PURPOSE: To determine if and at what gestational age prenatal ultrasonography (US) enables distinction between homozygous, heterozygous, and unaffected fetuses when both parents have heterozygous acho...
Homozygous protein C deficiency affects approximately 1/400,000 to 1/1,000,000 live births. Homozygous protein C deficiency is associated with catastrophic and fatal purpura fulminans-like or thrombot...
We report a case of neonatal allo-immune thrombocytopenia due to fetomaternal human platelet antigen (HPA)-1 incompatibility. Anit-HPA-1b antibodies were detectable in maternal serum. Repeated treatme...
An Asian Indian child presented the severe transfusion dependent form of beta-thalassemia major. Sequencing data and gene mapping analysis revealed the concomitant presence of homozygous alpha-thal-2 ...
Natural history of the disease in 4 unrelated Polish children with homozygous familial hypercholesterolemia (FH) is described. Their phenotypic homozygosity was established by identification of known ...