Results 141 to 150 of about 28,106 (200)

Clinical Exome Sequencing in Unexplained Hyperferritinemia Reveals Digenic and Oligogenic Inheritance Beyond Iron Homeostasis. [PDF]

open access: yesLiver Int
Morel P   +11 more
europepmc   +1 more source

Genetics of Hemochromatosis

Annual Review of Medicine, 1999
Hereditary hemochromatosis (HHC) is a common autosomal recessive disorder of iron metabolism that results in progressive iron overload and can be fatal if untreated. The hemochromatosis gene (HFE) was identified by positional cloning in 1996. Two missense mutations have been described in HFE.
Grant A Ramm   +2 more
exaly   +6 more sources

Hemochromatosis

Medical Clinics of North America, 1989
This article discusses the pathophysiology and clinical manifestations of idiopathic and secondary hemochromatosis. Pedigree studies documenting the hereditary evidence for hemochromatosis are discussed. Current theories for the molecular mechanisms that result in iron overload are presented.
H K, Holland, J L, Spivak
openaire   +2 more sources

Hemochromatosis

Clinics in Liver Disease, 2004
Hemochromatosis is a common genetic disease with a wide range of clinical expression: from no symptoms to cirrhosis of the liver. The discovery of the gene has led to a genetic blood test useful in the diagnosis of hemochromatosis. Treatment by phlebotomy is simple and efficient and can prevent the development of cirrhosis, leading to a normal life ...
openaire   +2 more sources

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