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Toplam kayıt 36, listelenen: 21-30
Nbeal2 Is Mutated In Gray Platelet Syndrome And Is Required For Biogenesis Of Platelet Alpha-Granules
(2011)
Gray Platelet Syndrome (GPS) is an autosomal recessive bleeding disorder with large platelets that lack α-granules. We found that mutations of NBEAL2 (neurobeachin-like 2), encoding a BEACH/ARM/WD40 domain protein, cause ...
Molecular Diagnosis Of Shwachman-Diamond Syndrome Presenting With Pancytopenia At An Early Age: The First Report From Turkey
(Springer India, 2013)
A three-month-old boy presented with growth failure, skeletal abnormalities, otitis media and pancytopenia. Exocrine pancreatic insufficiency was confirmed by low levels of fecal elastase. He was diagnosed as Shwachman-Diamond ...
Autoimmune Hemolytic Anemia and Giant Cell Hepatitis: Report of Three Infants
(Galenos Yayıncılık, 2010)
Giant cell hepatitis associated with direct Coombs' test-positive hemolytic anemia is a rare condition of childhood and the pathogenesis remains unclear. An autoimmune activation and loss of self-tolerance in these patients ...
Hypereosinophilic Syndrome: Hacettepe Experience.
(Lippincott Williams & Wilkins, 2016)
The aim was to evaluate baseline demographic, clinical,
and laboratory characteristics, treatment modalities, and outcome
of children with idiopathic hypereosinophilic syndrome (HES)
followed up in our center. Children ...