罕少疾病杂志2) rare and uncommon diseases 罕少疾病 1. Significance of studying the rare and uncommon diseases from the finding and research advances of acquired immunodeficiency syndrome(AIDS); 从艾滋病的发现和研究进展看罕少疾病研究的意义3) rare abdominal diseases 腹部罕见疾病...
Brett J. Bordini, MD, Medical College of Wisconsin, USA Aims and scope Orphanet Journal of Rare Diseases is an open access, peer-reviewed journal that encompasses all aspects of rare diseases and orphan drugs. The journal publishes high-quality reviews on specific rare diseases. In addition, th...
Encompassing all aspects of rare diseases and orphan drugs, Orphanet Journal of Rare Diseases features high quality reviews and original articles in ...
Encompassing all aspects of rare diseases and orphan drugs, Orphanet Journal of Rare Diseases features high quality reviews and original articles in ...
If esophageal papilloma (EP) is a rare condition, esophageal papillomatosis (EPS) is a distinct rarity. To date, only 53 well documented cases have been described in English literature. However, the number of reports on EPS significantly increased to ove
Hypophosphatasia is a rare inherited disorder characterized by defective bone and teeth mineralization, and deficiency of serum and bone alkaline phosphatase activity. The prevalence of severe forms of the disease has been estimated at 1/100 000. The symptoms are highly variable in their clinical expr...
children with the three identified conditions, as well as every organization listed on the National Organization of Rare Diseases (NORD) website. Recruitment in this phase also included posting the flyer on parent Facebook groups for children with mental health, common medical, and rare disease ...
Orphanet Journal of Rare Diseases volume 7, Article number: 54 (2012) Cite this article 38k Accesses 185 Citations 82 Altmetric Metrics details Abstract Definition of the disease AL amyloidosis results from extra-cellular deposition of fibril-forming monoclonal immunoglobulin (Ig) light chains (LC) ...
Enzyme replacement therapy will be certainly the most promising challenge of the next few years.doi:10.1186/1750-1172-4-20Etienne MornetBioMed CentralMatthew R, Stephanie P, Jacques G, Christian S: Craniopharyngioma. Orphanet Journal of rare diseases. 2: 18,2007.L. Segalat, Orphanet Journal of...
Congenital long QT syndrome (LQTS) is a hereditary cardiac disease characterized by a prolongation of the QT interval at basal ECG and by a high risk of life-threatening arrhythmias. Disease prevalence is estimated at close to 1 in 2,500 live births. The