7 Result(s)

Article

Mutations in RNU7-1 Weaken Secondary RNA Structure, Induce MCP-1 and CXCL10 in CSF, and Result in Aicardi-Goutières Syndrome with Severe End-Organ Involvement

Aicardi-Goutières syndrome (AGS) is a type I interferonopathy usually characterized by early-onset neurologic regression. Biallelic mutations in LSM11 and RNU7-1, components of the U7 small nuclear ribonucleoprot...

Leslie Naesens, Josephine Nemegeer, Filip Roelens… in Journal of Clinical Immunology (2022)

Article

Shortcutting the diagnostic odyssey: the multidisciplinary Program for Undiagnosed Rare Diseases in adults (UD-PrOZA)

In order to facilitate the diagnostic process for adult patients suffering from a rare disease, the Undiagnosed Disease Program (UD-PrOZA) was founded in 2015 at the Ghent University Hospital in Belgium. In th...

Nika Schuermans, Dimitri Hemelsoet, Wim Terryn… in Orphanet Journal of Rare Diseases (2022)

Article

A child presenting with severe hypertension and circulatory failure—a diagnostic conundrum: Answers

Werner Keenswijk, Patrick Verloo, Johan Vande Walle in Pediatric Nephrology (2017)

Article

Mitochondrial mosaics in the liver of 3 infants with mtDNA defects

In muscle cytochrome oxidase (COX) negative fibers (mitochondrial mosaics) have often been visualized.

Frank Roels, Patrick Verloo, François Eyskens, Baudouin François… in BMC Clinical Pathology (2009)

Article

Blue Native Polyacrylamide Gel Electrophoresis: A Powerful Tool in Diagnosis of Oxidative Phosphorylation Defects

Catalytic activity of oxidative phosphorylation complexes is maintained following separation by Blue Native polyacrylamide gel electrophoresis (BN-PAGE). In BN-PAGE gels, using histochemical staining methods, ...

Rudy Van Coster, Joel Smet, Edith George, Linda De Meirleir… in Pediatric Research (2001)