Linda De Meırleır

Universitair Ziekenhuis Brussel — Belgium

Biochemistry, Genetics and Molecular Biology · Life Sciences

48h-index7.8kcitations288works0.02yr avg
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Research Topics

Metabolism and Genetic Disorders(93), Mitochondrial Function and Pathology(76), Lysosomal Storage Disorders Research(23), ATP Synthase and ATPases Research(23), RNA modifications and cancer(22)

Publications288 total

Disorders of the Pyruvate Metabolism and the Krebs Cycle
2022
Effectiveness and safety of the tri-iodothyronine analogue Triac in children and adults with MCT8 deficiency: an international, single-arm, open-label, phase 2 trial
The Lancet Diabetes & Endocrinology·2019· 122 citedOpen Access
<i>TANGO2</i> deficiency as a cause of neurodevelopmental delay with indirect effects on mitochondrial energy metabolism
Journal of Inherited Metabolic Disease·2019· 56 cited
Parenteral hydroxocobalamin dose intensification in five patients with different types of early onset intracellular cobalamin defects: Clinical and biochemical responses
JIMD Reports·2019· 12 citedOpen Access
Multidisciplinary diagnostic settings for children with a neurobiological developmental delay or disorder in Flanders: comparison of governmental regulations.
VUBIR (Vrije Universiteit Brussel)·2019
Decreased plasma l-arginine levels in organic acidurias (MMA and PA) and decreased plasma branched-chain amino acid levels in urea cycle disorders as a potential cause of growth retardation: Options for treatment
Molecular Genetics and Metabolism·2019· 32 citedOpen Access
Diagnostics of neurobiological developmental disorders: a multidisciplinary approach. Case study: Center for Developmental Disorders, Kidz Health Castle, Brussels, Belgium.
VUBIR (Vrije Universiteit Brussel)·2019
Lifespan perspective on diagnostics along the disease trajectory of children with a neurobiological developmental delay or disorder. A network approach.
VUBIR (Vrije Universiteit Brussel)·2019
Clinical implementation of gene panel testing for lysosomal storage diseases
Molecular Genetics & Genomic Medicine·2018· 33 citedOpen Access
Integrated care for diagnostics along the disease trajectory of children with a neurobiological developmental delay or disorder. A network approach
International Journal of Integrated Care·2018· 6 citedOpen Access
How regulations of multidisciplinary diagnostic settings for children with a neurobiological developmental delay or disorder impact on integration of care: the case of Flanders, Belgium
International Journal of Integrated Care·2018Open Access
International working group identifies need for newborn screening for mucopolysaccharidosis type I but states that existing hurdles must be overcome
Acta Paediatrica·2018· 14 citedOpen Access
REGISTRIES AND CARE OF NEUROMUSCULAR DISORDERS
Neuromuscular Disorders·2018
Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective?
Orphanet Journal of Rare Diseases·2018· 79 citedOpen Access
Quantifying the changes in activity level of neuromuscular patients using the ACTIVLIM questionnaire: A 5-years study
Annals of Physical and Rehabilitation Medicine·2018· 1 cited
Biallelic mutations in RTTN are associated with microcephaly, short stature and a wide range of brain malformations
European Journal of Medical Genetics·2018· 14 citedOpen Access
Efficacy and safety of Velmanase alfa in the treatment of patients with alpha‐mannosidosis: results from the core and extension phase analysis of a phase III multicentre, double‐blind, randomised, placebo‐controlled trial
Journal of Inherited Metabolic Disease·2018· 59 citedOpen Access
Easy‐to‐use algorithm would provide faster diagnoses for mucopolysaccharidosis type I and enable patients to receive earlier treatment
Acta Paediatrica·2018· 13 citedOpen Access
Comprehensive long‐term efficacy and safety of recombinant human alpha‐mannosidase (velmanase alfa) treatment in patients with alpha‐mannosidosis
Journal of Inherited Metabolic Disease·2018· 55 citedOpen Access
Megalencephalic leukoencephalopathy with subcortical cysts
Neurology·2018· 81 citedOpen Access
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Frequent Co-authors

Sara Seneca(16), Willy Lissens(12), Rudy Van Coster(10), Allan M. Lund(6), Joél Smet(6), Nathalie Guffon(4), Jolanta Sykut‐Cegielska(4), Ron A. Wevers(4), Éva Morava(4), I.F.M. de Coo(4), Niklas Darín(4), Alberto Burlina(4), Hélène Verhelst(4), Marie‐Cécile Nassogne(4), Michael Beck(3), Enrico Bertini(3), Dirk J. Lefeber(3), Pirjo Isohanni(3), Elsebet Østergaard(3), K Naess(3)