Results 11 to 20 of about 8,762 (153)
Biochimica et Biophysica Acta (BBA) - Molecular Cell Research, 2006 ▪ Abstract In recent years, the number of proteins implicated in iron homeostasis has increased dramatically, and genetic causes have apparently been identified for the major disorders associated with tissue iron overload. These dramatic steps forward have transformed the way we look at iron-related disorders, particularly hemochromatosis.
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Hematology, 2005 Hereditary hemochromatosis (HH) is a disorder of iron metabolism characterized by a progressive tissue iron overload which leads to an irreversible organ damage if it is not treated timely. The recent developments in the field of molecular medicine have radically changed the physiopathology and the diagnosis of this disease.
Massimo, Franchini, Dino, Veneri
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Arthritis in hereditary hemochromatosis [PDF]
Arthritis & Rheumatism, 1987 AbstractSeven pedigrees with 45 members were evaluated for arthropathy associated with hereditary hemochromatosis (HC). Patients with symptomatic extraarticular disease were compared with asymptomatic patients who had evidence of HC on laboratory findings, and with normal subjects.
J L, Mathews, H J, Williams
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Frontiers in Pediatrics, 2022 In a newborn with very precocious liver failure, cholestatic jaundice, and low γ-glutamyl transpeptidase, progressive hepatosplenomegaly induced a progressively worsening respiratory distress, that was successfully treated with steroids.
Luca Filippi +7 more
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Hypogonadism in Hereditary Hemochromatosis [PDF]
The Journal of Clinical Endocrinology & Metabolism, 2005 Abstract Hypogonadism, usually hypogonadotropic in origin, is the most common nondiabetic endocrinopathy in hereditary hemochromatosis (HH). Early studies, usually evaluating small numbers of patients with advanced HH, report prevalence rates of 10–100%. The clinical presentation of HH has changed in recent years as a result of increased
J H, McDermott, C H, Walsh
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Complete heart block with ventricular tachycardia in a patient with hemochromatosis
Saudi Journal of Medicine and Medical Sciences, 2014 Hereditary hemochromatosis is an inherited condition of dysregulated iron absorption, and usually presents with clinical features of hepatic dysfunction. Cardiac involvement as the presenting manifestation of hereditary hemochromatosis is rare. We report
Sajeer Kalathingathodika +3 more
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Frontiers in Medicine, 2021 Hereditary hemochromatosis is a genetic iron overload disease related to a mutation within the HFE gene that controls the expression of hepcidin, the master regulator of systemic iron metabolism. The natural stable iron isotope composition in whole blood
Emmanuelle Albalat +5 more
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Prognostic Factors and Survival in Patients with Hereditary Hemochromatosis and Cirrhosis
Canadian Journal of Gastroenterology, 2006 OBJECTIVES: The survival of treated, noncirrhotic patients with hereditary hemochromatosis is similar to that of the general population. Less is known about the outcome of cirrhotic hereditary hemochromatosis patients.
Melanie D Beaton, Paul C Adams
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Bull's eye maculopathy associated with hereditary hemochromatosis
American Journal of Ophthalmology Case Reports, 2020 Purpose: To report a case of bull's eye maculopathy, a novel finding in a patient with iron overload secondary to hereditary hemochromatosis with a homozygous mutation of the HFE gene.
Kellyn N. Bellsmith +6 more
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Brazilian family with hyperferritinemia-cataract syndrome: case report
Einstein (São Paulo), 2022 Hereditary hyperferritinemia-cataract syndrome is a rare autosomal dominant disease caused by a genetic mutation in the iron responsive element in the 5’ untranslated region of the ferritin light chain gene. Hereditary hyperferritinemia-cataract syndrome
Aline Morgan Alvarenga +4 more
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