Serum ferritin level is one of the most commonly requested investigations in both primary
and secondary care. Whilst low serum ferritin levels invariably indicate reduced iron stores, …

Clinical vignette A 21-year old woman was admitted to hospital with a two-week history of
painless jaundice, fatigue and anorexia having previously been fit and well. One month prior to …

BACKGROUND & AIMS: Classical ferroportin disease is characterized by hyperferritinemia,
normal transferrin saturation, and iron overload in macrophages. A non-classical form is …

Diagnosis of drug-induced liver injury (DILI) and its distinction from other liver diseases are
significant challenges in drug development and clinical practice. Here, we identify, confirm, …

Genetic haemochromatosis (GH) is one of the most frequentgenetic disorders found in
Northern Europeans. GH is a condition caused by continued absorption of iron from the upper …

Juvenile haemochromatosis is a severe inherited iron-loading disorder that can present in
children and adolescents. Typical manifestations include heart failure, endocrine failure (…

Background & Aims Patients with ferroportin iron overload due to loss-of-function mutations
in SLC40A1 have macrophage iron overload, hyperferritinemia, and normal transferrin …

Objectives Conventional imaging techniques are insensitive to liver fibrosis. This study
assesses the diagnostic accuracy of MR elastography (MRE) stiffness values and the ratio of …

Rationale: α 1 -Antitrypsin deficiency is one of the most common heritable human diseases,
predisposing to liver and lung injury. Significant heterogeneity in phenotypic expression is …

Common variable immunodeficiency (CVID) is the most common form of primary immunodeficiency
characterized by antibody deficiency, recurrent bacterial infections, and autoimmunity…