Background Up-regulation of hepatic delta-aminolevulinic acid synthase 1 (ALAS1), with
resultant accumulation of delta-aminolevulinic acid (ALA) and porphobilinogen, is central to …

Background Erythropoietic protoporphyria is a severe photodermatosis that is associated
with acute phototoxicity. Patients with this condition have excruciating pain and a markedly …

Objective To study pregnancy chance in adult women with classic galactosemia and primary
ovarian insufficiency. Despite dietary treatment,> 90% of women with classic galactosemia …

Introduction: In erythropoietic protoporphyria (EPP), an inherited disorder of heme
biosynthesis, accumulation of protoporphyrin IX results in acute phototoxicity. EPP patients …

Context: Previous clinical studies concerning the impact of body weight loss on single
plasma TSH concentration measurements or the TSH response to TRH in obese humans …

Background and Aims Acute hepatic porphyria comprises a group of rare genetic diseases
caused by mutations in genes involved in heme biosynthesis. Patients can experience acute …

Plasma leptin concentrations were measured every 20 min for 24 h in eight normal weight
women and in eight upper body and eight lower body obese women matched for body mass …

Objective Early treatment of phenylketonuria (ET-PKU) prevents mental retardation, but
many patients still show cognitive and mood problems. In this study, it was investigated …

We used deconvolution analysis of 24-h plasma GH concentration profiles (10-min sampling
intervals) to appraise GH secretion rates and elimination kinetics in obese (body mass …

OBJECTIVES: We determined the extent, severity, distribution and type of coronary plaques
in cardiac asymptomatic patients with familial hypercholesterolemia (FH) using computed …