Eli Hershkovitz

TL;DR: In developing a consensus statement, this international group has presented the evidence, developed recommendations, and provided a platform aimed toward future corrective action and ongoing debate in the international community.

TL;DR: It is proposed that a defect in the last step of mitochondrial dNTP salvage is a novel cause of the mtDNA depletion syndrome.

TL;DR: A inactivating mutation in the ecto-nucleotide pyrophosphatase/phosphodiesterase 1 (ENPP1) gene causing autosomal-recessive hypophosphatemic rickets (ARHR) with phosphaturia by positional cloning is identified, suggesting a different pathway involved in the generation of ARHR and possible additional functions for ENPP1.

TL;DR: A patient with agenesis of corpus callosum, dysmorphism, and fatal neonatal lactic acidosis is reported with markedly decreased complex I and IV activity in muscle and liver and a generalized mitochondrial translation defect identified in pulse‐label experiments.

TL;DR: It is demonstrated that HRD and AR-KCS are chaperone diseases caused by a genetic defect in the tubulin assembly pathway, and a potential connection between tubulin physiology and the development of the parathyroid is established.