Orphanet journal of rare diseases

Orphanet J Rare Dis · ISSN (e) 1750-1172 · 3 papers in corpus
review 2023
Monozygotic twin cases of endometriosis with Glanzmann thrombasthenia: a case report and review of literature
doi:10.1186/s13023-023-02694-6 ·PMID:37072860

BACKGROUND: Glanzmann thrombasthenia (GT) is a rare bleeding disorder with a high prevalence in communities where consanguineous marriages are mainstream. Endometriosis is a chronic inflammatory disease, and its risk increases in women with…

other 2022
Current clinical practice for thromboprophylaxis management in patients with Cushing's syndrome across reference centers of the European Reference Network on Rare Endocrine Conditions (Endo-ERN)
doi:10.1186/s13023-022-02320-x ·PMID:35505430

BACKGROUND: Cushing's syndrome (CS) is associated with an hypercoagulable state and an increased risk of venous thromboembolism (VTE). Evidence-based guidelines on thromboprophylaxis strategies in patients with CS are currently lacking. We …

article 2016
Gynecologic symptoms and the influence on reproductive life in 386 women with hypermobility type ehlers-danlos syndrome: a cohort study
doi:10.1186/s13023-016-0511-2 ·PMID:27619482

BACKGROUND: Hypermobile Ehlers-Danlos syndrome (hEDS), is probably the most common disease among heritable connective tissue disorders. It affects women more than men and causes symptoms in multiple organs. It is associated with chronic pai…