Diseases

Diseases

Industry: Health care

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Diseases

Glucosephosphate dehydrogenase deficiency

Health care; Diseases

A disease-producing enzyme deficiency subject to many variants, some of which cause a deficiency of enzyme activity in erythrocytes, leading to hemolytic anemia.

Critical illness

Health care; Diseases

A disease or state in which death is possible or imminent.

A familial congenital hemolytic anaemia characterised by numerous abnormally shaped erythrocytes which are generally spheroidal. The erythrocytes have increased osmotic fragility and are abnormally ...

Androgen-insensitivity syndrome

Health care; Diseases

A familial form of pseudohermaphroditism transmitted as an X-linked recessive trait. These patients have a karyotype of 46,XY with end-organ resistance to androgen due to mutations in the androgen ...

Huntington disease

Health care; Diseases

A familial disorder inherited as an autosomal dominant trait and characterised by the onset of progressive chorea and dementia in the fourth or fifth decade of life. Common initial manifestations ...

Congenital dyserythropoietic anaemia

Health care; Diseases

A familial disorder characterised by anaemia with multinuclear erythroblasts, karyorrhexis, asynchrony of nuclear and cytoplasmic maturation, and various nuclear abnormalities of bone marrow ...

Crigler-Najjar syndrome

Health care; Diseases

A familial form of congenital hyperbilirubinemia transmitted as an autosomal recessive trait. It is characterised by icterus and brain damage caused by a glucuronyl transferase deficiency in the ...