相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。Inherited iron overload disorders
Alberto Piperno et al.
TRANSLATIONAL GASTROENTEROLOGY AND HEPATOLOGY (2020)
Twenty Years of Ferroportin Disease: A Review or An Update of Published Clinical, Biochemical, Molecular, and Functional Features
L. Tom Vlasveld et al.
PHARMACEUTICALS (2019)
A severe hemojuvelin mutation leading to late onset of HFE2-hemochromatosis
Giulia Ravasi et al.
DIGESTIVE AND LIVER DISEASE (2018)
Haemochromatosis
Pierre Brissot et al.
NATURE REVIEWS DISEASE PRIMERS (2018)
Aceruloplasminemia: Waiting for an Efficient Therapy
Alberto Piperno et al.
FRONTIERS IN NEUROSCIENCE (2018)
The search for gene-gene interactions in genome-wide association studies: challenges in abundance of methods, practical considerations, and biological interpretation
Marylyn D. Ritchie et al.
ANNALS OF TRANSLATIONAL MEDICINE (2018)
Clinical evaluation of a hemochromatosis next-generation sequencing gene panel
Matthew B. Lanktree et al.
EUROPEAN JOURNAL OF HAEMATOLOGY (2017)
Ferroportin disease: pathogenesis, diagnosis and treatment
Antonello Pietrangelo
HAEMATOLOGICA (2017)
Ferroportin disease: pathogenesis, diagnosis and treatment
Antonello Pietrangelo
HAEMATOLOGICA (2017)
Identification of new BMP6 pro-peptide mutations in patients with iron overload
Chiara Piubelli et al.
AMERICAN JOURNAL OF HEMATOLOGY (2017)
Identification of novel mutations in hemochromatosis genes by targeted next generation sequencing in Italian patients with unexplained iron overload
Sadaf Badar et al.
AMERICAN JOURNAL OF HEMATOLOGY (2016)
Next-generation sequencing of hereditary hemochromatosis-related genes: Novel likely pathogenic variants found in the Portuguese population
Ricardo Faria et al.
BLOOD CELLS MOLECULES AND DISEASES (2016)
Transferrin Receptor 2 mutations in patients with juvenile hemochromatosis phenotype
Giulia Ravasi et al.
AMERICAN JOURNAL OF HEMATOLOGY (2015)
Next-generation sequencing: Application of a novel platform to analyze atypical iron disorders
Cameron J. McDonald et al.
JOURNAL OF HEPATOLOGY (2015)
Simultaneous liver iron and fat measures by magnetic resonance imaging in patients with hyperferritinemia
Stefania Galimberti et al.
SCANDINAVIAN JOURNAL OF GASTROENTEROLOGY (2015)
Two middle-age-onset hemochromatosis patients with heterozygous mutations in the hemojuvelin gene in a Chinese family
Shufeng Li et al.
INTERNATIONAL JOURNAL OF HEMATOLOGY (2014)
Inherited disorders of iron metabolism
Clara Camaschella et al.
CURRENT OPINION IN PEDIATRICS (2011)
Genetic and metabolic factors are associated with increased hepatic iron stores in a selected population of p.Cys282Tyr heterozygotes
R. Mariani et al.
BLOOD CELLS MOLECULES AND DISEASES (2010)
Ferroportin disease: A systematic meta-analysis of clinical and molecular findings
Roman Mayr et al.
JOURNAL OF HEPATOLOGY (2010)
A new missense mutation in the L ferritin coding sequence associated with elevated levels of glycosylated ferritin in serum and absence of iron overload
Caroline Kannengiesser et al.
HAEMATOLOGICA-THE HEMATOLOGY JOURNAL (2009)
Towards explaining unexplained hyperferritinemia
Clara Camaschella et al.
HAEMATOLOGICA-THE HEMATOLOGY JOURNAL (2009)
The evaluation of hyperferritinemia: An updated strategy based on advances in detecting genetic abnormalities
P Aguilar-Martinez et al.
AMERICAN JOURNAL OF GASTROENTEROLOGY (2005)
Hemochromatosis with mutation of the ferroportin 1 (IREG1) gene
WD Liu et al.
INTERNAL MEDICINE (2005)
Digenic inheritance of mutations in HAMP and HFE results in different types of haemochromatosis
AT Merryweather-Clarke et al.
HUMAN MOLECULAR GENETICS (2003)
The role of the iron responsive element in the control of ferroportin1/IREG1/MTP1 gene expression
A Lymboussaki et al.
JOURNAL OF HEPATOLOGY (2003)
Mutation analysis of transferrin-receptor 2 in patients with atypical hemochromatosis
WK Hofmann et al.
BLOOD (2002)
Clinical, biochemical and molecular findings in a series of families with hereditary hyperferritinaemia-cataract syndrome
D Girelli et al.
BRITISH JOURNAL OF HAEMATOLOGY (2001)