Results 91 to 100 of about 3,006,865 (307)
Pediatric Blood &Cancer, EarlyView.ABSTRACT The medical burdens of sickle cell disease (SCD) and transfusion‐dependent β‐thalassemia (TDT) are chronic and cumulative, even in children. Yet the effects expand beyond medications and healthcare visits due to their impacts on school attendance, academic performance, and peer engagement.
Mary Ann Etling +2 more
wiley +1 more source
, 2015 Citrin deficiency: an infant incidentally detected by phenylketonuria screening with a novel mutation in SLC25A13 gene: We report the first Turkish patient with citrin deficiency detected incidentally by phenylketonuria screening.
Erkan, T. +5 more
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Complement genetics, deficiencies, and disease associations [PDF]
Protein & Cell, 2012 The complement system is a key component of innate immunity. More than 45 genes encoding the proteins of complement components or their isotypes and subunits, receptors, and regulators have been discovered. These genes are distributed throughout different chromosomes, with 19 genes comprising three significant complement gene clusters in the human ...
openaire +2 more sources
Prevalence of Genetic Disorders and GLUT1 Deficiency in a Ketogenic Diet Clinic
, 2017 Between July of 2012 and December of 2014, 39 patients were enrolled prospectively to investigate the prevalence of glucose transporter 1 (GLUT1) deficiency in a ketogenic diet clinic. None of them had GLUT1 deficiency.
Jaina Patel +9 more
core +1 more source
Therapeutic Apheresis and Dialysis, EarlyView.ABSTRACT Background Therapeutic apheresis (TA) is an established treatment modality for hematologic, neurologic, and immunologic disorders, yet access remains severely limited in sub‐Saharan Africa. Donor apheresis, including platelet apheresis collection from healthy donors, represents an important complementary modality supporting blood product ...
Nosa Bazuaye +33 more
wiley +1 more source
Genetic analyses reveal a role for vitamin D insufficiency in HCV-associated hepatocellular carcinoma development [PDF]
, 2013 Background: Vitamin D insufficiency has been associated with the occurrence of various types of cancer, but causal relationships remain elusive. We therefore aimed to determine the relationship between genetic determinants of vitamin D serum levels and ...
Jörg Bojunga +150 more
core +3 more sources
Riboflavin 1 Transporter Deficiency: Novel SLC52A1 Variants and Expansion of the Phenotypic Spectrum
, 2023 Riboflavin transporter 1 (RFVT1) deficiency is an ultrarare metabolic disorder due to autosomal dominant pathogenic variants in SLC52A1. The RFVT1 protein is mainly expressed in the placenta and intestine.
Athanasia Ziagaki +13 more
core +1 more source
Therapeutic Apheresis and Dialysis, EarlyView.ABSTRACT Background Establishing a comprehensive apheresis medicine program in a resource‐constrained setting presents significant structural, financial, and logistical challenges. Despite the growing clinical importance of apheresis services globally, published experience from sub‐Saharan Africa remains sparse.
Folasade Adelekan‐Popoola +4 more
wiley +1 more source
Economic Impact Analysis of Marker-Assisted Breeding in Rice [PDF]
The benefits of developing and releasing salinity-tolerant and phosphorous-deficiency-tolerant rice in Bangladesh, India, Indonesia and the Philippines were estimated for marker-assisted breeding as compared to conventional breeding using economic ...
Alwang, Jeffrey Roger +2 more
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FEBS Letters, EarlyView.Enteropathogenic E. coli (EPEC) infects the human intestinal epithelium, resulting in severe illness and diarrhoea. In this study, we compared the infection of cancer‐derived cell lines with human organoid‐derived models of the small intestine. We observed a delayed in attachment, inflammation and cell death on primary cells, indicating that host ...
Mastura Neyazi +5 more
wiley +1 more source