Eng K Gan,Lawrie W Powell,John K Olynyk
Eng K Gan
Advances in our knowledge of hereditary hemochromatosis (HH) over the past 150 years have revealed new insights into this common genetic disorder. Meticulous family and HLA association studies followed ultimately by cloning of the HFE gene ...
Jodie L Babitt,Herbert Y Lin
Jodie L Babitt
Hereditary hemochromatosis is a genetic disorder of iron overload. Over the past 15 years, significant advances have been made in understanding the molecular pathogenesis of this disorder. First, genetic studies linked this disorder to muta...
Ivana De Domenico,Diane McVey Ward,Jerry Kaplan
Ivana De Domenico
Systemic iron homeostasis is regulated by the interaction of the peptide hormone, hepcidin and the iron exporter, ferroportin. Mutations in FPN1, the gene that encodes ferroportin, result in iron-overload disease that shows dominant inherit...
Yves Deugnier,Bruno Turlin
Yves Deugnier
The growing availability of genetic tests for most inherited iron-overload conditions and our current ability to assess hepatic iron stores, and at a lesser extent, liver fibrosis by noninvasive methods have reduced the need for liver biops...
Wilson disease: pathogenesis and clinical considerations in diagnosis and treatment [0.03%]
威尔森病的发病机制及诊断与治疗中的临床问题
Richard Rosencrantz,Michael Schilsky
Richard Rosencrantz
Nearly a century after Dr. Samuel Alexander Kinnier Wilson composed his doctoral thesis on the pathologic findings of "lenticular degeneration" in the brain associated with cirrhosis of the liver we know that the underlying molecular basis ...
Melanie Johncilla,Kisha A Mitchell
Melanie Johncilla
Copper accumulation in the liver is associated with cellular and apoptotic injury. Wilson disease is the most well-characterized disorder of disordered copper metabolism. Other less-common disorders include Indian childhood cirrhosis, endem...
James Bennett,Si Houn Hahn
James Bennett
Wilson disease is an autosomal recessive disorder of copper transport characterized by toxic accumulation of copper in the liver, brain, and other organs. It is lethal if untreated, but effective treatment is available. The broad spectrum o...
Antonello Pietrangelo,Michael Schilsky
Antonello Pietrangelo
Adult polyglucosan body disease: a rare presentation with chronic liver disease and ground-glass hepatocellular inclusions [0.03%]
成人多糖体疾病：慢性肝病和肝细胞玻璃样变性的罕见表现形式
Cristina H Hajdu,Jay H Lefkowitch
Cristina H Hajdu
Liver involvement in genetic and metabolic disorders may result in intrahepatic accumulation of specific precursors or byproducts, which have distinctive features on light microscopy. The "polyglucosan disorders" are diseases in which polyg...
Brian D Juran,Konstantinos N Lazaridis
Brian D Juran
The field of genomics has entered a new era in which the ability to identify genetic variants that impact complex human traits and disease in an unbiased fashion using genome-wide approaches is widely accessible. To date, the workhorse of t...