Affected populations: PFIC is a group of rare genetic diseases that cause progressive liver failure. The exact prevalence of ...

An example of an autosomal recessive condition is cystic fibrosis. Cystic fibrosis close cystic fibrosisA disorder that mainly affects the lungs, pancreas, liver, and intestine. The main symptom ...

Sickle Cell disease is an autosomal recessive disorder that causes anemia, joint pain, a swollen spleen, and frequent, severe infections. It illustrates balanced polymorphism because carriers are ...

Autosomal dominant single-gene diseases occur ... Therefore, females with an X chromosome-linked recessive disease inherit one copy of the mutant gene from an affected father and the second ...

Their ancestors have a high incidence of the autosomal recessive disorder achromatopsia, or total colorblindness, and genetic analysis of the Pingelapese has revealed the mutation responsible.

Fanconi Anaemia is caused by mutations in genes responsible for DNA repair. It is an autosomal recessive disorder, meaning ...

Fanconi anemia (FA) is a rare genetic disorder impairing bone marrow's blood cell production, leading to severe health issues ...

Galzin ® (zinc acetate capsules) is now available for maintenance treatment of patients with Wilson disease who have been initially treated with a chelating agent, according to Eton Pharmaceuticals.

This means it’s an autosomal recessive condition that follows a biallelic inheritance pattern. FCS occurs when genetic mutations prevent the body from producing enough LPL. Around 80% of these ...

The condition is believed to be inherited in an autosomal recessive pattern. Hereditary nephritis - also known as Alport syndrome in humans - is a disorder caused by defects in the type IV ...

Title: Impact of the Enzyme Replacement Therapy, INZ-701, in Children with ENPP1 Deficiency: Experience from an Expanded Access Program Presentation Number: 10 – Poster Session Date: Saturday, ...

Though it’s been used off-label for more than three decades to treat cerebrotendinous xanthomatosis, Mirum Pharmaceuticals Inc.’s chenodiol gained an official U.S. FDA nod Feb. 21 as the first drug ...