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Human Mutation|March 12, 2011
IDUA mutational profiling of a cohort of 102 European patients with mucopolysaccharidosis type I: identification and characterization of 35 novel α-L-iduronidase (IDUA) allelesFrancesca Bertola, Mirella Filocamo, Giorgio Casati, et al.
Journal of Clinical Medicine|March 7, 2020
Molecular Genetics of Niemann-Pick Type C Disease in Italy: An Update on 105 Patients and Description of 18 NPC1 Novel VariantsAndrea Dardis, Stefania Zampieri, Cinzia Gellera, et al.
Orphanet Journal of Rare Diseases|April 25, 2012
Capturing phenotypic heterogeneity in MPS I: results of an international consensus procedureMinke H de Ru, Quirine Ga Teunissen, Johanna H van der Lee, et al.
Journal of Inherited Metabolic Disease|February 9, 2010
Enzyme replacement therapy for mucopolysaccharidosis VI: evaluation of long-term pulmonary function in patients treated with recombinant human N-acetylgalactosamine 4-sulfatasePaul Harmatz, Zi-Fan Yu, Roberto Giugliani, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 28, 2026
Diagnostic delay in inherited metabolic diseases: Insights from the U-IMD registryJulian Teinert, Florian Gleich, Viktor Kozich, et al.
Orphanet Journal of Rare Diseases|April 22, 2021
Guidelines on the diagnosis, clinical assessments, treatment and management for CLN2 disease patientsSara E Mole, Angela Schulz, Eben Badoe, et al.
Human Mutation|December 30, 2014
Optimizing the molecular diagnosis of GALNS: novel methods to define and characterize Morquio-A syndrome-associated mutationsAnna Caciotti, Rodolfo Tonin, Miriam Rigoldi, et al.
Molecular Genetics and Metabolism|July 18, 2024
Monitoring and integrated care coordination of patients with alpha-mannosidosis: A global Delphi consensus studyNathalie Guffon, Barbara K Burton, Can Ficicioglu, et al.
Orphanet Journal of Rare Diseases|November 1, 2024
The European reference network for metabolic diseases (MetabERN) clinical pathway recommendations for Pompe disease (acid maltase deficiency, glycogen storage disease type II)Giancarlo Parenti, Simona Fecarotta, Marianna Alagia, et al.
Orphanet Journal of Rare Diseases|November 9, 2011
Mucopolysaccharidosis type II: European recommendations for the diagnosis and multidisciplinary management of a rare diseaseMaurizio Scarpa, Zsuzsanna Almássy, Michael Beck, et al.
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