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Parenteral hydroxocobalamin dose intensification in five patients with different types of early onset intracellular cobalamin defects: Clinical and biochemical responses.
Scalais E, Osterheld E, Geron C, Pierron C, Chafai R, Schlesser V, Borde P, Regal L, Laeremans H, van Gassen KLI, van den Heuvel LB, De Meirleir L. Scalais E, et al. Among authors: de meirleir l. JIMD Rep. 2019 Jul 1;49(1):70-79. doi: 10.1002/jmd2.12055. eCollection 2019 Sep. JIMD Rep. 2019. PMID: 31497484 Free PMC article.
X-Linked Cobalamin Disorder (HCFC1) Mimicking Nonketotic Hyperglycinemia With Increased Both Cerebrospinal Fluid Glycine and Methylmalonic Acid.
Scalais E, Osterheld E, Weitzel C, De Meirleir L, Mataigne F, Martens G, Shaikh TH, Coughlin CR 2nd, Yu HC, Swanson M, Friederich MW, Scharer G, Helbling D, Wendt-Andrae J, Van Hove JLK. Scalais E, et al. Among authors: de meirleir l. Pediatr Neurol. 2017 Jun;71:65-69. doi: 10.1016/j.pediatrneurol.2016.12.003. Epub 2017 Jan 7. Pediatr Neurol. 2017. PMID: 28363510
Early myoclonic epilepsy, hypertrophic cardiomyopathy and subsequently a nephrotic syndrome in a patient with CoQ10 deficiency caused by mutations in para-hydroxybenzoate-polyprenyl transferase (COQ2).
Scalais E, Chafai R, Van Coster R, Bindl L, Nuttin C, Panagiotaraki C, Seneca S, Lissens W, Ribes A, Geers C, Smet J, De Meirleir L. Scalais E, et al. Among authors: de meirleir l. Eur J Paediatr Neurol. 2013 Nov;17(6):625-30. doi: 10.1016/j.ejpn.2013.05.013. Epub 2013 Jun 28. Eur J Paediatr Neurol. 2013. PMID: 23816342
Shwachman-Diamond syndrome presenting with early ichthyosis, associated dermal and epidermal intracellular lipid droplets, hypoglycemia, and later distinctive clinical SDS phenotype.
Scalais E, Connerotte AC, Despontin K, Biver A, Ceuterick-de Groote C, Alders M, Kolivras A, Hachem JP, De Meirleir L. Scalais E, et al. Among authors: de meirleir l. Am J Med Genet A. 2016 Jul;170(7):1799-805. doi: 10.1002/ajmg.a.37673. Epub 2016 Apr 29. Am J Med Genet A. 2016. PMID: 27127007
Clinical implementation of gene panel testing for lysosomal storage diseases.
Gheldof A, Seneca S, Stouffs K, Lissens W, Jansen A, Laeremans H, Verloo P, Schoonjans AS, Meuwissen M, Barca D, Martens G, De Meirleir L. Gheldof A, et al. Among authors: de meirleir l. Mol Genet Genomic Med. 2019 Feb;7(2):e00527. doi: 10.1002/mgg3.527. Epub 2018 Dec 11. Mol Genet Genomic Med. 2019. PMID: 30548430 Free PMC article.
Mutations in PEX10 are a cause of autosomal recessive ataxia.
Régal L, Ebberink MS, Goemans N, Wanders RJ, De Meirleir L, Jaeken J, Schrooten M, Van Coster R, Waterham HR. Régal L, et al. Among authors: de meirleir l. Ann Neurol. 2010 Aug;68(2):259-63. doi: 10.1002/ana.22035. Ann Neurol. 2010. PMID: 20695019 Review.
167 results