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Beta-thalassemia Intermedia: An Overview
Pediatric Annals, 2008CME Educational Objectives 1. Review the metabolic pathways critical to maintaining red cell membrane integrity. 2. Produce a classification scheme
F. El Rassi +3 more
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2020
Gene therapy with autologous HSCs modified to express ß-globin represents a potential therapeutic option for transfusion-dependent beta-thalassemia. In order to investigate the safety and efficacy of lentiviral vector based gene therapy, we analyzed the viral integration profile in transduced HSCs using LAM-PCR and NGS method.
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Gene therapy with autologous HSCs modified to express ß-globin represents a potential therapeutic option for transfusion-dependent beta-thalassemia. In order to investigate the safety and efficacy of lentiviral vector based gene therapy, we analyzed the viral integration profile in transduced HSCs using LAM-PCR and NGS method.
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Hypertriglyceridemia in homozygous beta thalassemia
The Journal of Pediatrics, 1975A case of hypertriglyceridemia in association with homozygous beta-thalassemia in an 11-month-old female infant is reported. The hypertriglyceridemia proved to be secondary, as it was indicated by clinical features as well as laboratory findings. Attention is called to a possible alteration of lipid metabolism in association with thalassemia major.
M R, Ameri +3 more
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C3 Polymorphism in Beta-Thalassemia
Acta Haematologica, 1984The distribution of phenotypes and gene frequencies of the third component of complement (C3) were studied in 106 beta-thalassemic patients and in 112 carriers of the beta-thalassemia trait. A statistically significant association was found between the C3F gene and homozygous beta-thalassemia.
A, Germenis +4 more
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Ophthalmic Evaluation in Beta-Thalassemia
The Indian Journal of Pediatrics, 2017To determine the association of ocular manifestations in beta-thalassemia with the patient's age, blood transfusion requirements, average serum ferritin and dose and duration of iron chelation therapy.Sixty multi-transfused beta thalassemia patients of 12 to 18 y of age on chelation therapy were included in this cross-sectional analysis. Structural and
Rashid H, Merchant +3 more
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Birth defects original article series, 1988
In summary, the beta-thalassemias are due to defects in or around the structural beta-globin gene. In some Indian patients, there is deletion of sequence at the 3' end of the beta-globin gene. Most commonly, single nucleotide mutations cause beta(+)- and beta(0) -thalassemia. More than 30 such mutations have been identified.
A, Bank, C, Dobkin
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In summary, the beta-thalassemias are due to defects in or around the structural beta-globin gene. In some Indian patients, there is deletion of sequence at the 3' end of the beta-globin gene. Most commonly, single nucleotide mutations cause beta(+)- and beta(0) -thalassemia. More than 30 such mutations have been identified.
A, Bank, C, Dobkin
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Hematology/Oncology Clinics of North America, 2019
Eugene Khandros, Janet L. Kwiatkowski
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Eugene Khandros, Janet L. Kwiatkowski
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