List of works - Marie-Cécile Nassogne

A 7-Year-Old Child With Headaches and Prolonged Fever Associated With Oral and Nail Lesions

scientific article published on 03 November 2019

A gene encoding a putative FAD-dependent L-2-hydroxyglutarate dehydrogenase is mutated in L-2-hydroxyglutaric aciduria

scientific article

Adenylosuccinase deficiency: an unusual cause of early-onset epilepsy associated with acquired microcephaly

scientific article (publication date: September 2000)

Albinism and agenesis of the corpus callosum with profound developmental delay: Vici syndrome, evidence for autosomal recessive inheritance

article

Anti-streptavidin antibodies mimicking heterophilic antibodies in thyroid function tests

scientific article published on 15 February 2018

Biallelic pathogenic variants in the lanosterol synthase gene LSS involved in the cholesterol biosynthesis cause alopecia with intellectual disability, a rare recessive neuroectodermal syndrome

scientific article published on 06 February 2019

CCDC115 Deficiency Causes a Disorder of Golgi Homeostasis with Abnormal Protein Glycosylation

scientific journal article

Cardiac and neurological assessment of normothermia/warm blood cardioplegia vs hypothermia/cold crystalloid cardioplegia in pediatric cardiac surgery: insight from a prospective randomized trial☆ ⬇️

scientific article published on July 12, 2011

Cocaine induces a mixed lysosomal lipidosis in cultured fibroblasts, by inactivation of acid sphingomyelinase and inhibition of phospholipase A1

scientific journal article

Delta1-pyrroline-5-carboxylate synthase deficiency: neurodegeneration, cataracts and connective tissue manifestations combined with hyperammonaemia and reduced ornithine, citrulline, arginine and proline

scientific article

Evidence of a wide spectrum of cardiac involvement due to ACAD9 mutations: Report on nine patients

scientific article published on 13 May 2016

Genetic hypoglycaemia in infancy and childhood: pathophysiology and diagnosis.

scientific article

Hydrocephalus in children under the age of five from diagnosis to short-/medium-/long-term progression: a retrospective review of 142 children.

scientific article published on 12 February 2018

Identification of New Medium-Chain Acylcarnitines Present in Normal Human Urine ⬇️

scientific article published on 01 September 1997

In contrast to cocaine, prenatal exposure to methadone does not produce detectable alterations in the developing mouse brain ⬇️

scientific article published on September 10, 1998

Molecular identification of aspartate N-acetyltransferase and its mutation in hypoacetylaspartia

scientific journal article

Mutation of a nuclear respiratory factor 2 binding site in the 5' untranslated region of the ADSL gene in three patients with adenylosuccinate lyase deficiency

scientific article

Pandemic A/H1N1v influenza 2009 in hospitalized children: a multicenter Belgian survey

scientific article

Primary cerebral arteritis in a young girl: An unusual cause of acute recurrent neurological deterioration ⬇️

scientific article published on July 23, 2011

Progressive hemiparesis reveals X-linked adrenoleukodystrophy in a 3.5-year-old boy

scientific article published on 27 February 2020

SLC13A3 variants cause acute reversible leukoencephalopathy and α-ketoglutarate accumulation

scientific article published on 29 January 2019

Selective direct toxicity of cocaine on fetal mouse neurons. Teratogenic implications of neurite and apoptotic neuronal loss

Spontaneous improvement in oculomotor function of children with cerebral palsy

scientific article published on 20 November 2014

Treatment outcome of creatine transporter deficiency: international retrospective cohort study

scientific article published on 12 February 2018

Tyrosinemia Type III detected via neonatal screening: Management and outcome ⬇️

scientific article published on September 7, 2012

Unusual association between lysinuric protein intolerance and moyamoya vasculopathy

scientific article published on 8 June 2016

List of works by Marie-Cécile Nassogne

A 7-Year-Old Child With Headaches and Prolonged Fever Associated With Oral and Nail Lesions

A gene encoding a putative FAD-dependent L-2-hydroxyglutarate dehydrogenase is mutated in L-2-hydroxyglutaric aciduria

Adenylosuccinase deficiency: an unusual cause of early-onset epilepsy associated with acquired microcephaly

Albinism and agenesis of the corpus callosum with profound developmental delay: Vici syndrome, evidence for autosomal recessive inheritance

Anti-streptavidin antibodies mimicking heterophilic antibodies in thyroid function tests

Biallelic pathogenic variants in the lanosterol synthase gene LSS involved in the cholesterol biosynthesis cause alopecia with intellectual disability, a rare recessive neuroectodermal syndrome

CCDC115 Deficiency Causes a Disorder of Golgi Homeostasis with Abnormal Protein Glycosylation

Cardiac and neurological assessment of normothermia/warm blood cardioplegia vs hypothermia/cold crystalloid cardioplegia in pediatric cardiac surgery: insight from a prospective randomized trial☆ ⬇️

Cocaine induces a mixed lysosomal lipidosis in cultured fibroblasts, by inactivation of acid sphingomyelinase and inhibition of phospholipase A1

Delta1-pyrroline-5-carboxylate synthase deficiency: neurodegeneration, cataracts and connective tissue manifestations combined with hyperammonaemia and reduced ornithine, citrulline, arginine and proline

Evidence of a wide spectrum of cardiac involvement due to ACAD9 mutations: Report on nine patients

Genetic hypoglycaemia in infancy and childhood: pathophysiology and diagnosis.

Hydrocephalus in children under the age of five from diagnosis to short-/medium-/long-term progression: a retrospective review of 142 children.

Identification of New Medium-Chain Acylcarnitines Present in Normal Human Urine ⬇️

In contrast to cocaine, prenatal exposure to methadone does not produce detectable alterations in the developing mouse brain ⬇️

Molecular identification of aspartate N-acetyltransferase and its mutation in hypoacetylaspartia

Mutation of a nuclear respiratory factor 2 binding site in the 5' untranslated region of the ADSL gene in three patients with adenylosuccinate lyase deficiency

Pandemic A/H1N1v influenza 2009 in hospitalized children: a multicenter Belgian survey

Primary cerebral arteritis in a young girl: An unusual cause of acute recurrent neurological deterioration ⬇️

Progressive hemiparesis reveals X-linked adrenoleukodystrophy in a 3.5-year-old boy

SLC13A3 variants cause acute reversible leukoencephalopathy and α-ketoglutarate accumulation

Selective direct toxicity of cocaine on fetal mouse neurons. Teratogenic implications of neurite and apoptotic neuronal loss

Spontaneous improvement in oculomotor function of children with cerebral palsy

Treatment outcome of creatine transporter deficiency: international retrospective cohort study

Tyrosinemia Type III detected via neonatal screening: Management and outcome ⬇️

Unusual association between lysinuric protein intolerance and moyamoya vasculopathy