Zobrazeno 1 - 10
of 149
pro vyhledávání: '"Linda de Meirleir"'
Autor:
Emmanuel Scalais, Elise Osterheld, Christine Geron, Charlotte Pierron, Ronit Chafai, Vincent Schlesser, Patricia Borde, Luc Regal, Hilde Laeremans, Koen L. I. vanGassen, L. Bert van denHeuvel, Linda De Meirleir
Publikováno v:
JIMD Reports, Vol 49, Iss 1, Pp 70-79 (2019)
Abstract Intracellular cobalamin metabolism (ICM) defects can be present as autosomal recessive or X‐linked disorders. Parenteral hydroxocobalamin (P‐OHCbl) is the mainstay of therapy, but the optimal dose has not been determined. Despite early t
Externí odkaz:
https://doaj.org/article/4a6dd49a31ed48feb1180e64c196c0f3
Autor:
Birgit M. Repp, Elisa Mastantuono, Charlotte L. Alston, Manuel Schiff, Tobias B. Haack, Agnes Rötig, Anna Ardissone, Anne Lombès, Claudia B. Catarino, Daria Diodato, Gudrun Schottmann, Joanna Poulton, Alberto Burlina, An Jonckheere, Arnold Munnich, Boris Rolinski, Daniele Ghezzi, Dariusz Rokicki, Diana Wellesley, Diego Martinelli, Ding Wenhong, Eleonora Lamantea, Elsebet Ostergaard, Ewa Pronicka, Germaine Pierre, Hubert J. M. Smeets, Ilka Wittig, Ingrid Scurr, Irenaeus F. M. de Coo, Isabella Moroni, Joél Smet, Johannes A. Mayr, Lifang Dai, Linda de Meirleir, Markus Schuelke, Massimo Zeviani, Raphael J. Morscher, Robert McFarland, Sara Seneca, Thomas Klopstock, Thomas Meitinger, Thomas Wieland, Tim M. Strom, Ulrike Herberg, Uwe Ahting, Wolfgang Sperl, Marie-Cecile Nassogne, Han Ling, Fang Fang, Peter Freisinger, Rudy Van Coster, Valentina Strecker, Robert W. Taylor, Johannes Häberle, Jerry Vockley, Holger Prokisch, Saskia Wortmann
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 13, Iss 1, Pp 1-10 (2018)
Abstract Background 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 individuals presenting with
Externí odkaz:
https://doaj.org/article/129e2104cafd486f9cf68aead98de16c
Autor:
Line Borgwardt MD, Nathalie Guffon MD, Yasmina Amraoui MD, Simon A. Jones MD, Linda De Meirleir MD, Allan M. Lund MD, Mercedes Gil-Campos MD, Johanna M. P. Van den Hout MD, Anna Tylki-Szymanska MD, Silvia Geraci MS, Diego Ardigò MD, PhD, Federica Cattaneo MD, Paul Harmatz MD, Dawn Phillips PT, MS, PhD
Publikováno v:
Journal of Inborn Errors of Metabolism and Screening, Vol 6 (2018)
Alpha-mannosidosis, a rare lysosomal storage disorder caused by deficiency of the lysosomal enzyme alpha-mannosidase, results in accumulation of mannose-rich glycoproteins in the tissues and sequelae leading to intellectual disability, ataxia, impair
Externí odkaz:
https://doaj.org/article/b61a305d443c4bb0bc7dbf1805d1bf29
Autor:
Bernard Dan, Guy Cheron, Ronald Buyl, Linda de Meirleir, Eric Kerckhofs, Marc Degelaen, Ludo de Borre
Publikováno v:
Toxins, Vol 5, Iss 1, Pp 93-105 (2013)
Botulinum toxin injections may significantly improve lower limb kinematics in gait of children with spastic forms of cerebral palsy. Here we aimed to analyze the effect of lower limb botulinum toxin injections on trunk postural control and lower limb
Externí odkaz:
https://doaj.org/article/26b8a14abc834aee9d14ea56dda2c475
Autor:
Kim Vancampenhout, Ben Caljon, Claudia Spits, Katrien Stouffs, An Jonckheere, Linda De Meirleir, Willy Lissens, Arnaud Vanlander, Joél Smet, Boel De Paepe, Rudy Van Coster, Sara Seneca
Publikováno v:
PLoS ONE, Vol 9, Iss 11, p e112950 (2014)
The advent of massive parallel sequencing (MPS) has revolutionized the field of human molecular genetics, including the diagnostic study of mitochondrial (mt) DNA dysfunction. The analysis of the complete mitochondrial genome using MPS platforms is n
Externí odkaz:
https://doaj.org/article/084d91aa6c5742289cd80d0e88be09ce
Publikováno v:
Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases ISBN: 9783030677268
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c23e80c6ea0398d492debf577a87ce57
https://doi.org/10.1007/978-3-030-67727-5_42
https://doi.org/10.1007/978-3-030-67727-5_42
Autor:
Vincent Schlesser, Christine Geron, Ronit Chafai, L Bert van den Heuvel, Hilde Laeremans, Emmanuel Scalais, Patricia Borde, Elise Osterheld, Koen L I van Gassen, Linda De Meirleir, Luc Regal, Charlotte Pierron
Publikováno v:
JIMD Reports, Vol 49, Iss 1, Pp 70-79 (2019)
JIMD Reports
JIMD reports, 49 (1
Jimd Reports, 49, 70-79
JIMD Reports, 49(1), 70. Springer Berlin
Jimd Reports, 49, 1, pp. 70-79
JIMD Reports
JIMD reports, 49 (1
Jimd Reports, 49, 70-79
JIMD Reports, 49(1), 70. Springer Berlin
Jimd Reports, 49, 1, pp. 70-79
Intracellular cobalamin metabolism (ICM) defects can be present as autosomal recessive or X-linked disorders. Parenteral hydroxocobalamin (P-OHCbl) is the mainstay of therapy, but the optimal dose has not been determined. Despite early treatment, lon
Autor:
Allan M. Lund, A. Broomfield, Rossella Parini, Maja Di Rocco, Waseem Mahmoud Fathalla, Anna Tylki-Szymańska, Maurizio Scarpa, Christina Lampe, Nathalie Guffon, Maureen Cleary, Linda De Meirleir, Jiří Zeman
Publikováno v:
Acta Paediatrica (Oslo, Norway : 1992)
Aim Mucopolysaccharidosis type I is a lysosomal storage disorder that can result in significant disease burden, disability and premature death, if left untreated. The aim of this review was to elaborate on the diagnosis of mucopolysaccharidosis type
Autor:
J. M. Hannerieke Van den Hout, Allan M. Lund, Nathalie Guffon, Line Borgwardt, Federica Cattaneo, Simon Jones, Linda De Meirleir, Yasmina Amraoui, Christine í Dali, Jens Fogh, Diego Ardigò, Ulla Haugsted, Silvia Geraci, Anna Tylki-Szymańska, Bénédicte Héron, Mercedes Gil-Campos, M Beck
Publikováno v:
Journal of Inherited Metabolic Disease
Journal of Inherited Metabolic Disease, 41(6), 1215-1223. Springer Netherlands
Journal of Inherited Metabolic Disease, 41(6), 1215-1223. Springer Netherlands
Introduction This phase III, double-blind, randomised, placebo-controlled trial (and extension phase) was designed to assess the efficacy and safety of velmanase alfa (VA) in alpha-mannosidosis (AM) patients. Methods Twenty-five patients were randomi
Autor:
Mar Tulinius, Niklas Darin, Kalliopi Sofou, Linda De Meirleir, Johanna Uusimaa, Charalampos Tzoulis, Pirjo Isohanni, Karin Naess, Elsebet Ostergaard, Irenaeus F.M. de Coo, Tuula Lönnqvist, Laurence A. Bindoff
Publikováno v:
Journal of Medical Genetics, 55(1), 21-27. BMJ Publishing Group
BackgroundLeigh syndrome is a phenotypically and genetically heterogeneous mitochondrial disorder. While some genetic defects are associated with well-described phenotypes, phenotype-genotype correlations in Leigh syndrome are not fully explored.Obje