Some individuals with a particular disease-causing mutation or genotype fail to express
most if not all features of the disease in question, a phenomenon that is known as 'reduced …

The inborn errors of heme biosynthesis, the porphyrias, are 8 genetically distinct metabolic
disorders that can be classified as “acute hepatic,”“hepatic cutaneous,” and “erythropoietic …

Physicians should be aware of porphyrias, which could be responsible for unexplained
gastrointestinal, neurologic, or skin disorders. Despite their relative rarity and complexity …

Red blood cells (RBC s) are generated from haematopoietic stem and progenitor cells
(HSPC s) through the step‐wise process of differentiation known as erythropoiesis. In this …

Porphyria diseases are a group of metabolic disorders caused by abnormal functioning of
heme biosynthesis enzymes and characterized by excessive accumulation and excretion of …

Cancer cells undergo substantial metabolic alterations to sustain increased energy supply
and uncontrolled proliferation. As an essential trace element, iron is vital for many biological …

The hereditary porphyrias comprise a group of eight metabolic disorders of the heme
biosynthesis pathway. Each porphyria is caused by abnormal function at a separate …

The inborn errors of heme biosynthesis, the Porphyrias, include eight major disorders
resulting from loss-of-function (LOF) or gain-of-function (GOF) mutations in eight of the nine …

Congenital erythropoietic porphyria (CEP) is a rare autosomal recessive disorder
characterized by photosensitivity and by hematologic abnormalities in affected individuals …

Background Hypoxia and temperature stress are two major adverse environmental
conditions often encountered by fishes. The interaction between hypoxia and temperature …