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Documents ADDISON'S DISEASE

200 ADDISON'S DISEASE By G. A. SMART, M.D., B.Sc., F.R.C.P. Reader in Medicine, University of Durham Until very recently the metabolic disturbances underlying the syndrome

Documents Diagnosis and therapy of genetic haemochromatosis (review and 2017 update)

Diagnosis and therapy of genetic haemochromatosis (review and 2017 update)Diagnosis and therapy of genetic haemochromatosis (review and 2017 update) Edward J. Fitzsimons,1

Documents Haemochromatosis Diagnosis and Management

Haemochromatosis Diagnosis and Management CONTENTS PAGE INTRODUCTION 3 DEFINITION 3 PREVALENCE 4 SYMPTOMS AND SIGNS 6 DIAGNOSIS 6 MANAGEMENT 6 FURTHER READING 8 HAEMOCHROMATOSIS

Documents The Natural History of Ferroportin Disease – First Results of the International, Multicenter.....

-LBP_32_ILC2019caused by heterozygous mutations in SLC40A1. Both traits are characterized by high serum ferritin and hepatic iron overload. Transferrin saturation and splenic/macrophage

Documents EMQN best practice guidelines for the molecular genetic diagnosis of hereditary hemochromatosis (HH)

EMQN best practice guidelines for the molecular genetic diagnosis of hereditary hemochromatosis (HH)POLICY EMQN best practice guidelines for the molecular genetic diagnosis

Documents SLC40A1 gene

SLC40A1 geneSLC40A1 gene solute carrier family 40 member 1 Normal Function The SLC40A1 gene provides instructions for making a protein called ferroportin. This protein is

Documents Oligomerization of Ferroportin and the Mechanism of Autosomal Dominance in Ferroportin Disease

Oligomerization of Ferroportin and the Mechanism of Autosomal Dominance in Ferroportin Disease John P Bonamer1, T Alex Ruwe1, Bo Qiao2, Claire F Voegele1, Corbin Azucenas1,

Documents Hereditary Haemochromatosis

Endoscopy Capacity Improvement Actions 2015Diagnosis, Treatment and Management. Version Number 1 Document Status DRAFT Approved By Clinical Strategy and Programmes, Health

Documents Molecular model of the ferroportin intracellular gate and implications for the human iron transport....

Molecular model of the ferroportin intracellular gate and implications for the human iron transport cycle and hemochromatosis type 4ASubmitted on 30 Nov 2020 HAL is a multi-disciplinary

Documents Investigation of a Raised Ferritin

RM PartnersDefined as >300mcg/l male & >200mcg/l female Raised serum ferritin levels can be due to a number of aetiologies including: • Iron overload- Hereditary