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Rare Disease and Orphan Drugs Journal

C O NT E NT S

Volume 2 / Issue 3 / Sep 2023 /

Case Report Opinion
11 Biallelic cubilin pathogenic variants as a cause of 17 Could federated data analysis be the catalyst
«benign » proteinuria: implications for clinical accelerating the introduction of newborn genome
management screening for the detection of genetic disease?
Valentine Gillion, Karin Dahan, Nathalie Godefroid Petros Tsipouras, Maria Chatzou Dunford, Hadley
Sheppard, Hannah Gaimster, Theoklis Zaoutis
Review
12 RNA antisense and silencing strategies using Case Report
synthetic drugs for rare muscular and 18 Factors influencing pulmonary arterial pressure in
neuromuscular diseases three related patients with Cantú syndrome:
Daniel Scherman glyburide may provide precision care
Ronald W. Day, Benjamin F. Call
Original Article
13 Coenzyme Q10, Vitamin E and Polyvitamin B: an
exploratory double-blind randomized cross-over
study in Phelan-McDermid Syndrome
Antonio M. Persico , Arianna Ricciardello,Francesca
Cucinotta, Laura Turriziani, Giorgia Calabrese,
Pasquale Tomaiuolo, Tiziana Di Bella, Fabiana
Bellomo, Maria Boncoddo, Giada Turturo, Silvestro
Mirabelli, Lisa Asta, Federico Banchelli, Riccardo
Cuoghi Costantini, Roberto D’Amico

Review
14 Cathepsin C: structure, function, and
pharmacological targeting
Milena Stojkovska Docevska, Marko Novinec

Correction
15 Correction: A report and review of the recurrent
c.811C > T variant and mutation spectrum of
Kindler syndrome in East Asians: a diagnostic
odyssey of 2 weeks versus 49 years
Valentine Gillion, Karin Dahan, Nathalie Godefroid

Systematic Review
16 A systematic review of real-world applications of
genome sequencing for newborn screening
Giuditta Magnifico, Irene Artuso, Stefano Benvenuti

Rare Disease and Orphan Drugs Journal | Volume 2 | Issue 3 | Sep 2023 III