Martina Huemer (M Huemer)

Publication Activity (10 Years)

Years Active: 2019-2024
Publications (10 Years): 16

Top Topics

Low Birth Weight

Patient Satisfaction

Psychometric Properties

Top Venues

Journal of inherited metabolic disease

Orphanet journal of rare diseases

International journal of neonatal screening

This page only lists publications with an associated author ORCID identifier.

Publications

Moritz Ilan Truninger, Helene Werner, Markus Andreas Landolt, Andreas Hahn, Julia B Hennermann, Florian B Lagler, Dorothea Möslinger, Charlotte Pfrimmer, Marianne Rohrbach, Martina Huemer
The PompeQoL questionnaire: Development and validation of a new measure for children and adolescents with Pompe disease. Journal of inherited metabolic disease (2024)
Stella Knöpfli, Bernadette Goeschl, Maximilian Zeyda, Anna Baghdasaryan, Margot Baumgartner-Kaut, Matthias R Baumgartner, Marion Herle, Julian Margreitter, Martin Poms, Saskia B Wortmann, Vassiliki Konstantopoulou, Martina Huemer
The Benefit of Detecting Reduced Intracellular B12 Activity through Newborn Screening Remains Unclear. International journal of neonatal screening 10 (2) (2024)
Stella Knöpfli, Bernadette Goeschl, Maximilian Zeyda, Anna Baghdasaryan, Margot Baumgartner-Kaut, Matthias R Baumgartner, Marion Herle, Julian Margreitter, Martin Poms, Saskia B Wortmann, Vassiliki Konstantopoulou, Martina Huemer
The Benefit of Detecting Reduced Intracellular B12 Activity through Newborn Screening Remains Unclear. International journal of neonatal screening 10 (2) (2024)
Stella Knöpfli, Bernadette Goeschl, Maximilian Zeyda, Anna Baghdasaryan, Margot Baumgartner-Kaut, Matthias R Baumgartner, Marion Herle, Julian Margreitter, Martin Poms, Saskia B Wortmann, Vassiliki Konstantopoulou, Martina Huemer
The Benefit of Detecting Reduced Intracellular B12 Activity through Newborn Screening Remains Unclear. International journal of neonatal screening 10 (2) (2024)
Martina Huemer, Florin Bösch
Measuring what matters: Why and how to include patient reported outcomes in clinical care and research on inborn errors of metabolism. Journal of inherited metabolic disease (2023)
Martina Huemer, Florin Bösch
Measuring what matters: why and how to include patient reported outcomes in clinical care and research on inborn errors of metabolism. Journal of inherited metabolic disease (2023)
Miriam Wirthensohn, Susanne Wehrli, Ulf Wike Ljungblad, Martina Huemer
Biochemical, Nutritional, and Clinical Parameters of Vitamin B12 Deficiency in Infants: A Systematic Review and Analysis of 292 Cases Published between 1962 and 2022. Nutrients 15 (23) (2023)
Ulrike Mütze, Florian Gleich, Sven F Garbade, Céline Plisson, Luis Aldámiz-Echevarría, Francisco Arrieta, Diana Ballhausen, Matthias Zielonka, Danijela Petković Ramadža, Matthias R Baumgartner, Aline Cano, María Concepción García Jiménez, Carlo Dionisi-Vici, Pavel Ješina, Henk J Blom, Maria Luz Couce, Silvia Meavilla Olivas, Karine Mention, Fanny Mochel, Andrew A M Morris, Helen Mundy, Redonnet-Vernhet Isabelle, Saikat Santra, Manuel Schiff, Aude Servais, Isidro Vitoria, Martina Huemer, Viktor Kožich, Stefan Kölker
Postauthorization safety study of betaine anhydrous. Journal of inherited metabolic disease 45 (4) (2022)
Florin Bösch, Nina A Zeltner, Matthias R Baumgartner, Martina Huemer, Markus A Landolt
Key patient-reported outcomes in children and adolescents with intoxication-type inborn errors of metabolism: an international Delphi-based consensus. Orphanet journal of rare diseases 17 (1) (2022)
Christiane Reiser, Nina A Zeltner, Beatrix Rettenbacher, Petra Baumgaertner, Martina Huemer, Christian Huemer
Explaining juvenile idiopathic arthritis to paediatric patients using illustrations and easy-to-read texts: improvement of disease knowledge and adherence to treatment. Pediatric rheumatology online journal 19 (1) (2021)
T Morrison, F Bösch, M A Landolt, V Kožich, Martina Huemer, A A M Morris
Homocystinuria patient and caregiver survey: experiences of diagnosis and patient satisfaction. Orphanet journal of rare diseases 16 (1) (2021)
Marion Herle, Michaela Brunner-Krainz, Daniela Karall, Bernadette Goeschl, Dorothea Möslinger, Joachim Zobel, Barbara Plecko, Sabine Scholl-Bürgi, Johannes Spenger, Saskia B Wortmann, Martina Huemer
A retrospective study on disease management in children and adolescents with phenylketonuria during the Covid-19 pandemic lockdown in Austria. Orphanet journal of rare diseases 16 (1) (2021)
Florin Bösch, Markus Andreas Landolt, Matthias R Baumgartner, Nina A Zeltner, Stefan Kölker, Florian Gleich, Alberto B Burlina, Chiara Cazzorla, Wendy Packman, Ida Vanessa Döederlein Schwartz, Eduardo Vieira Neto, Márcia G Ribeiro, Diego Martinelli, Giorgia Olivieri, Martina Huemer
Health-related quality of life in paediatric patients with intoxication-type inborn errors of metabolism: Analysis of an international data set. Journal of inherited metabolic disease 44 (1) (2020)
Martina Huemer
When to measure plasma homocysteine and how to place it in context: The homocystinurias. Journal of mother and child 24 (2) (2020)
Martina Huemer, Matthias R Baumgartner
The clinical presentation of cobalamin-related disorders: From acquired deficiencies to inborn errors of absorption and intracellular pathways. Journal of inherited metabolic disease 42 (4) (2019)
Nina A Zeltner, Mendy M Welsink-Karssies, Markus A Landolt, Dominique Bosshard-Bullinger, Fabia Keller, Annet M Bosch, Marike Groenendijk, Sarah C Grünert, Daniela Karall, Beatrix Rettenbacher, Sabine Scholl-Bürgi, Matthias R Baumgartner, Martina Huemer
Reducing complexity: explaining inborn errors of metabolism and their treatment to children and adolescents. Orphanet journal of rare diseases 14 (1) (2019)