Results 21 to 30 of about 11,812,623 (407)
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) +1 more
doaj +1 more source
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
Recommendations for whole genome sequencing in diagnostics for rare diseases
European Journal of Human Genetics, 2022 In 2016, guidelines for diagnostic Next Generation Sequencing (NGS) have been published by EuroGentest in order to assist laboratories in the implementation and accreditation of NGS in a diagnostic setting.
E. Souche +30 more
semanticscholar +1 more source
Journal of clinical pharmacology, 2022 Rare diseases represent a highly heterogeneous group of disorders with high phenotypic and genotypic diversity within individual conditions. Due to the small numbers of people affected, there are unique challenges in understanding rare diseases and drug ...
Jing Liu +6 more
semanticscholar +1 more source
The impact of consanguinity on human health and disease with an emphasis on rare diseases
Journal of Rare Diseases, 2022 Purpose Consanguinity increases the likelihood of the inheritance of homozygous pathogenic alleles which may predispose to rare autosomal recessive disorders.
G. Temaj, N. Nuhii, J. Sayer
semanticscholar +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 +3 more
doaj +1 more source
Diagnostic delay in rare diseases: data from the Spanish rare diseases patient registry
Orphanet Journal of Rare Diseases, 2022 Background According to the International Rare Diseases Research Consortium (IRDiRC), a known rare disease (RD) should be diagnosable within a year.
Juan Benito-Lozano +4 more
semanticscholar +1 more source
Orphanet Journal of Rare Diseases, 2022 The Brazilian Policy of Comprehensive Care for People with Rare Diseases (BPCCPRD) was established by the Ministry of Health to reduce morbidity and mortality and improve the quality of life of people with rare diseases (RD).
T. Félix +59 more
semanticscholar +1 more source
Research and development of oligonucleotide therapeutics in Japan for rare diseases
Future Rare Diseases, 2022 Inherited gene mutations, insertions, deletions of single genes cause most of the rare diseases. Oligonucleotide therapeutics represent one of the most flexible platforms for developing drugs for rare diseases.
Junetsu Igarashi +2 more
semanticscholar +1 more source
The Transition to Adulthood for Youth Living with Rare Diseases
Children, 2022 More children with rare diseases survive into adulthood. The transition period to adult healthcare presents many challenges for pediatric rare diseases.
Melanie R. Sandquist +3 more
semanticscholar +1 more source