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Molecular Human Reproduction|August 30, 2005
Gender-sensitive association of CFTR gene mutations and 5T allele emerging from a large survey on infertilityAntonella Morea, Marilena Cameran, Anna Grazia Rebuffi, et al.
Orphanet Journal of Rare Diseases|June 17, 2017
Open issues in Mucopolysaccharidosis type I-HurlerRossella Parini, Federica Deodato, Maja Di Rocco, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 19, 2015
Cystic fibrosis carrier screening effects on birth prevalence and newborn screeningCarlo Castellani, Luigi Picci, Gloria Tridello, et al.
Expert Opinion on Drug Delivery|July 4, 2024
Challenges and opportunities in neurometabolic disease treatment with enzyme deliveryDavid Begley, Reinhard Gabathuler, Gregory Pastores, 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.
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.
Molecular Genetics and Metabolism|November 21, 2017
Treatment of brain disease in the mucopolysaccharidosesMaurizio Scarpa, Paul J Orchard, Angela Schulz, et al.
Developmental Medicine and Child Neurology|March 15, 2012
Non-convulsive status epilepticus of frontal origin in mucopolysaccharidosis type II successfully treated with ethosuximidePaolo Bonanni, Marco Gubernale, Federica Martinez, et al.
The British Journal of Ophthalmology|September 21, 2010
Diagnosis and management of ophthalmological features in patients with mucopolysaccharidosisStefano Ferrari, Diego Ponzin, Jane L Ashworth, et al.
European Journal of Pediatrics|January 9, 2009
Mucopolysaccharidosis VI: the Italian experienceMaurizio Scarpa, Rita Barone, Agata Fiumara, et al.
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