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Efficacy of high dose steroid therapy in children with severe acute transverse myelitis

Journal of neurology, neurosurgery and psychiatry, 2001-08, Vol.71 (2), p.272-274

2001

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Infantile presentation of the mitochondrial A8344G mutation

European journal of neurology, 2007-11, Vol.14 (11), p.e3-e5

2007

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Perisylvian dysgenesis clinical, EEG, MRI and glucose metabolism features in 10 patients

Brain (London, England : 1878), 1998-12, Vol.121 (12), p.2229-2238

1998

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Adaptation in neonatology of the once-daily concept of aminoglycoside administration : Evaluation of a dosing chart for amikacin in an intensive care unit

Biology of the neonate, 1998-11, Vol.74 (5), p.351-362

1998

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Fatal infantile cardioencephalomyopathy with COX deficiency and mutations in SCO2 , a COX assembly gene

Nature genetics, 1999-11, Vol.23 (3), p.333-337

1999

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Duplications of the critical Rubinstein–Taybi deletion region on chromosome 16p13.3 cause a novel recognisable syndrome

Journal of medical genetics, 2010-03, Vol.47 (3), p.155-161

2010

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CLINICAL HETEROGENEITY AND ITS POTENTIAL THERAPEUTIC IMPLICATIONS IN CHILDREN WITH SCN2A-RELATED DISORDERS

Epilepsia (Copenhagen), 2016, Vol.57 (2, SI), p.114-115

2016

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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?

European journal of paediatric neurology, 2011-05, Vol.15, p.S100-S100

2011

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Diagnostic value of immunostaining in cultured skin fibroblasts from patients with oxidative phosphorylation defects

Pediatric research, 2006, Vol.59 (1), p.2-6

2006

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P04.3 JC-1-based fluorescence to evaluate oxidative phosphorylation defects generates both qualitative and quantitative information

European journal of paediatric neurology, 2011-05, Vol.15, p.S46-S46

2011

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Intérêt diagnostique et pronostique des potentiels évoqués face à une hypoxie cérébrale du nouveau-né

Archives de pédiatrie (Paris), 1996, Vol.3, p.S251-S253

1996

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Neonatal seizures and severe hypotonia in a male infant suffering from a defect in peroxisomal β-oxidation

Neuromuscular disorders : NMD, 1992, Vol.2 (3), p.217-224

1992

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Multimodality evoked potentials as a prognostic tool in term asphyxiated newborns

Electroencephalography and clinical neurophysiology, 1998-03, Vol.108 (2), p.199-207

1998

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Diagnostic and prognostic value of evoked potentials facing cerebral hypoxia in newborn infants

Archives de pédiatrie : organe officiel de la Société française de pédiatrie, 1996, Vol.3 Suppl 1, p.251s-253s

1996

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Once-a-day administration of amikacin in neonates: assessment of nephrotoxicity and ototoxicity

Developmental pharmacology and therapeutics, 1993-01, Vol.20 (3-4), p.220-230

1993

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Effects of phenobarbital on cerebral blood flow in the newborn piglet

Developmental pharmacology and therapeutics, 1992, Vol.19 (1), p.10-18

1992

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Administration en dose unique journalière de l'amikacine. Adaptation à la néonatologie pour des enfants traités avant le 3ème jour d'âge postnatal

Médecine et maladies infectieuses, 1993-09, Vol.23 (SEP), p.44-54

1993

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Ontogeny of human caffeine and theophylline metabolism

Developmental pharmacology and therapeutics, 1984, Vol.7 Suppl 1 (S1), p.18-25

1984

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Asymptomatic pancreatitis in cystic fibrosis without enzymatic achylia

Acta paedriatrica belgica, 1980-01, Vol.33 (3), p.179

1980

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Sjögren-Larsson-like syndrome with bone dysplasia and normal fatty alcohol NAD + oxidoreductase activity

Pediatric neurology, 1992-11, Vol.8 (6), p.459-465

1992

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Effects of ethacrynic acid in the newborn infant

The Journal of pediatrics, 1984-06, Vol.104 (6), p.947-950

1984

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Vigabatrin in uncontrolled seizures: Belgian clinical experience

Clinical neurology and neurosurgery, 1994, Vol.96 (1), p.42-46

Lhoir, A.

1994

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Loss of function of NCOR1 and NCOR2 impairs memory through a novel GABAergic hypothalamus-CA3 projection

Nature neuroscience, 2019-02, Vol.22 (2), p.205-217

2019

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Infantile presentation of the mitochondrial A8344G mutation

European journal of neurology, 2007, Vol.14 (11), p.e3-e5

2007

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Clinical delineation, sex differences, and genotype–phenotype correlation in pathogenic KDM6A variants causing X-linked Kabuki syndrome type 2

Genetics in medicine, 2021-07, Vol.23 (7), p.1202-1210

2021

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Efficacy of high dose steroid therapy in children with severe acute transverse myelitis

Infantile presentation of the mitochondrial A8344G mutation

Perisylvian dysgenesis clinical, EEG, MRI and glucose metabolism features in 10 patients

Adaptation in neonatology of the once-daily concept of aminoglycoside administration : Evaluation of a dosing chart for amikacin in an intensive care unit

Fatal infantile cardioencephalomyopathy with COX deficiency and mutations in SCO2 , a COX assembly gene

Duplications of the critical Rubinstein–Taybi deletion region on chromosome 16p13.3 cause a novel recognisable syndrome

CLINICAL HETEROGENEITY AND ITS POTENTIAL THERAPEUTIC IMPLICATIONS IN CHILDREN WITH SCN2A-RELATED DISORDERS

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?

Diagnostic value of immunostaining in cultured skin fibroblasts from patients with oxidative phosphorylation defects

P04.3 JC-1-based fluorescence to evaluate oxidative phosphorylation defects generates both qualitative and quantitative information

Intérêt diagnostique et pronostique des potentiels évoqués face à une hypoxie cérébrale du nouveau-né

Neonatal seizures and severe hypotonia in a male infant suffering from a defect in peroxisomal β-oxidation

Multimodality evoked potentials as a prognostic tool in term asphyxiated newborns

Diagnostic and prognostic value of evoked potentials facing cerebral hypoxia in newborn infants

Once-a-day administration of amikacin in neonates: assessment of nephrotoxicity and ototoxicity

Effects of phenobarbital on cerebral blood flow in the newborn piglet

Administration en dose unique journalière de l'amikacine. Adaptation à la néonatologie pour des enfants traités avant le 3ème jour d'âge postnatal

Ontogeny of human caffeine and theophylline metabolism

Asymptomatic pancreatitis in cystic fibrosis without enzymatic achylia

Sjögren-Larsson-like syndrome with bone dysplasia and normal fatty alcohol NAD + oxidoreductase activity

Effects of ethacrynic acid in the newborn infant

Vigabatrin in uncontrolled seizures: Belgian clinical experience

Loss of function of NCOR1 and NCOR2 impairs memory through a novel GABAergic hypothalamus-CA3 projection

Infantile presentation of the mitochondrial A8344G mutation

Clinical delineation, sex differences, and genotype–phenotype correlation in pathogenic KDM6A variants causing X-linked Kabuki syndrome type 2

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