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The Clinical and Laboratory Evaluation of Familial Hemophagocytic Lymphohistiocytosis and the Importance of Hepatic and Spinal Cord Involvement: A Single Center Experience
(2018)
Familial hemophagocytic lymphohistiocytosis is an autosomal recessive, life-threatening condition characterized by defective immune response. A retrospective analysis was performed on 57 patients diagnosed with familial ...
Mechanism For Survival Of Homozygous Nonsense Mutations In The Tumor Suppressor Gene Brca1
(Natl Acad Sciences, 2018)
BRCA1 is essential for repair of DNA double-strand breaks by homologous recombination, and hence for survival. Complete loss of its function is lethal during early embryonic development. Patients who are compound heterozygous ...
Spinal Cord Involvement In A Child With Familial Hemophagocytic Lymphohistiocytosis
(2012)
The involvement of the central nervous system (CNS) in familial hemophagocytic lymphohistiocytosis (FHL) has known to be limited to the brain, brain stem, and cerebellum. Herein, we report an 11-year-old boy who presented ...
Lymphocytic Vacuolization in Lymphocytic Vacuolization in Sialic Acid Storage Disease Acid Storage Disease
(Wiley, 2008)
Lymphocytic vacuolization in sialic acid storage disease
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 ...