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  1. No Access

    Article

    Rare genetic variants potentially involved in ovarian hyperstimulation syndrome

    We aim to investigate whether there is a genetic predisposition in women who developed ovarian hyperstimulation syndrome (OHSS) after GnRH antagonist protocol with GnRH agonist trigger and freeze-all approach.

    Katrien Stouffs, Sari Daelemans… in Journal of Assisted Reproduction and Genet… (2019)

  2. Article

    Open Access

    Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective?

    Mitochondrial acyl-CoA dehydrogenase family member 9 (ACAD9) is essential for the assembly of mitochondrial respiratory chain complex I. Disease causing biallelic variants in ACAD9 have been reported in individua...

    Birgit M. Repp, Elisa Mastantuono, Charlotte L. Alston… in Orphanet Journal of Rare Diseases (2018)

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  3. No Access

    Article

    Mutation of the iron-sulfur cluster assembly gene IBA57 causes fatal infantile leukodystrophy

    Leukodystrophies are a heterogeneous group of severe genetic neurodegenerative disorders. A multiple mitochondrial dysfunctions syndrome was found in an infant presenting with a progressive leukoencephalopathy...

    François-Guillaume Debray, Claudia Stümpfig… in Journal of Inherited Metabolic Disease (2015)

  4. No Access

    Article

    Ovarian hyperstimulation syndrome after gonadotropin-releasing hormone agonist triggering and “freeze-all”: in-depth analysis of genetic predisposition

    We report on the results of the whole-genome analysis performed in a patient who developed severe ovarian hyperstimulation syndrome (OHSS) following gonadotropin-releasing hormone (GnRH) agonist triggering in ...

    Samuel Santos-Ribeiro, Nikolaos P. Polyzos… in Journal of Assisted Reproduction and Genet… (2015)

  5. No Access

    Article

    Extremely high mutation load of the mitochondrial 8993 T>G mutation in a newborn: implications for prognosis and family planning decisions

    The propositus presented with hypotonia, respiratory failure, and seizures in the newborn period and was found to have severe hyperlactacidemia and a hypertrophic heart. He carried a de novo pathogenic mutatio...

    Claudine De Praeter, Arnaud Vanlander… in European Journal of Pediatrics (2015)

  6. No Access

    Article

    Characterization of CoQ10 biosynthesis in fibroblasts of patients with primary and secondary CoQ10 deficiency

    Primary coenzyme Q10 (CoQ10) deficiencies are associated with mutations in genes encoding enzymes important for its biosynthesis and patients are responsive to CoQ10 supplementation. Early treatment allows better...

    Nuria Buján, Angela Arias, Raquel Montero… in Journal of Inherited Metabolic Disease (2014)

  7. Article

    Fluorescence imaging of mitochondria in cultured skin fibroblasts: a useful method for the detection of oxidative phosphorylation defects

    Protons are pumped from the mitochondrial matrix via oxidative phosphorylation (OXPHOS) into the intermembrane space, creating an electric membrane potential (ΔΨ) that is used for adenosine triphosphate (ATP) ...

    Boel De Paepe, Joél Smet, Arnaud Vanlander, Sara Seneca… in Pediatric Research (2012)

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  8. No Access

    Article

    Complex III staining in blue native polyacrylamide gels

    For more than a decade now blue native polyacrylamide gel electrophoresis (BN-PAGE) has been used for the study of the oxidative phosphorylation (OXPHOS) complexes. Catalytic activities of complexes I, II, IV ...

    Joél Smet, Boel De Paepe, Sara Seneca… in Journal of Inherited Metabolic Disease (2011)

  9. No Access

    Article

    The reproductive outcome of female patients with myotonic dystrophy type 1 (DM1) undergoing PGD is not affected by the size of the expanded CTG repeat tract

    This study aims to analyze the relationship between trinucleotide repeat length and reproductive outcome in a large cohort of DM1 patients undergoing ICSI and PGD.

    Willem Verpoest, Sara Seneca… in Journal of Assisted Reproduction and Genet… (2010)

  10. Article

    Open Access

    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)

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  11. Article

    Diagnostic Value of Immunostaining in Cultured Skin Fibroblasts from Patients with Oxidative Phosphorylation Defects

    In the last decades, a large variety of oxidative phosphorylation (OXPHOS) defects have been reported, expressed as an increasing variety of clinical phenotypes. With the expanding number of genes and proteins...

    Boel de Paepe, Joél Smet, Jules G Leroy, Sara Seneca, Edith George… in Pediatric Research (2006)

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  12. No Access

    Article

    Early onset Huntington disease: a neuronal degeneration syndrome

    Huntington disease (HD) is an autosomal dominant, lethal neurodegenerative disorder of the central nervous system, caused by an uncontrolled expansion of a CAG dynamic mutation in the coding region of the IT15ge...

    Sara Seneca, Dominique Fagnart, Kathelijn Keymolen… in European Journal of Pediatrics (2004)

  13. 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)

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