Results 1 to 10 of about 1,622,414 (348)

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

Expert Consensus on the Application of Multi-criteria Decision Analysis in Clinical Comprehensive Evaluation of Orphan Drugs(2022)

Xiehe Yixue Zazhi, 2022
Comprehensive drug evaluation is an important technical tool for decision-making on drug supply. Traditional health technology of evaluation provides methodological references for comprehensive clinical evalu-ation of drugs.
Multi-disciplinary Team for Rare Diseases, Peking Union Medical College Hospital, National Rare Diseases Committee
doaj   +1 more source

Expert Consensus on Clobazam in the Treatment of Refractory Epilepsy (2022)

Xiehe Yixue Zazhi, 2022
After regular anti-epileptic drug treatment, the symptoms of most patients with epilepsy can be well controlled or relieved, but 30%-40% of patients with epilepsy, after long-term drug treatment, still suffer from repeated seizures and develop refractory
Multi-disciplinary Team for Rare Diseases, Peking Union Medical College Hospital National Rare Diseases Committee
doaj   +1 more source

Expert Consensus on the Application of Multiple criteria Decision Analysis in Comprehensive Clinical Evaluation of Orphan Drugs(2022)

罕见病研究, 2022
Comprehensive clinical drug evaluation is an important technical tool for decision-making on drug supply. Traditional evaluation on health technology provides methodological references for comprehensive clinical evalu-ation of drugs.
Multi-disciplinary Team for Rare Diseases, Peking Union Medical College Hospital, China Alliance for Rare Diseases   +1 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

Expert Consensus on Bilateral Inferior Petrosal Sinus Sampling in the Diagnosis of Cushing′s Syndrome (2023)

罕见病研究, 2023
Cushing′s syndrome(CS)is a clinical syndrome caused by a variety of causes, with main manifestations exhibited by central obesity, purple skin striae, hypertension, and diabetes. In patients with adrenocorticotropic hormone(ACTH)-dependent CS, the result
Chinese Medical Association Rare Diseases Branch, Hypothalamic and Pituitary Disease Group of China Alliance of Rare Diseases (CARD), Innovation Center of Pituitary Diseases, Peking Union Medical College Hospital   +1 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

Consensus on the Treatment of Adrenocortical Carcinoma with Mitotane(2021)

Xiehe Yixue Zazhi, 2021
Adrenocortical carcinoma (ACC) is a rare malignant tumor that occurs in the adrenal cortex, and surgery is the first choice for treating ACC. Medical therapy and radiotherapy are adjuvant treatments for patients with unresectable metastasized tumors or ...
Multi-disciplinary Team for Rare Diseases, Peking Union Medical College Hospital
doaj   +1 more source

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

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