Results 21 to 30 of about 192,458 (292)
Severe osteoporosis as atypical presentation of hereditary hemochromatosis [PDF]
Clinical Case Reports, 2022 Besides important metabolic repercussions, iron overload is reported to be associated with deleterious effects on articulations and bones. We present the case of a male patient diagnosed with severe osteoporosis and vertebral fracture, in whom the ...
Georgiana Cristina Taujan +5 more
doaj +2 more sources
Study of total stimulated saliva flow and hyperpigmentation in the oral mucosa of patients diagnosed with hereditary hemochromatosis. Series of 25 cases. [PDF]
, 2012 Objective: To study lesions in the oral cavity of patients with hereditary hemochromatosis and determine their association with iron overload. Study Design: We took a clinical history, examined the pigmentation of the oral mucosa, and measured total ...
MA. Sanchez-Pablo +2 more
openalex +2 more sources
Type 4B hereditary hemochromatosis associated with a novel mutation in the SLC40A1 gene
Medicine, 2017 Rationale: Hereditary hemochromatosis can be divided into HFE- and non-HFE-related based on genetic mutations in different genes. HFE-related hemochromatosis is the most common inherited genetic disease in European populations but rare in Asia-pacific ...
Wei Zhang +3 more
openalex +2 more sources
Internal medicine, 2016 Hereditary hemochromatosis (HH) is an inherited disorder usually seen in Northern Europeans, which results in iron overload syndrome. A few cases have also been reported in Japan.
Noriyuki Yamakawa +12 more
openalex +2 more sources
Evaluation of genome-wide loci of iron metabolism in hereditary hemochromatosis identifies PCSK7 as a host risk factor of liver cirrhosis. [PDF]
Human Molecular Genetics, 2014 Genome-wide association studies (GWAS) have revealed genetic determinants of iron metabolism, but correlation of these with clinical phenotypes is pending.
F. Stickel +36 more
semanticscholar +3 more sources
Incorrect diagnosis of hereditary hemochromatosis [PDF]
American Journal of Hematology, 2000 Oksana Mirochnik +4 more
openalex +4 more sources
The contribution of diet and genotype to iron status in women:a classical twin study [PDF]
, 2013 This is the first published report examining the combined effect of diet and genotype on body iron content using a classical twin study design. The aim of this study was to determine the relative contribution of genetic and environmental factors in ...
Alexander J. Macgregor +27 more
core +14 more sources
Iron Metabolism in the Disorders of Heme Biosynthesis
Metabolites, 2022 Given its remarkable property to easily switch between different oxidative states, iron is essential in countless cellular functions which involve redox reactions. At the same time, uncontrolled interactions between iron and its surrounding milieu may be
Andrea Ricci +5 more
doaj +1 more source
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.
Scott A Fink, Raymond T Chung
+8 more sources
Diagnostics, 2021 Hereditary hemochromatosis (HH) is a genetic disease leading to excessive iron absorption, its accumulation, and oxidative stress induction causing different organ damage, including the heart.
L. Daniłowicz-Szymanowicz +5 more
semanticscholar +1 more source