Genetic studies have mapped the defect of this disorder to the long arm of chromosome 18 and a gene that codes for a P-type ATPase, which appears to be involved in aminophospholipid transport. [ncbi.nlm.nih.gov]

Each chromosome has a short arm designated “p” and a long arm designated “q”. Chromosomes are further sub-divided into many bands that are numbered. For example, “chromosome 7q21.1” refers to band 21.1 on the long arm of chromosome 7. [lifewithnogallbladder.com]

Since all former approaches to medical treatment of the patients severe pruritus were ineffective, the patient was treated by 3 sessions of albumin dialysis (MARS, Molecular Adsorbents Recirculating System). [ncbi.nlm.nih.gov]

The clinical and biochemical features of PFIC and BRIC are suggestive of a defect in primary bile acid secretion. [ncbi.nlm.nih.gov]

During the icteric phase, serum levels of total bile acids increased, most being conjugates of primary bile acids. Electron microscopy revealed that the bile canaliculi were filled with an increased volume of granular substances. [ncbi.nlm.nih.gov]

However, as liver function deteriorates, the proportion of 1β-hydroxylated bile acids is reduced while the proportion of ketonic bile acids increases[17]. [ghrnet.org]