A severe hemojuvelin mutation leading to late onset of HFE2 -hemochromatosis
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چکیده
منابع مشابه
A New Mutation Causing Severe Infantile-Onset Pompe Disease Responsive to Enzyme Replacement Therapy
Pompe disease (PD), also known as “glycogen storage disease type II (OMIM # 232300)” is a rare autosomal recessive disorder characterized by progressive glycogen accumulation in cellular lysosomes. It ultimately leads to cellular damage. Infantile-onset Pompe disease (IOPD) is the most severe type of this disease and is characterized by severe hypertrophic cardiomyopathy and generalized hypoton...
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A MONG patients wlho from infancy have had severe anemia, refractory to therapy and usually reqtiiring transfuisions, xve have observed the development of one or 1)0th of txxo cardiac complicationis uinuisuial for anicmia alone." One, acute pericarditis, appeared benign but often recutrred, xxhereas the seconid, congestive lheart failuire and arrhythmias, led to death xithin a few montlhs to a ...
متن کاملSpectrum of hemojuvelin gene mutations in 1q-linked juvenile hemochromatosis.
Juvenile or type 2 hemochromatosis (JH) is transmitted as a recessive trait that leads to severe iron overload and organ damage typically before age 30 years. Linkage to a locus on chromosome 1q has been found in most patients with JH. The recently identified causal gene encodes hemojuvelin, a protein with a proposed crucial role in iron metabolism. A second, rare type of JH, with clinical expr...
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ژورنال
عنوان ژورنال: Digestive and Liver Disease
سال: 2018
ISSN: 1590-8658
DOI: 10.1016/j.dld.2018.04.018