Recent Articles
-
July 15, 2022 Short Communication
Abstract Laron syndrome (LS) or primary growth hormone (GH) insensitivity is caused by deletions or mutations in the GH-receptor gene. Its clinical characteristic is dwarfism, acromicria, obesity and protruding forehead. Patients homozygous for these gene def.....
-
May 04, 2017 Original Research
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. It is a rare disease in terms of epidemiology of tumor incidence by age groups. The key ro.....
-
March 09, 2017 Case Report
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. The pantothenate ki.....
-
July 13, 2020 Case Series
Abstract Backgrounds: Alveolar capillary dysplasia with misalignment of the pulmonary veins (ACD/ MPV) is a rare fatal disease. There are around 200 cases reported in the literature. It is a disorder of immature lobular development and reduced capillary de.....
-
June 10, 2019 Perspective
Abstract Rigorously testing the growing medication pipeline for rare conditions continues to be an industry challenge. The low prevalence rates for rare diseases run contrary to the phased drug development processes that are the standard and poses signifi.....
-
July 25, 2017 Commentary
-
January 23, 2017 Case Report
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. Its clinical manifestation may vary (hyperleukocytosis, thrombocytopenia, or.....
-
January 27, 2017 Case Report
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. Urinary fractional.....
