Purpose Availability of clinical genomic sequencing (CGS) has generated questions about
the value of genome and exome sequencing as a diagnostic tool. Analysis of reported CGS …

Tangier disease (TD)(OMIM# 205400) is a rare cause of inherited metabolic neuropathies
characterized by marked deficiency of high‐density lipoproteins and accumulation of …

Tangier disease is an autosomal recessive disorder characterized by severe reduction in
high-density lipoprotein cholesterol and peripheral lipid storage. We describe a family with c …

Head and neck cancer (HNC), which is among the deadliest malignancies, is the seventh
most common cancer worldwide. How cholesterol homeostasis is linked to human cancers …

Objectives Tangier disease (TD) is a rare autosomal recessive condition characterized by
high-density lipoprotein (HDL) deficiency; involving symptoms of polyneuropathy …

Atherosclerosis is the main process underlying the development of cardiovascular disease,
the leading cause of death worldwide. Abnormalities in lipid metabolism are key players in …

Introduction: Tangier disease (TD) is an autosomal recessive disorder characterized by
severe reduction in high‐density lipoprotein and accumulation of cholesterol esters in …

Цел: 1. Да се проучат генотип-фенотипните корелации при различни форми на
наследствени периферни полиневропатии. 2. Да се оцени засягането на тънките …

Tangier Disease (TD)(OMIM# 205400) is a rare human genetic disorder that is seen in
plasma lipoprotein metabolism, characterized by high-density lipoprotein (HDL) deficiency …

Genetic neuropathies comprise a range of conditions which can include neuropathy as a
predominant feature of the disease or as part of a multisystem disease. Small fiber sensory …