Rafael Artuch

TL;DR: The analysis defines the phenotypic spectrum of AGS and suggests a coherent mutation-screening strategy in this heterogeneous disorder, and indicates that at least one further AGS-causing gene remains to be identified.

TL;DR: International Society for Pediatric and Adolescent Diabetes 24th Annual Meeting, Zurich, Switzerland, September 14–17, 1998 Horm Res 1998;50:107–140 Abstracts Dr. Michael S. Harbuz Division of Medicine, Bristol Bristol Royal Infirmary, Marlborough Street Bristol BS2 8HW.

TL;DR: Assays of cultured fibroblasts revealed decreased activities of complex II+III, complex III, and complex IV, reduced expression of mitochondrial proteins involved in oxidative phosphorylation, decreased mitochondrial membrane potential, increased production of reactive oxygen species (ROS), activation of mitochondrial permeability transition (MPT), and reduced growth rates which were partially restored by CoQ supplementation.

TL;DR: The goal was to establish reference values for a pediatric population in the geographical area with working conditions so that they could compare the values in further studies with those of children at risk for moderate hyperhomocysteinemia.

TL;DR: This consensus guideline will improve the care for AADCD patients around the world whilst promoting general awareness of this rare disease.