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1. Bisphosphonate Treatment in a Patient Affected by MPS IVA with Osteoporotic Phenotype. (18th November 2013)

2. Carglumic acid enhances rapid ammonia detoxification in classical organic acidurias with a favourable risk-benefit profile: a retrospective observational study. Issue 1 (December 2016)

3. Clinical and molecular characterization of a second family with the 12q14 microdeletion syndrome and review of the literature. Issue 7 (13th April 2017)

6. Genetic heterogeneity in Rubinstein–Taybi syndrome: delineation of the phenotype of the first patients carrying mutations in EP300. Issue 5 (12th January 2007)

8. Isolated limb perfusion with the tumor‐targeting human monoclonal antibody–cytokine fusion protein L19‐TNF plus melphalan and mild hyperthermia in patients with locally advanced extremity melanoma1. Issue 2 (4th June 2012)

9. Molecular and clinical characterization of a series of patients with childhood-onset lysosomal acid lipase deficiency. Retrospective investigations, follow-up and detection of two novel LIPA pathogenic variants. (October 2017)