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  • International Journal of Rare Diseases & Orphan Drugs
    International Journal of Rare Diseases & Orphan Drugs is a peer-reviewed journal that aims to publish scholarly papers of highest quality and significance in the field of basic science, diagnosis, prevention, treatment of rare diseases and development of orphan drugs. The journal publishes original research articles, review articles, clinical reports, case studies, commentaries, editorials, and letters to the Editor.

    Diagnosis of Behcet's Disease in Patients with Intracardiac Thrombi: A Real Big Challenge
    Authors: Heba Farouk1*, Elshaymaa Elsaid2, Karim El‐Chilali3
    Abstract: To conduct a systematic review of published case reports and case series on the management of intracardiac thrombi (ICT) in patients with Behcet's disease (BD).
    Hepatocyte-Specific Contrast-enhanced MRI for Quantitative Assessment of Liver Function in Children
    Authors: James E Squires1, Daniel Wallihan2, Kelly Bradley2, Suraj Serai2, Mantosh Rattan2, Alexander Miethke1
    Abstract: Objectives: The liver is a complex, multifunctional organ involved in a variety of critical processes. Accurate determination of liver function in children is difficult and current biomarkers often fail to truly assess functional capacity. Advances in magnetic resonance imaging (MRI)
    Pulmonary Vascular Tangle: Unusual Cause of Hemoptysis
    Authors: Sravanthi Nandavaram*, Bisma Alam, Ioana Amzuta
    Abstract: Pulmonary vascular malformation is an unusual cause of hemoptysis. These abnormal vascular communications between pulmonary circulations or between pulmonary and systemic circulations can result in significant dyspnea, hemoptysis and hypoxemia. Pulmonary vascular malformations can take various forms.
    Hypomagnesemia Associated with Caroli’s Disease
    Authors: Mohsen El Kossi*
    Abstract: Caroli’s disease is a hereditary disorder invariably associated with biochemical changes characteristic of cholestasis and/or chronic kidney disease (CKD). Two cases of Caroli’s disease with CKD presented with hypomagnesemia.
    Neonatal leukemia cutis presenting with dysmorphic features and cutis laxa
    Authors: Francesca Dini*, Cristina Tuoni, Ilaria Vannozzi, Benedetta Toschi, Elisabetta Alberti, Margherita Nardi, Veronica Bertini, Angelo Valetto, Matteo Giampietri, Marco Vuerich, Massimiliano Ciantelli, Antonio Boldrini, Paolo Ghirri
    Abstract: Congenital leukemia is a rare disease with particular biological and clinical characteristics, which differs from those of older children. Its prognosis is generally poor.
    A Pilot Study of a Potential Phosphopantothenate Replacement Therapy in 2 Patients With Pantothenate Kinase-Associated Neurodegeneration
    Authors: Pedro Roa*, Peter Stoeter, Eddy Perez-Then, Madeline Santana, Randall D. Marshall
    Abstract: Pantothenate kinase-associated neurodegeneration (PKAN) is an autosomal recessive disorder linked to mutations in the PANK2 gene, presenting with mixed-motor symptoms of dystonia and parkinsonism in childhood to early adulthood.
    RNAi Regulation Profile Comparison in SH-Sy5y and U87 Cells: Response upon β Endorphin
    Authors:Seung Chan Kim*, Wooseok Im, Olesya Shulipa, Beom Jin Kim
    Abstract: Glioblastoma (GBM) is an important tumor that has prevalence in childhood over adults, whereas many other types of tumor have high incidence after adolescence.
    • Neonatal leukemia cutis presenting with dysmorphic features and cutis laxa
    • Francesca Dini*, Cristina Tuoni, Ilaria Vannozzi, Benedetta Toschi, Elisabetta Alberti, Margherita Nardi, Veronica Bertini, Angelo Valetto, Matteo Giampietri, Marco Vuerich, Massimiliano Ciantelli, Antonio Boldrini, Paolo Ghirri
    • Citation: Dini F, Tuoni C, Vannozzi I, Toschi B, Alberti E, Nardi M, Bertini V, Valetto A, Giampietri M, Vuerich M, Ciantelli M, Boldrini A, Ghirri P (2017) Neonatal leukemia cutis presenting with dysmorphic features and cutis laxa. Int J Rare Dis Orphan Drugs 2(1): 1005
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    ISMTE 2016 North American Conference: A Space Where Peers Talk “Best Practices” and Big Changes.
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