Wide diagnostic and genotypic spectrum in patients with suspected mitochondrial disease
Mitochondrial Diseases (MDs) are a diverse group of neurometabolic disorders characterized by impaired mitochondrial oxidative phosphorylation and caused by pathogenic variants in more than 400 genes. The impl... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - October 2, 2023 Category: Internal Medicine Authors: Kristina Grigalionien ė, Birutė Burnytė, Laima Ambrozaitytė and Algirdas Utkus Tags: Research Source Type: research
Small intestinal mucosal abnormalities using video capsule endoscopy in intestinal lymphangiectasia
Intestinal lymphangiectasia (IL) is a rare protein-losing enteropathy caused by disorders of the intestinal lymphatics. There are only a few case reports and case series concerning the VCE (video capsule endos... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - October 2, 2023 Category: Internal Medicine Authors: Lin Lin, Kuiliang Liu, Hong Liu, Jianfeng Xin, Yuguang Sun, Song Xia, Wenbin Shen and Jing Wu Tags: Research Source Type: research
Follow-up of pre-motor symptoms of Parkinson ’s disease in adult patients with Gaucher disease type 1 and analysis of their lysosomal enzyme profiles in the CSF
Parkinson ’s disease (PD) is the second most common neurodegenerative disease worldwide. Its classic motor symptoms may be preceded by non-motor symptoms (NMS). Population studies have identified GBA variants as r... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - October 2, 2023 Category: Internal Medicine Authors: Matheus Vernet Machado Bressan Wilke, Fabiano Poswar, Wyllians Vendramini Borelli, Kristiane Michelin Tirelli, D évora Natalia Randon, Franciele Fátima Lopes, Fernanda Bender Pasetto, Fernanda Medeiros Sebastião, Gabrielle Dineck Iop, Larissa Faqueti, Tags: Research Source Type: research
Late-onset cblC defect: clinical, biochemical and molecular analysis
This study aimed to describe clinical chara... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - September 28, 2023 Category: Internal Medicine Authors: Si Ding, Shiying Ling, Lili Liang, Wenjuan Qiu, Huiwen Zhang, Ting Chen, Xia Zhan, Feng Xu, Xuefan Gu and Lianshu Han Tags: Research Source Type: research
The International X-Linked Hypophosphatemia (XLH) Registry: first interim analysis of baseline demographic, genetic and clinical data
X-linked hypophosphatemia (XLH) is a rare, hereditary, progressive, renal phosphate-wasting disorder characterized by a pathological increase in FGF23 concentration and activity. Due to its rarity, diagnosis m... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - September 27, 2023 Category: Internal Medicine Authors: Gema Ariceta, Signe Sparre Beck-Nielsen, Annemieke M. Boot, Maria Luisa Brandi, Karine Briot, Carmen de Lucas Collantes, Francesco Emma, Sandro Giannini, Dieter Haffner, Richard Keen, Elena Levtchenko, Outi M ӓkitie, M. Zulf Mughal, Ola Nilsson, Dirk Sch Tags: Research Source Type: research
Intrauterine phenotype features of fetuses with 7q11.23 microduplication syndrome
To share our experience on prenatal diagnosis of 7q11.23 microduplication syndrome and to further delineate the fetal phenotypes of the syndrome. (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - September 27, 2023 Category: Internal Medicine Authors: Yunan Wang, Chang Liu, Rong Hu, Juan Geng, Jian Lu, Xin Zhao, Ying Xiong, Jing Wu and Aihua Yin Tags: Research Source Type: research
Pharmacovigilance for rare diseases: a bibliometrics and knowledge-map analysis based on web of science
The aims of this paper is to search and explore publications in the field of pharmacovigilance for rare diseases and to visualize general information, research hotspots, frontiers and future trends in the fiel... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - September 26, 2023 Category: Internal Medicine Authors: Mengdan Xu, Guozhi Li, Jiazhao Li, Huiyu Xiong and Suzhen He Tags: Review Source Type: research
Low-dose anti-IL 5 treatment in idiopathic hypereosinophilic syndrome: towards a precision medicine approach for remission maintenance
Mepolizumab at the dose of 300 mg/4 weeks has been recently approved as an add-on therapy for patients with uncontrolled hypereosinophilic syndrome (HES) without any identifiable non-hematologic secondary caus... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - September 26, 2023 Category: Internal Medicine Authors: Marco Caminati, Matteo Maule, Roberto Benoni, Claudio Micheletto, Cristina Tecchio, Rachele Vaia, Lucia De Franceschi, Gabriella Guarnieri, Andrea Vianello and Gianenrico Senna Tags: Letter to the Editor Source Type: research
Integrative rare disease biomedical profile based network supporting drug repurposing or repositioning, a case study of glioblastoma
This study aims to identify drug repurposing or repositioning candidates ... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - September 25, 2023 Category: Internal Medicine Authors: Erin McGowan, Jaleal Sanjak, Ewy A. Math é and Qian Zhu Tags: Research Source Type: research
Psychiatric burden in a cohort of adults with Niemann Pick type C disease: from psychotic symptoms to frontal lobe behavioral disorders
To describe Niemann-Pick type C (NP-C) behavioral symptoms (focusing on psychotic symptoms) and its relation to frontal lobe functioning. (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - September 22, 2023 Category: Internal Medicine Authors: A. Morin, G. Carle, A. Ponchel, G. Fern ández-Eulate and Y. Nadjar Tags: Research Source Type: research
Innovative thinking of clinical investigation for rare disease drug development
For the development of a test treatment or drug product, it is necessary to conduct composite hypothesis testing to test for effectiveness and safety simultaneously, since some approved drug products have been... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - September 22, 2023 Category: Internal Medicine Authors: Peijin Wang and Shein-Chung Chow Tags: Review Source Type: research
Health-related quality of life in a european sample of adults with early-treated classical PKU
Phenylketonuria (PKU) is a rare inborn error of metabolism affecting the catabolism of phenylalanine (Phe). To date, findings regarding health-related quality of life (HRQoL) in adults with early-treated class... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - September 22, 2023 Category: Internal Medicine Authors: Stephanie Maissen-Abgottspon, Raphaela Muri, Michel Hochuli, P éter Reismann, András Gellért Barta, Ismail Mucahit Alptekin, Álvaro Hermida-Ameijeiras, Alessandro P. Burlina, Alberto B. Burlina, Chiara Cazzorla, Jessica Carretta, Roman Trepp and Regul Tags: Research Source Type: research
Sintilimab treatment for chronic active Epstein –Barr virus infection and Epstein–Barr virus-associated hemophagocytic lymphohistiocytosis in children
Chronic active Epstein –Barr virus infection (CAEBV) and Epstein–Barr virus-associated hemophagocytic lymphohistiocytosis (EBV-HLH) are rare but life-threatening progressive diseases triggered by EBV infection.... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - September 22, 2023 Category: Internal Medicine Authors: Ruyue Chen, Qiang Lin, Yun Zhu, Yunyan Shen, Qinying Xu, Hanyun Tang, Ningxun Cui, Lu Jiang, Xiaomei Dai, Weiqing Chen and Xiaozhong Li Tags: Research Source Type: research
Guidance to develop a multidisciplinary, international, pediatric registry: a systematic review
The European Reference Network for craniofacial anomalies and ear, nose and throat disorders (ERN-CRANIO) aims to improve craniofacial care on a European scale. Within ERN-CRANIO, the cleft lip and palate (CL/... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - September 21, 2023 Category: Internal Medicine Authors: S. Ombashi, P. A. J. van der Goes, S. L. Versnel, R. H. Khonsari and A. E. Mink van der Molen Tags: Review Source Type: research
Scoliosis in osteogenesis imperfecta: identifying the genetic and non-genetic factors affecting severity and progression from longitudinal data of 290 patients
Scoliosis is widely prevalent among osteogenesis imperfecta (OI) patients, and is progressive with age. However, factors affecting scoliosis in OI are not well known. (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - September 20, 2023 Category: Internal Medicine Authors: Peikai Chen, Yapeng Zhou, Zhijia Tan, Yunzhi Lin, Daniel Li-Liang Lin, Jingwei Wu, Zeluan Li, Hiu Tung Shek, Jianbin Wu, Yong Hu, Feng Zhu, Danny Chan, Kenneth Man-Chee Cheung and Michael Kai-Tsun To Tags: Research Source Type: research
