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Plos One|June 30, 2025
Improving a data mining based diagnostic support tool for rare diseases on the example of M. Fabry: Gender differences need to be taken into accountPhilipp Hahn, Werner Lechner, Rainer-Georg Siefen, et al.
Molecular Genetics and Metabolism|November 21, 2017
Surgical management of neurological manifestations of mucopolysaccharidosis disordersTord D Alden, Hernán Amartino, Amauri Dalla Corte, et al.
Plos One|August 29, 2015
Comparison of Rebound Tonometry, Perkins Applanation Tonometry and Ocular Response Analyser in Mucopolysaccharidosis PatientsJoanna Wasielica-Poslednik, Christina Butsch, Christina Lampe, et al.
Journal of Inherited Metabolic Disease|March 24, 2012
Clinical characteristics of adults with slowly progressing mucopolysaccharidosis VI: a case seriesAnke Thümler, Elke Miebach, Christina Lampe, et al.
Orphanet Journal of Rare Diseases|March 8, 2014
Burden of disease in patients with Morquio A syndrome: results from an international patient-reported outcomes surveyChristian J Hendriksz, Christine Lavery, Mahmut Coker, et al.
Molecular Genetics and Metabolism|November 25, 2017
Practical management of behavioral problems in mucopolysaccharidoses disordersMaria L Escolar, Simon A Jones, Elsa G Shapiro, et al.
Journal of Inherited Metabolic Disease|September 25, 2013
Mucopolysaccharidosis VI: cardiac involvement and the impact of enzyme replacement therapyChristoph Kampmann, Christina Lampe, Catharina Whybra-Trümpler, et al.
Frontiers in Pharmacology|June 1, 2022
The Inflammation in the Cytopathology of Patients With Mucopolysaccharidoses- Immunomodulatory Drugs as an Approach to TherapyAnna-Maria Wiesinger, Brian Bigger, Roberto Giugliani, et al.
Molecular Genetics and Metabolism|July 21, 2019
Enzyme replacement therapy initiated in adulthood: Findings from the mucopolysaccharidosis VI Clinical Surveillance ProgramChristina Lampe, Paul R Harmatz, Rossella Parini, et al.
JIMD Reports|April 13, 2013
Development of a Scoring System to Evaluate the Severity of Craniocervical Spinal Cord Compression in Patients with Mucopolysaccharidosis IVA (Morquio A Syndrome)Christian Möllmann, Christian G Lampe, Wibke Müller-Forell, et al.
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