Ingrid E Scheffer,Sameer Zuberi,Heather C Mefford et al.
Ingrid E Scheffer et al.
Developmental and epileptic encephalopathies, the most severe group of epilepsies, are characterized by seizures and frequent epileptiform activity associated with developmental slowing or regression. Onset typically occurs in infancy or ch...
Tumour lysis syndrome [0.03%]
肿瘤溶解综合征
Scott C Howard,Anna Avagyan,Biruh Workeneh et al.
Scott C Howard et al.
Tumour lysis syndrome (TLS) represents a critical oncological emergency characterized by extensive tumour cell breakdown, leading to the swift release of intracellular contents into the systemic circulation, outpacing homeostatic mechanisms...
David A Warrell,José María Gutiérrez
David A Warrell
Jin-Long Wang
Jin-Long Wang
Carine E Hamo,Colette DeJong,Nick Hartshorne-Evans et al.
Carine E Hamo et al.
Heart failure with preserved ejection fraction (HFpEF) accounts for nearly half of all heart failure cases and has a prevalence that is expected to rise with the growing ageing population. HFpEF is associated with significant morbidity and ...
Cystic fibrosis [0.03%]
囊性纤维化病
Marcus A Mall,Pierre-Régis Burgel,Carlo Castellani et al.
Marcus A Mall et al.
Cystic fibrosis is a rare genetic disease caused by mutations in CFTR, the gene encoding cystic fibrosis transmembrane conductance regulator (CFTR). The discovery of CFTR in 1989 has enabled the unravelling of disease mechanisms and, more r...
von Willebrand disease [0.03%]
维尔德Landt-约赫恩森病
Omid Seidizadeh,Jeroen C J Eikenboom,Cécile V Denis et al.
Omid Seidizadeh et al.
von Willebrand disease (VWD) is the most common inherited bleeding disorder. The disorder is characterized by excessive mucocutaneous bleeding. The most common bleeding manifestations of this condition include nosebleeds, bruising, bleeding...
Dusan Hirjak,Jonathan P Rogers,Robert Christian Wolf et al.
Dusan Hirjak et al.
Catatonia is a neuropsychiatric disorder characterized by motor, affective and cognitive-behavioural signs, which lasts from hours to days. Intensive research over the past two decades has led to catatonia being recognized as an independent...
Biliary atresia [0.03%]
胆总管囊肿
Paul K H Tam,Rebecca G Wells,Clara S M Tang et al.
Paul K H Tam et al.
Biliary atresia (BA) is a progressive inflammatory fibrosclerosing disease of the biliary system and a major cause of neonatal cholestasis. It affects 1:5,000-20,000 live births, with the highest incidence in Asia. The pathogenesis is still...
Multiple myeloma [0.03%]
多发性骨髓瘤
Florent Malard,Paola Neri,Nizar J Bahlis et al.
Florent Malard et al.
Multiple myeloma (MM) is a haematological lymphoid malignancy involving tumoural plasma cells and is usually characterized by the presence of a monoclonal immunoglobulin protein. MM is the second most common haematological malignancy, with ...