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 …

Acute intermittent porphyria (AIP) is an autosomal dominant inherited disease with low
clinical penetrance, caused by mutations in the hydroxymethylbilane synthase (HMBS) …

Objectives Supplementation of high protein oral nutrition shakes supplemented with β-
hydroxy-β-methylbutyrate (HP-HMB) has been shown to improve muscle mass, muscle …

Defects in hydroxymethylbilane synthase (HMBS) can cause acute intermittent porphyria
(AIP), an acute neurological disease. Although sequencing-based diagnosis can be …

Acute intermittent porphyria (AIP) is a dominant inherited disorder with a low penetrance that
is caused by mutations in the gene coding for hydroxymethylbilane synthase (HMBS) …

Beta-hydroxy-beta-methylbutyrate and sarcopenia: from biolog... : Current Opinion in Clinical
Nutrition & Metabolic Care Beta-hydroxy-beta-methylbutyrate and sarcopenia: from biological …

Reverse transcription-quantitative (RT-q) PCR is the most feasible and useful technique for
identifying and evaluating cancer biomarkers; however, the method requires suitable …

Proteolysis-targeting chimeras (PROTACs), which can selectively induce the degradation of
target proteins, represent an attractive technology in drug discovery. A large number of …

Reverse transcription quantitative real-time PCR is the most commonly used method to
detect gene expression levels. In experiments, it is often necessary to correct and …

Background Acute intermittent porphyria (AIP) is a rare inherited disorder with extremely low
prevalence. Early detection of patients with potential pathogenic hydroxymethylbilane …