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JIMD Reports|July 25, 2016
Management of Life-Threatening Tracheal Stenosis and Tracheomalacia in Patients with MucopolysaccharidosesChristoph Kampmann, Christiane M Wiethoff, Ralf G Huth, et al.
Journal of Inherited Metabolic Disease|October 23, 2024
Natural history of valve disease in patients with mucopolysaccharidosis II and the impact of enzyme replacement therapyChristoph Kampmann, Christina Lampe, Christiane M Wiethoff, et al.
American Journal of Medical Genetics. Part A|October 28, 2014
International guidelines for the management and treatment of Morquio A syndromeChristian J Hendriksz, Kenneth I Berger, Roberto Giugliani, et al.
Klinische Padiatrie|February 19, 2020
Diagnosis and Care of Infants and Children with Pompe DiseaseAndreas Hahn, Julia B Hennermann, Martina Huemer, et al.
Drug Design, Development and Therapy|November 22, 2019
Cardio- Renal Outcomes With Long- Term Agalsidase Alfa Enzyme Replacement Therapy: A 10- Year Fabry Outcome Survey (FOS) AnalysisUma Ramaswami, Michael Beck, Derralynn Hughes, et al.
JIMD Reports|December 4, 2025
Female Patients With Mucopolysaccharidosis II (MPS II): Insights From the Hunter Outcome SurveyBarbara K Burton, Hernan Amartino, Roberto Giugliani, et al.
The Journal of Pediatrics|January 26, 2010
Four-year prospective clinical trial of agalsidase alfa in children with Fabry diseaseRaphael Schiffmann, Rick A Martin, Tyler Reimschisel, et al.
Journal of Perinatal Medicine|April 11, 2022
A single center experience in 90 cases with nonimmune hydrops fetalis: diagnostic categories ‒ mostly aneuploidy and still often idiopathicJulia Sturm, Heiko Milera, Stephanie Essmann, et al.
International Journal of Cardiology|August 22, 2008
Long term follow up after percutaneous closure of PFO in 357 patients with paradoxical embolism: Difference in occlusion systems and influence of atrial septum aneurysmRalph Stephan von Bardeleben, Claudia Richter, Julia Otto, et al.
Orphanet Journal of Rare Diseases|June 9, 2012
A cross-sectional single-centre study on the spectrum of Pompe disease, German patients: molecular analysis of the GAA gene, manifestation and genotype-phenotype correlationsAndreas Herzog, Ralf Hartung, Arnold J J Reuser, et al.
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