L. Meirleir

Effectiveness and safety of Triac in children and adults with MCT8 deficiency: an international, multicentre, single group, open-label, phase 2 trial
20210 citationsauthor #8
TANGO2 deficiency as a cause of neurodevelopmental delay with indirect effects on mitochondrial energy metabolism
201949 citationsauthor #10
Global treatment response analysis of velmanase alfa long term enzyme replacement therapy for alpha-mannosidosis shows treatment benefit across ages
20180 citationsauthor #10
Health Related Quality of Life, Disability, and Pain in Alpha Mannosidosis: Long-Term Data of Enzyme Replacement Therapy With Velmanase Alfa (Human Recombinant Alpha Mannosidase)
20187 citationsauthor #5
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
20180 citationsauthor #2
REGISTRIES AND CARE OF NEUROMUSCULAR DISORDERS
20180 citationsauthor #14
Global treatment responder analysis demonstrates clinically relevant effect of velmanase alfa long term enzyme replacement therapy for alpha mannosidosis, in a phase III randomized placebo controlled trial
20180 citationsauthor #7
Three Siblings with Progressive Encephalopathy and Destructive White Matter Lesions
20180 citationsauthor #6
36 – Approach to the Patient with a Metabolic Disorder
20175 citationsauthor #1
Improvement in fine and gross motor proficiency after long-term enzyme replacement therapy with velmanase alfa (human recombinant alpha mannosidase) in alpha-mannosidosis patients
20172 citationsauthor #5
Long-term enzyme replacement therapy with velmanase alfa (human recombinant alpha-mannosidase) slows disease progression in adult patients suffering from alpha-mannosidosis
20175 citationsauthor #5
Complex phenotype associated with mutation in the TANGO2 gene
20170 citationsauthor #1
Improvement in pulmonary function and serum immunoglobulin G in long-term enzyme replacement therapy with velmanase alfa(human recombinant alpha-mannosidase) in alpha-mannosidosis patients
20170 citationsauthor #3
Long-term enzyme replacement therapy with velmanase alfa (human recombinant alpha-mannosidase) improves mobility in alpha-mannosidosis patients
20171 citationsauthor #5
Riboflavin-responsive ACAD9 mutation as cause of familial hypertrophic cardiomyopathy
20170 citationsauthor #7
The neuronal ceroidlipofuscinoses – The journey to the diagnostic
20170 citationsauthor #9
Database crossing allows better understanding of neuromuscular disorders epidemiology: The Belgian example
20160 citationsauthor #12
Erratum to: The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype
20158 citationsauthor #23
PP14.13 – 2765: SCN cluster deletions: More than the classic Dravet syndrome?
20150 citationsauthor #4
Clinical onset and course, response to treatment and outcome in 24 patients with the cblE or cblG remethylation defect complemented by genetic and in vitro enzyme study data
201552 citationsauthor #17
Phenotypic plasticity in neurodevelopmental genetic disorders
20150 citationsauthor #3
Phenotypic plasticity and the perception–action–cognition–environment paradigm in neurodevelopmental genetic disorders
201510 citationsauthor #3
The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation
2015218 citationsauthor #24
P40 – 2775: Unusual presentation in a child with a mutation in GRIN2A
20151 citationsauthor #4
The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype
2015206 citationsauthor #23
P82 – 2690: Surgical history in the child neurology clinic and consideration of Hunter syndrome: Insights from the Hunter Outcome Survey (HOS)
20150 citationsauthor #1
Erratum to: The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation
201512 citationsauthor #24
OP10 – 2707: Childhood-onset ataxic gait solved by muscle biopsy
20151 citationsauthor #6
Pyruvate Carboxylase and Pyruvate Dehydrogenase Deficiency
20141 citationsauthor #1
Early treatment of a child with NAGS deficiency using N-carbamyl glutamate results in a normal neurological outcome
201416 citationsauthor #7
Did lightning strike twice
20140 citationsauthor #12
Characterization of CoQ10 biosynthesis in fibroblasts of patients with primary and secondary CoQ10 deficiency
201429 citationsauthor #9
Disorders of pyruvate metabolism.
20134 citationsauthor #1
Revised recommendations for the management of Gaucher disease in children
2013119 citationsauthor #3
Fatal outcome of iron-sulfur cluster scaffold NFU1 gene mutations in a neonatal patient
20130 citationsauthor #9
A novel compound heterozygous mutation in NFU1 as cause of iron-sulfur cluster biosynthesis
20130 citationsauthor #6
Neonatal pulmonary haemorrhage: presentation of a medium-chain acyl-CoA dehydrogenase deficiency
20130 citationsauthor #3
P284 – 1564 Children with neurological disorders – when should we look for a neurometabolic disease?
20130 citationsauthor #11
P200 – 1735 Acute ataxia revealing PDH deficiency in a 22-month old boy
20130 citationsauthor #4
P118 – 1929 Herpes simplex encephalitis: a diagnostic dilemma
20130 citationsauthor #3
O20 – 1660 Leigh syndrome: a multicenter study of natural history
20130 citationsauthor #8
PP6.9 – 1900 Early fatal outcome in two patients with defect in NFU1
20130 citationsauthor #6
KLINIČKI SPEKTAR MITOHONDRIJSKIH BOLESTI KOD NOVOROĐENČADI I MALE DJECE I DIJAGNOSTIČKI PRISTUP
20120 citationsauthor #1
Fluorescence imaging of mitochondria in cultured skin fibroblasts: a useful method for the detection of oxidative phosphorylation defects
201217 citationsauthor #6
PM1 deficiency: clinical spectrum of a new secondary CDG
20121 citationsauthor #4
The clinical spectrum of mitochondrial diseases in neonates and young children and approach to diagnosis
20120 citationsauthor #1
P5.41 ATP synthase deficiency: A diagnostic strategy for not such an uncommon cause of OXPHOS dysfunction
20110 citationsauthor #5
P04.3 JC-1-based fluorescence to evaluate oxidative phosphorylation defects generates both qualitative and quantitative information
20110 citationsauthor #5
P25.6 Evaluation of follow-up of premature born children
20110 citationsauthor #8
2FC3.6 How to diagnose complex V deficiency, an emerging cause of OXPHOS dysfunction
20110 citationsauthor #5
P08.2 An unusual presentation of leukodystrophy
20110 citationsauthor #5
Progress in Paediatric Neurology Research Conference, Leuven, Belgium, October 1–2, 2010
20110 citationsauthor #1
Two novel mutations and further characterization of the clinical phenotype
20110 citationsauthor #8
Complex III staining in blue native polyacrylamide gels
201123 citationsauthor #6
P17.5 Familial Very long chain Acetyl CoA dehydrogenase deficiency (VLCAD) as a cause of neonatal sudden infant death: could survival in VLCAD deficiency be improved by prompt diagnosis?
20110 citationsauthor #6
Mutations in TMEM70, a gene coding for an assembly factor of complex V, can cause a severe encephalocardiomyopathy in the neonatal period as wel as mild non-progressive encephalopathy in adolescence
20100 citationsauthor #6
ARSACS cause atypical and late-onset forms of SACS Mutations in
20100 citationsauthor #13
Deleterious mutations in RRM2B, a gene responsible for maintenance of mtDNA, result in severe reduction of mtDNA content in skeletal muscle
20100 citationsauthor #5
A Novel Congenital Disorder of Glycosylation Caused by Deficiency in ALG11 (ALG11-CDG)
20100 citationsauthor #5
Developmental milestones in Hunter syndrome: data from HOS - the Hunter Outcome Survey
20100 citationsauthor #3
Mutations in PEX10 Are a Cause of Autosomal Recessive Spinocerebellar Ataxia
20090 citationsauthor #5
P313 Early onset clinical and neuroradiological signs in 2 siblings with mutations in the Sacs gene
20091 citationsauthor #1
ORGANIC ACIDURIA AND LATE ONSET OPTIC ATROPHY
20090 citationsauthor #1
P206 A novel mutation in TUBA1A causes lissencephaly, microcephaly and neonatal seizures
20091 citationsauthor #5
P301 Mitochondrial abnormalities in a newborn with lactic acidosis and adrenal calcifications
20090 citationsauthor #9
Lactic Acidosis in a Newborn With Adrenal Calcifications
20095 citationsauthor #12
Progressive myoclonic epilepsy as an adult-onset manifestation of Leigh syndrome due to the m.14487T>C mutation in ND6
20090 citationsauthor #16
ACUTE RHABDOMYOLYSIS IN YOUNG CHILDREN DUE TO MUTATIONS IN THE LPIN1 GENE
20090 citationsauthor #1
A case of herpes simplex encephalitis: a diagnostic dilemma
20080 citationsauthor #6
Defining the phenotype in an autosomal recessive cutis laxa syndrome with a combined congenital defect of glycosylation
200874 citationsauthor #4
EARLY CLINICAL MANIFESTATIONS IN PATIENTS DIAGNOSED WITH HUNTER SYNDROME: DATA FROM THE HUNTER OUTCOME SURVEY
20080 citationsauthor #6
Immunostaining technniques in patients with mtDNA depletion
20080 citationsauthor #6
Diagnostic approach to mitochondrial disorders
20080 citationsauthor #1
Two different infantile phenotypes of Rett syndromes
20080 citationsauthor #7
Stem cell transplantation for lysosomal storage diseases: The Ghent experience
20070 citationsauthor #2
MLP023 CDG phenotype characterized by failure to thrive, hypotonia, microcephaly and hyperthermia in two infants of North African origin
20070 citationsauthor #7
NMP033 Molecular analysis in congenital muscular dystrophy
20070 citationsauthor #1
Visualizing oxidative phosphorylation defects in skeletal muscle of patients with mitochondrial tRNA gene mutations using immunohistochemistry
20070 citationsauthor #9
A common mutation in the COG7 gene with a consistent phenotype including microcephaly, adducted thumbs, growth retardation, VSD and episodes of hyperthermia
200749 citationsauthor #9
Preliminary screening results for fabry disease in young stroke patients reveals a new mutation
20070 citationsauthor #9
MTO05 The presence of complex V subcomplexes in patients with defective intramitochondrial protein translation
20070 citationsauthor #7
Epilepsy starting 7 years after successful liver transplantation in a girl with argininosuccinate lyase deficiency: MRI and MRS findings
20072 citationsauthor #2
A common mutation in the COG7 gene with a consistent phenotype including microcephaly, adducted thumbs, growth retardation, VSD and episodes of hyperthermia
200764 citationsauthor #9
M.P.1.02 The evaluation of complex III activity using a novel in-gel activity staining method
20070 citationsauthor #7
M.P.1.03 ATP synthase subcomplexes are the hallmark of a defective intramitochondrial protein translation
20070 citationsauthor #7
Detection of complex III deficient patients using a novel activity staining method in the BN-page gel
20070 citationsauthor #8
DUPLICATION OF MECP2 IN A GIRL WITH RETT SYNDROME VARIANT
20060 citationsauthor #3
Mutation of a putative potassium channel tetramerization domain in familial progressive myoclonic epilepsy
20060 citationsauthor #5
ENZYME REPLACEMENT THERAPY IN MPS1
20060 citationsauthor #1
AMINOACYLASE I DEFICIENCY: A NEW INBORN ERROR OF METABOLISM LOCATED IN THE PROTEIN DEGRADATION PATHWAY OF N-ACETYLATED PROTEINS
20061 citationsauthor #8
Complex V subcomplexes detected by BN PAGE are a sign of a defective intramitochondrial protein translation
20060 citationsauthor #7
Disorders of Pyruvate Metabolism and the Tricarboxylic Acid Cycle
200620 citationsauthor #1
Diagnostic Value of Immunostaining in Cultured Skin Fibroblasts from Patients with Oxidative Phosphorylation Defects
200627 citationsauthor #10
Mitochondrial metabolism in women receiving adjuvant chemotherapy for breast cancer
20060 citationsauthor #8
Complex V subcomplexes suggestive of a defective intramitochondrial protein translation.
20060 citationsauthor #7
Acute pancreatitis after growth hormone treatment: disease or treatment linked?
200610 citationsauthor #4
DELAYED NEUROMOTOR DEVELOPMENT COMBINED WITH ALBINISM AND INCREASED VERY LONG CHAIN FATTY ACIDS
20060 citationsauthor #4
A novel mitochondrial tRNA Asn mutation causing multi-organ failure
20060 citationsauthor #8
Epileptic encephalopathy in a boy with an interstitial deletion of Xp22 comprising the CDKL5 gene
20062 citationsauthor #4
Denaturating high performance liquid chromatography, a rapid mutation screening technique for the entire mitochondrial genome.
20050 citationsauthor #8

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