Results 141 to 150 of about 49,325 (314)

Lafora Disease Masquerading as Hepatic Dysfunction [PDF]

open access: yes, 2018
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

Multi‐Center, Multi‐Vendor Validation of Simultaneous MRI‐Based Proton Density Fat Fraction and R2* Mapping Using a Combined Proton Density Fat Fraction‐R2* Phantom

open access: yesJournal of Magnetic Resonance Imaging, Volume 62, Issue 3, Page 800-811, September 2025.
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

Asymptomatic hemochromatosis case with HFE c.1007−47G>A, c.340+4T>C heterozygous mutations and alpha globin −3.7 kb deletion

open access: yesEgyptian Journal of Medical Human Genetics, 2018
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]

open access: bronze, 1942
William M. Balfour   +4 more
openalex   +1 more source

A genetic epidemiologic study of hemochromatosis [PDF]

open access: yes, 2002
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]

open access: bronze, 1948
Steven O. Schwartz, Sunoll A. Blumenthal
openalex   +1 more source

Fifteen Years of PNPLA3: Transforming Hepatology Through Human Genetics

open access: yesLiver International, Volume 45, Issue 9, September 2025.
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

Case report: A rare case of hereditary hemochromatosis caused by a mutation in the HAMP gene in Fuyang, China

open access: yesFrontiers in Medicine
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

Iron‐dependent lysosomal LDL oxidation induces the expression of scavenger receptor A in human THP‐1 monocytes

open access: yesFEBS Open Bio, Volume 15, Issue 8, Page 1246-1266, August 2025.
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

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