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Isolated Non-Progressive Hemidystonia in a Patient Homozygous for H63D Variant of Hereditary Hemochromatosis: A Case Report and Systematic Literature Review of Movement Disorders in Hereditary Hemochromatosis. [PDF]
Diagnostics (Basel)Kalampokini S +3 more
europepmc +1 more source
Editorial: Differential diagnosis of erythrocytosis and analysis of their clinical utility. [PDF]
Front Med (Lausanne)Lekovic D, Sobas M, Lucijanic M.
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Persistent Beetroot Colored Urine in a Three-Year-Old Child: A Case Report. [PDF]
Clin Case RepHarper P, Törnhage CJ, Sardh E.
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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
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
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
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