-5L;

Parental perception of treatment options for mucopolysaccharidosis

Anna-Maria Wiesinger, Florian B. Lagler , ATTITUDES; Individual treatment trials; Mucopolysaccharidosis; Personalized medicine; Discrete choice experiment; Mps; Parental perception;

Development of a novel tool for individual treatment trials in mucopolysaccharidosis

Anna-Maria Wiesinger, Brian Bigger, Roberto Giugliani, Christina Lampe, Maurizio Scarpa, Tobias Moser, Christoph Kampmann, Georg Zimmermann, Florian B. Lagler , immunomodulation; Decision analysis framework; Individual treatment trials; Mucopolysaccharidosis; Personalized medicine; Repurposing; Risk-benefit assessment;

Living with Pompe disease

Moritz Ilan Truninger, Helene Werner, Markus Andreas Landolt, Andreas Hahn, Julia B. Hennermann, Florian B. Lagler, Dorothea Moeslinger, Charlotte Pfrimmer, Marianne Rohrbach, Martina Huemer , MUSCLE WEAKNESS; CONTENT VALIDITY; Concept elicitation interviews; Content analysis; Functioning, disability, and health; Health-related quality of life; Inborn errors of metabolism; Lysosomal storage diseases; Pediatric patients; Qualitative analysis;

Monitoring and integrated care coordination of patients with alpha-mannosidosis

Nathalie Guffon, Barbara K. Burton, Can Ficicioglu, Martin Magner, Mercedes Gil-Campos, Monica A. Lopez-Rodriguez, Parul Jayakar, Allan M. Lund, Galit Tal, Jose Elias Garcia-Ortiz, Karolina M. Stepien, Carolyn Ellaway, Walla Al-Hertani, Roberto Giugliani, Sara S. Cathey, Julia B. Hennermann, Christina Lampe, Markey McNutt, Florian B. Lagler, Maurizio Scarpa, V. Reid Sutton, Nicole Muschol , FOLLOW-UP; Alpha-mannosidosis; Best practice; Delphi; International; Monitoring;

Efficacy and safety of sapropterin before and during pregnancy

François Feillet, Can Ficicioglu, Florian B Lagler, Nicola Longo, Ania C Muntau, Alberto Burlina, Friedrich K Trefz, Francjan J van Spronsen, Jean-Baptiste Arnoux, Kristin Lindstrom, Joshua Lilienstein, Gillian E Clague, Richard Rowell, Barbara K Burton, , , REGISTRY; PKU; BH4; PREGNANCY; maternal PKU; Sapropterin;

Parental perception of treatment options for mucopolysaccharidosis: A survey to bridge the gap for personalized medicine

AM Wiesinger, MM Essing, F. Lagler

A Delphi consensus approach to monitoring and integrated care coordination of patients with alpha-mannosidosis

NM Muschol, BK Burton, C. Ficicioglu, M. Magner, M. Gil-Campos, M. Lopez-Rodriguez, P. Jayakar, A. Lund, G. Tal, JE Garcia, KM Stepien, C. Ellaway, W. Al-Hertani, R. Giugliani, S. Cathey, JB Hennermann, C. Lampe, M. McNutt, F. Lagler, M. Scarpa, VR Sutton, N. Guffon

Development of a suspicion index tool to aid diagnosis of ASMD disease

AM Wiesinger, W. Lauth, R. Giugliani, NM Muschol, C. Aries, D. Moeslinger, E. Mengel, D. Weghuber, F. Lagler

Individual Treatment Trials-Do Experts Know and Use This Option to Improve the Treatability of Mucopolysaccharidosis?

Anna Maria Wiesinger, H. Strobl, Florian Lagler , PAIN; N-OF-1 RANDOMIZED-TRIALS;

THE INFLAMMATION IN THE PATHOLOGY OF PATIENTS WITH MUCOPOLYSACCHARIDOSIS

AM Wiesinger, Florian Lagler, B. Bigger, C. Kampmann, R. Giugliani, M. Scarpa

The inflammation in the pathology of patients with mucopolysaccharidosis

Anna Maria Wiesinger, Florian Lagler, Brian Bigger, Christoph Kampmann, Roberto Giugliani, Maurizio Scarpa

Specific medical simulation trainings for parents of MPS patients: An innovative approach and its psychological benefits

Florian Lagler, AM Wiesinger, C. Lampe, A. Kraemer, M. Baumann

A precision medicine tool for high utilization and quality of individual treatment trials with immunomodulatory drugs in mucopolysaccharidosis

AM Wiesinger, B. Bigger, C. Lampe, R. Giugliani, C. Kampmann, Tobias Moser, M. Scarpa, Florian Lagler

THE INFLAMMATION IN THE PATHOLOGY OF PATIENTS WITH MUCOPOLYSACCHARIDOSIS

AM Wiesinger, Florian Lagler, B. Bigger, C. Kampmann, R. Giugliani, M. Scarpa

A Suspicion Index Tool (SIT) to aid diagnosis of ASMD disease: Design and first results

AM Wiesinger, Florian Lagler

An artificial intelligence-based approach for identifying rare disease patients using retrospective electronic health records applied for Pompe disease

SM Lin, J. Nateqi, R. Weingartner-Ortner, S. Gruarin, H. Marling, V. Pilgram, Florian Lagler, Elmar Aigner, AG Martin , PREVALENCE; PHENOTYPE; HYPERCKEMIA; NATIONWIDE;

Utilization of and barriers to individual treatment trials in mucopolysaccharidosis – interim results of an expert survey

Anna Maria Wiesinger, Florian Lagler, Maurizio Scarpa, Roberto Giugliani, Christina Lampe, Christoph Kampmann