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Orphanet Journal of Rare Diseases|October 15, 2013
The clinical relevance of outcomes used in late-onset Pompe disease: can we do better?Robin Lachmann, Benedikt SchoserJournal of Medical Case Reports|May 18, 2018
Valproate-induced hyperammonemia - uncovering an underlying inherited metabolic disorder: a case reportShaine Mehta, Sarrah Tayabali, Robin LachmannDrug Discovery Today|February 19, 2018
Adaptive pathway development for Fabry disease: a clinical approachYvonne Schuller, Maarten Arends, Simon Körver, et al.Journal of Inherited Metabolic Disease|April 29, 2018
Mucolipidosis type III, a series of adult patientsEsmee Oussoren, David van Eerd, Elaine Murphy, et al.Molecular Genetics and Metabolism|September 15, 2018
Development and clinical consequences of white matter lesions in Fabry disease: a systematic reviewSimon Körver, Magda Vergouwe, Carla E M Hollak, et al.Journal of Gastrointestinal and Liver Diseases : JGLD|December 24, 2015
Hepatocellular Adenomas and Carcinoma in Asymptomatic, Non-Cirrhotic Type III Glycogen Storage DiseaseLeendert H Oterdoom, K Evelyne Verweij, Katharina Biermann, et al.Journal of Inherited Metabolic Disease|January 8, 2022
Clinical characteristics of primary carnitine deficiency: A structured review using a case-by-case approachLoek L Crefcoeur, Gepke Visser, Sacha Ferdinandusse, et al.BMJ Case Reports|August 5, 2020
Multidisciplinary approach in medicine: successful pregnancy in a patient with hyperinsulinism/hyperammonaemia (HI/HA) syndromeBernadette J M Benner, Mijke Bazelmans, Hidde Huidekoper, et al.International Journal of Molecular Sciences|September 14, 2024
Establishing Treatment Effectiveness in Fabry Disease: Observation-Based Recommendations for ImprovementBram C F Veldman, Daphne H Schoenmakers, Laura van Dussen, et al.Journal of Inherited Metabolic Disease|February 22, 2020
Developments in the treatment of Fabry diseaseSanne J van der Veen, Carla E M Hollak, André B P van Kuilenburg, et al.Pageof 13