Results 31 to 40 of about 143,066 (307)
, 2021 Long QT Syndrome (LQTS) is an autosomal dominant inherited cardiac disorder associated with life-threatening arrhythmias. In northern Sweden, a LQTS founder mutation (p.Y111C, KCNQ1 gene) was verified by genetic haplotype analysis and genealogical ...
Winbo, Annika +4 more
core +1 more source
Pregnancy in inherited hypokalemic salt-losing renal tubular disorder
, 2011 The management of inherited hypokalemia has improved and the issue of pregnancy has become ...
Bianchetti, Mario G +13 more
core +1 more source
Thalassemia and hemoglobinopathy prevalence in a community-based sample in Sylhet, Bangladesh
Orphanet Journal of Rare Diseases, 2023 Background Inherited blood disorders affect 7% of the population worldwide, with higher prevalences in countries in the “thalassemia belt,” which includes Bangladesh.
Amanda S. Wendt +5 more
doaj +1 more source
International Journal of Neonatal Screening, 2021 Sickle cell disease (SCD) is a severe non-malignant disorder of hemoglobin and is inherited in an autosomal-recessive manner [...]
Stephan Lobitz +7 more
doaj +1 more source
Inherited progressive cardiac conduction disorders. [PDF]
, 2015 PURPOSE OF REVIEW Progressive cardiac conduction disorder (PCCD) is an inherited cardiac disease that may present as a primary electrical disease or be associated with structural heart disease. In this brief review, we present recent clinical, genetic,
Baruteau, Alban-Elouen +2 more
core +1 more source
Pediatric Blood &Cancer, EarlyView.ABSTRACT Background PIK3CA‐related overgrowth spectrum (PROS) includes several rare overgrowth disorders resulting from somatic gain‐of‐function mutations in PIK3CA. Despite treatment advances, including the recent approval of alpelisib for PROS in the United States, literature detailing the patient experience with PROS is limited.
Vamsi Bollu +8 more
wiley +1 more source
The utility of flow cytometric platelet forward scatter as an alternative to mean platelet volume
Platelets, 2022 The use of mean platelet diameter (MPD) to classify inherited thrombocytopenia (IT) has been demonstrated in several studies. Alternatively, the mean platelet volume (MPV) may be used, but in macrothrombocytopenia this may not be available.
David Connor +12 more
doaj +1 more source
Inherited disorders of GABA metabolism
, 1993 Gamma-aminobutyric acid (GABA), a major inhibitory neurotransmitter in the mammalian central nervous system, is produced from glutamic acid in a reaction catalysed by glutamic acid decarboxylase.
J. Jaeken +5 more
core +1 more source
Pediatric Blood &Cancer, EarlyView.ABSTRACT Background 131I‐metaiodobenzylguanidine (131I‐MIBG) radiotherapy is a key treatment for relapsed and refractory (R/R) neuroblastoma (NB). Patients with R/R disease treated in the modern era are increasingly exposed to anti‐GD2 immunotherapy, which exerts selective pressure and may modify both tumor cell state and microenvironment.
Benjamin J. Lerman +7 more
wiley +1 more source
Bleeding risk of surgery and its prevention in patients with inherited platelet disorders
Haematologica, 2017 Excessive bleeding at surgery is a feared complication in patients with inherited platelet disorders. However, very few studies have evaluated the frequency of surgical bleeding in these hemorrhagic disorders.
Sara Orsini +35 more
doaj +1 more source