L
Linda De Meirleir
Researcher at Vrije Universiteit Brussel
Publications - 46
Citations - 1785
Linda De Meirleir is an academic researcher from Vrije Universiteit Brussel. The author has contributed to research in topics: Pyruvate dehydrogenase complex & Lactic acidosis. The author has an hindex of 20, co-authored 46 publications receiving 1519 citations. Previous affiliations of Linda De Meirleir include VU University Amsterdam.
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Journal ArticleDOI
Clinical, neuroradiological and genetic findings in pontocerebellar hypoplasia
Yasmin Namavar,Peter G. Barth,Paul R. Kasher,Fred van Ruissen,Knut Brockmann,G. Bernert,Karin Writzl,Karen Ventura,Edith Cheng,Donna M. Ferriero,Lina Basel-Vanagaite,Veerle Rc Eggens,Ingeborg Krägeloh-Mann,Linda De Meirleir,Mary King,John M. Graham,Arpad von Moers,Nine V A M Knoers,László Sztriha,Rudolf Korinthenberg,William B. Dobyns,Frank Baas,Bwee Tien Poll-The +22 more
TL;DR: A strong correlation is found between TSEN54 mutations and a dragonfly-like cerebellar pattern on magnetic resonance imaging, in which the Cerebellar hemispheres are flat and severely reduced in size and the vermis is relatively spared.
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Mutations in the X-linked pyruvate dehydrogenase (E1) alpha subunit gene (PDHA1) in patients with a pyruvate dehydrogenase complex deficiency.
Willy Lissens,Linda De Meirleir,Sara Seneca,Inge Liebaers,Garry K. Brown,Ruth M. Brown,Michinori Ito,Etsuo Naito,Yasuhiro Kuroda,Douglas S. Kerr,Isaiah D. Wexler,Mulchand S. Patel,Brian H. Robinson,Agnieszka Seyda +13 more
TL;DR: The major factors that contribute to the clinical variation in E1α deficiency and its resemblance to a recessive disease are developmental lethality in some males with severe mutations and the pattern of X‐inactivation in females.
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The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation
Stefan Kölker,Angeles Garcia Cazorla,Vassili Valayannopoulos,Allan M. Lund,Alberto Burlina,Jolanta Sykut-Cegielska,Frits A. Wijburg,Elisa Leão Teles,Jiri Zeman,Carlo Dionisi-Vici,Ivo Barić,Daniela Karall,Persephone Augoustides-Savvopoulou,Lise Aksglaede,Jean Baptiste Arnoux,Paula Avram,Matthias R. Baumgartner,Javier Blasco-Alonso,Brigitte Chabrol,Anupam Chakrapani,Kimberly A. Chapman,Elisenda Cortès i Saladelafont,María L. Couce,Linda De Meirleir,Dries Dobbelaere,Veronika Dvorakova,Francesca Furlan,Florian Gleich,Wanda Gradowska,Stephanie Grunewald,Anil Jalan,Johannes Häberle,Gisela Haege,Robin H. Lachmann,Alexander Laemmle,Eveline J. Langereis,Pascale de Lonlay,Diego Martinelli,Shirou Matsumoto,Chris Mühlhausen,Hélène Ogier de Baulny,Carlos Ortez,Luis Peña-Quintana,Danijela Petković Ramadža,Esmeralda Rodrigues,Sabine Scholl-Bürgi,Etienne Sokal,Christian Staufner,Marshall L. Summar,Nicholas Thompson,Roshni Vara,Inmaculada Vives Pinera,John H. Walter,Monique Williams,Peter Burgard +54 more
TL;DR: For patients with MMA, propionic aciduria (PA) and OTC deficiency (male and female), hyperammonemia was more severe in metabolic crises during than after the newborn period, whereas metabolic acidosis tended to be moresevere in MMA and PA patients with late onset of symptoms.
Journal ArticleDOI
The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype
Stefan Kölker,Vassili Valayannopoulos,Alberto Burlina,Jolanta Sykut-Cegielska,Frits A. Wijburg,Elisa Leão Teles,Jiri Zeman,Carlo Dionisi-Vici,Ivo Barić,Daniela Karall,Jean Baptiste Arnoux,Paula Avram,Matthias R. Baumgartner,Javier Blasco-Alonso,S. P Nikolas Boy,Marlene Bøgehus Rasmussen,Peter Burgard,Brigitte Chabrol,Anupam Chakrapani,Kimberly A. Chapman,Elisenda Cortès i Saladelafont,María L. Couce,Linda De Meirleir,Dries Dobbelaere,Francesca Furlan,Florian Gleich,Maria Julieta González,Wanda Gradowska,Stephanie Grunewald,Tomas Honzik,Friederike Hörster,Hariklea Ioannou,Anil Jalan,Johannes Häberle,Gisela Haege,Eveline J. Langereis,Pascale de Lonlay,Diego Martinelli,Shirou Matsumoto,Chris Mühlhausen,Elaine Murphy,Hélène Ogier de Baulny,Carlos Ortez,Consuelo C. Pedrón,Guillem Pintos-Morell,Luis Peña-Quintana,Danijela Petković Ramadža,Esmeralda Rodrigues,Sabine Scholl-Bürgi,Etienne Sokal,Marshall L. Summar,Nicholas Thompson,Roshni Vara,Inmaculada Vives Pinera,John H. Walter,Monique Williams,Allan M. Lund,Angeles Garcia Cazorla +57 more
TL;DR: Neurologic impairment is common in OAD and UCD, whereas the involvement of other organs follows a disease-specific pattern, and the identification of unexpected chronic renal failure in GA1 and ASL deficiency emphasizes the importance of a systematic follow-up in patients with rare diseases.
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A multicenter study on Leigh syndrome: Disease course and predictors of survival
Kalliopi Sofou,Irenaeus F.M. de Coo,Pirjo Isohanni,Pirjo Isohanni,Elsebet Ostergaard,Karin Naess,Linda De Meirleir,Charalampos Tzoulis,Charalampos Tzoulis,Johanna Uusimaa,Johanna Uusimaa,Isabell B De Angst,Tuula Lönnqvist,Helena Pihko,Katariina Mankinen,Laurence A. Bindoff,Laurence A. Bindoff,Mar Tulinius,Niklas Darin +18 more
TL;DR: The presence of pathological signs at birth and a history of epileptic seizures were associated with higher occurrence of acute exacerbations and/or relapses, and increased lactate in the cerebrospinal fluid was significantly correlated to a more severe disease course.