Results 101 to 110 of about 192,458 (292)
EMQN best practice guidelines for the molecular genetic diagnosis of hereditary hemochromatosis (HH)
European Journal of Human Genetics, 2015 Molecular genetic testing for hereditary hemochromatosis (HH) is recognized as a reference test to confirm the diagnosis of suspected HH or to predict its risk.
G. Porto +8 more
semanticscholar +1 more source
Gaucher disease, state of the art and perspectives
Journal of Internal Medicine, EarlyView.Abstract Knowledge about Gaucher disease (GD), considered a model for rare diseases, has considerably increased since its discovery. The pathophysiology of this lysosomal disorder is better known, and specific therapies that can control many aspects of the disease have been developed, particularly for the most common form, Type 1 GD.
Fabrice Camou, Marc G. Berger
wiley +1 more source
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
doaj
In-silico Molecular Analysis of Mutated Sequences of HFE1, HFE2, TFR2 and SLC40A1 causing Hemochromatosis Disease [PDF]
International Journal Bioautomation, 2011 Hemochromatosis is a disorder in iron metabolism that is characterized by excess iron absorption. There are two forms of hemochromatosis: primary hemochromatosis is caused by a problem with your genes.
Bilal Hussain +4 more
doaj
A Late Presentation of a Fatal Disease: Juvenile Hemochromatosis
Case Reports in Medicine, 2013 Juvenile hemochromatosis is a rare and severe form of hereditary hemochromatosis. We report the case of a 39-year-old female who presented with heart failure and cirrhosis from previously unrecognized juvenile hemochromatosis.
Cynthia Cherfane +3 more
doaj +1 more source
Vox Sanguinis, EarlyView.Abstract Background and Objectives Red blood cell (RBC) concentrates are stored at 1–6°C for up to 42 days, but storage lesions can lead to wastage. Pooled neocytes may extend RBC shelf‐life, benefiting patients who require frequent transfusions. This study aimed to improve the longevity of stored RBCs by isolating neocytes and comparing the rate of ...
Adriaan Meyer +2 more
wiley +1 more source
Egyptian Journal of Medical Human Genetics, 2018 Background: Hereditary hemochromatosis is a disease associated with iron deposition which is caused by the mutations in “hereditary Fe (iron)” (HFE) gene. Case: The 16-year-old male patient was diagnosed with hereditary hemochromatosis after c.1007−47G>A
Vesile Deniz Çelik +4 more
doaj
CA: A Cancer Journal for Clinicians, EarlyView.Abstract Hepatocellular carcinoma (HCC) is the sixth most common malignancy and the third leading cause of cancer‐related death worldwide. Contemporary advances in systemic and locoregional therapies have led to changes in peer‐reviewed guidelines regarding systemic therapy as well as the possibility of downstaging disease that may enable some patients
Dimitrios Moris +12 more
wiley +1 more source
HLA and hemochromatosis disease association in São Miguel Island [PDF]
, 2008 Mestrado em Biologia Molecular e CelularA hemocromatose hereditária uma doença autossómica recessiva do metabolismo do ferro, geralmente associada à mutação C282Y no gene HFE. Presume-se que a origem desta mutação tenha ocorrido por acaso no haplótipo
Gomes, Cidália Maria Teixeira
core +1 more source