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Rare Disease and Orphan Drugs Journal

           C O NT E NT S


                                                                                                     Volume 2 / Issue 1 / March 2023 /



           Review                                                Original Article
           1       Elastase-dependent congenital neutropenia     4       Health disparities in Turner Syndrome:
                    Angelika Mazur, Joanna Skrzeczynska-Moncznik,            UTHealth Turner Syndrome Research Registry
                    Pawel Majewski, Joanna Cichy                          Priscille Donate, Michelle Rivera-Davila,

                                                                          Siddharth K. Prakash
           Case Report
           2       A report and review of the recurrent c.811C>T   Review
                    variant and mutation spectrum of Kindler     5   Immune cell-derived serine protease as
                    syndrome in East Asians: a diagnostic odyssey of 2   pathogeni drivers of vascular remodeling in
                    weeks versus 49 years                            pulmonary arterial hypertension
                    Annie Tsz Wai Chu, Joshua Chun Ki Chan,          Izabela Borek, Grazyna Kwapiszewska
                    Jasmine Lee Fong Fung, Wenshu Tang, Mianne Lee,
                    Man Ho Chung, Geoffrey Yu, Vivien Li,
                    Calvin Tik Hei Ng, Hong Kong Genome Project,
                    Brian Hon Yin Chung

           Perspective
           3       Cathepsin K: both a likely biomarker and a new
                    therapeutic target in lymphangioleiomyomatosis?
                    Sylvain Marchand-Adam, Marion Pronost,
                    Ahlame Saidi, Fabien Lecaille, Gilles Lalmanach






































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