Results 1 to 10 of about 2,414,789 (346)

Trends, lag and characteristics of rare disease drug approval in the USA and China, 1983-2022. [PDF]

Orphanet J Rare Dis
Wang S, Liu X, Zou Y, Tang Y, Zuo W, Jiang R, Shang J, Tian X, Liu Q, Xu T, Zhang B, Zhang S.   +11 more
europepmc   +2 more sources

Expert Consensus for the Diagnosis and Treatment of Gitelman Syndrome in China (2021)

罕见病研究, 2022
In recent years, research on the clinical phenotypes, new classifications, modified functional tests, biomarkers and management experience for patients with Gitelman syndrome (GS)has made a lot of progress in China. Based on evidence-based medicine, this
Rare Diseases Society of Chinese Research Hospital Association, China Alliance for Rare Disease, Beijing Society of Rare Disease Clinical Care and Accessibility, Gitelman Syndrome Consensus Working Group   +3 more
doaj   +1 more source

Clinical Practice Guideline for Adolescent & Adult Patients with Spinal Muscular Atrophy

罕见病研究, 2023
In recent years, spinal muscular atrophy (SMA) has made progress in multidisciplinary treatment and disease-modifying therapeutic drugs, so that the progress has significantly improved the survival and quality of life of the patients.
Rare Disease Society of Chinese Research Hospital Association, China Alliance for Rare Diseases, Beijing Society of Rare Disease Clinical Care and Accessibility, China Expert Group for Clinical Practice Guideline for Adolescent & Adult Patients with Spinal Muscular Atrophy   +3 more
doaj   +5 more sources

Expert Consensus for the Diagnosis and Treatment of Bartter Syndrome in China(2023)

Xiehe Yixue Zazhi, 2023
Bartter syndrome (BS) is a rare inherited salt-losing renal tubular disorder characterized by secondary hyperaldosteronism with hypokalemia and hypochloremic metabolic alkalosis, and normal or low blood pressure.
Chinese Society of Rare Diseases, Rare Diseases Society of Chinese Research Hospital Association, National Rare Diseases Committee, Beijing Rare Disease Diagnosis, Treatment and Protection Society   +4 more
doaj   +1 more source

Rare Autoinflammatory Diseases

Turkish Archives of Pediatrics, 2021
Systemic autoinflammatory diseases are disorders caused by dysregulation of the innate immune system leading to systemic inflammation. Since the first gene had been identified causing Familial Mediterranean Fever, the most common hereditary systemic autoinflammatory disease, advances in genomic techniques and awareness of the diseases have led to ...
Başaran, Özge, Bilginer, Yelda, Özen, Seza   +2 more
openaire   +2 more sources

Atypical Hemolytic Uremic Syndrome Treated With Ravulizumab or Eculizumab: A Claims-Based Evaluation of Health Care Resource Utilization and Clinical Outcomes in the United StatesPlain language summary

Kidney Medicine, 2023
Rationale and Objective: Ravulizumab and eculizumab have shown efficacy for the treatment of atypical hemolytic uremic syndrome (aHUS), but real-world evidence for ravulizumab is limited owing to its more recent approval.
Yan Wang, Imad Al-Dakkak, Katherine Garlo, Moh-Lim Ong, Ioannis Tomazos, Arash Mahajerin   +5 more
doaj   +1 more source

IntroducingRare Diseases [PDF]

Rare Diseases, 2013
We are pleased to introduce Rare Diseases, an open access journal dedicated to publishing high-quality research that addresses the many aspects related to rare diseases. Rare Diseases will cover a range of topics including the studies of disease-related proteins, the analyses of rare disease mutations, gene expression studies, genotype-phenotype ...
Szajner, Patricia, Yusufzai, Timur
openaire   +2 more sources

Hemostatic efficacy of marstacimab alone or in combination with bypassing agents in hemophilia plasmas and a mouse bleeding model

Research and Practice in Thrombosis and Haemostasis, 2022
Background Patients with hemophilia have deficiencies in intrinsic coagulation factors and can develop inhibitors that limit the effectiveness of replacement coagulation factors.
Debra D. Pittman, Swapnil Rakhe, Sheryl R. Bowley, Reema Jasuja, Amey Barakat, John E. Murphy   +5 more
doaj   +1 more source

Expert Consensus for the Diagnosis and Treatment of Gitelman Syndrome in China (2021)

Xiehe Yixue Zazhi, 2021
In recent years, research on the clinical phenotypes, new classifications, modified functional tests, biomarkers and management experience for patients with Gitelman syndrome (GS)has made a lot of progress in China. Based on evidence-based medicine, this
Rare Diseases Society of Chinese Research Hospital Association, National Rare Diseases Committee, Beijing Rare Disease Diagnosis, Treatment and Protection Society, Gitelman Syndrome Consensus Working Group
doaj   +1 more source

Producing amyloid fibrils in vitro: A tool for studying AL amyloidosis

Biochemistry and Biophysics Reports, 2023
Amyloid light-chain (AL) amyloidosis is the second most common form of systemic amyloidosis which is characterized by a high level of mortality and no effective treatment to remove fibril deposition.
Daria V. Sizova, Steve Raiker, Deaneira Lakheram, Vishwanatha Rao, Andrew Proffitt, Yazen Jmeian, Walter Voegtli, Melissa Batonick   +7 more
doaj   +1 more source