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HFE gene knockout produces mouse model of hereditary hemochromatosis.
  • X. Zhou, S. Tomatsu, +12 authors W. Sly
  • Medicine, Biology
  • Proceedings of the National Academy of Sciences…
  • 3 March 1998
Hereditary hemochromatosis (HH) is a common autosomal recessive disease characterized by increased iron absorption and progressive iron storage that results in damage to major organs in the body.Expand
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International Morquio A Registry: Clinical manifestation and natural course of Morquio A disease
SummaryMucopolysaccharidosis IVA (MPS IVA; Morquio A disease) is a lysosomal storage disorder caused by deficiency of N-acetylgalactosamine-6-sulfate sulfatase. The natural history of this disease isExpand
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Mutation and polymorphism spectrum of the GALNS gene in mucopolysaccharidosis IVA (Morquio A)
Mucopolysaccharidosis IVA (MPS IVA; Morquio A disease) is an autosomal‐recessive disorder caused by a deficiency of lysosomal N‐acetylgalactosamine‐6‐sulfate sulfatase (GALNS; E.C.3.1.6.4). GALNS isExpand
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Association of the transferrin receptor in human placenta with HFE, the protein defective in hereditary hemochromatosis.
Hereditary hemochromatosis (HH) is a common autosomal recessive disease associated with loss of regulation of dietary iron absorption and excessive iron deposition in major organs of the body.Expand
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Mucopolysaccharidosis type IVA (Morquio A disease): clinical review and current treatment.
Mucopolysaccharidosis IVA (MPS IVA), also known as Morquio A, is a rare, autosomal recessive disorder caused by a deficiency of the lysosomal enzyme N-acetylgalatosamine-6-sulfate-sulfatase (GALNS),Expand
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Hereditary hemochromatosis: effects of C282Y and H63D mutations on association with beta2-microglobulin, intracellular processing, and cell surface expression of the HFE protein in COS-7 cells.
Hereditary hemochromatosis (HH) is the most common autosomal recessive disorder known in humans. A candidate gene for HH called HFE has recently been cloned that encodes a novel member of the majorExpand
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Transferrin receptor 2: continued expression in mouse liver in the face of iron overload and in hereditary hemochromatosis.
Hereditary hemochromatosis (HH) is a common autosomal recessive disorder characterized by excess absorption of dietary iron and progressive iron deposition in several tissues, particularly liver.Expand
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Association of HFE protein with transferrin receptor in crypt enterocytes of human duodenum.
In hereditary hemochromatosis (HH), intestinal absorption of dietary iron is increased, leading to excessive iron accumulation in tissues and resultant organ damage. The HFE protein, which isExpand
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Growth charts for patients affected with Morquio A disease
Children with Morquio A disease grow poorly and become physically handicapped because of systemic bone disease. The purpose of this study was to describe observed growth patterns and theirExpand
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Mechanism of increased iron absorption in murine model of hereditary hemochromatosis: increased duodenal expression of the iron transporter DMT1.
Hereditary hemochromatosis (HH) is a common autosomal recessive disorder characterized by tissue iron deposition secondary to excessive dietary iron absorption. We recently reported that HFE, theExpand
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