Results 141 to 150 of about 49,325 (314)
Lafora Disease Masquerading as Hepatic Dysfunction [PDF]
Lafora disease is fatal intractable progressive myoclonic epilepsy. It is frequently characterized by epileptic seizures, difficulty walking, muscle spasms, and dementia in late childhood or adolescence.
Abdullah, Hafez Mohammad A.+6 more
core +1 more source
ABSTRACT Background Fat and iron deposition confound measurements of R2* and proton density fat fraction (PDFF), respectively, yet their combined impact on reproducibility is poorly understood. Purpose To evaluate the multi‐center, multi‐vendor reproducibility of PDFF and R2* quantification using a PDFF‐R2* phantom. Study Type Prospective multi‐center,
Jitka Starekova+11 more
wiley +1 more source
Background: Hereditary hemochromatosis is a disease associated with iron deposition which is caused by the mutations in “hereditary Fe (iron)” (HFE) gene. Case: The 16-year-old male patient was diagnosed with hereditary hemochromatosis after c.1007−47G>A
Vesile Deniz Çelik+4 more
doaj
RADIOACTIVE IRON ABSORPTION IN CLINICAL CONDITIONS: NORMAL, PREGNANCY, ANEMIA, AND HEMOCHROMATOSIS [PDF]
William M. Balfour+4 more
openalex +1 more source
A genetic epidemiologic study of hemochromatosis [PDF]
The goal of genetic epidemiology is to study the genetic etiology of diseases. There were t\vo main aims for the present thesis. The first aim was to study the effects of the hemochromatosis gene (HFE) mutations on serum iron levels and disease ...
Njajou, O.T. (Omer)
core +2 more sources
EXOGENOUS HEMOCHROMATOSIS RESULTING FROM BLOOD TRANSFUSIONS [PDF]
Steven O. Schwartz, Sunoll A. Blumenthal
openalex +1 more source
Fifteen Years of PNPLA3: Transforming Hepatology Through Human Genetics
ABSTRACT Steatotic liver disease (SLD), caused by excess lipid accumulation in hepatocytes, is now a leading global liver condition triggered by metabolic dysfunction, alcohol, toxins and heritable factors. The main genetic determinant is the common PNPLA3 p.I148M variant, which explains a substantial portion of SLD interindividual and interethnic ...
Stefano Romeo, Luca Valenti
wiley +1 more source
Hemochromatosis, also known as siderosis, is a disease caused by excessive iron deposition in human organs and tissues, resulting from iron metabolism disorders.
Jinling Wang+9 more
doaj +1 more source
The Iron Content of Jejunal Mucosa Obtained by Crosby’s Biopsy in Hemochromatosis and Hemosiderosis [PDF]
G Astaldi, G Meardi, T. LISINO
openalex +1 more source
In human monocytic cells THP‐1, a limited uptake of native—not oxidized—LDL/VLDL induced expression of scavenger receptor A and cellular adhesion. Induction was inhibited by lysosomotropic (WR‐1065) and lipophilic (BHT) antioxidants and by siRNAs against ferritinophagy.
Martina Čierna+4 more
wiley +1 more source