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Bernadette Chadefaux-Vekemans

Necker-Enfants Malades Hospital

30

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Neonatal factors related to survival and intellectual and developmental outcome of patients with early-onset urea cycle disorders

2020 Molecular Genetics and Metabolism
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Dilated Cardiomyopathy and Premature Ovarian Failure Unveiling Propionic Aciduria

2018 Clinical Chemistry
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Citations (2)
Hyperprolinemia in Type 2 Glutaric Aciduria and MADD-Like Profiles

2015
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Pyruvate carboxylase deficiency: An underestimated cause of lactic acidosis

2015 Molecular genetics and metabolism reports
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Heptahelical protein PQLC2 is a lysosomal cationic amino acid exporter underlying the action of cysteamine in cystinosis therapy

2012 Proceedings of the National Academy of Sciences of the United States of America
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Maladies héréditaires du métabolisme : signes anténatals et diagnostic biologique ☆

2012 Archives De Pediatrie
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Gestational age-related reference values for amniotic fluid organic acids.

2009 Prenatal Diagnosis
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Structural insights on pathogenic effects of novel mutations causing pyruvate carboxylase deficiency.

2009 Human Mutation
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Erratum: 'Neurological aspects of hyperinsulinism-hyperammonaemia syndrome' (Developmental Medicine and Child Neurology vol. 50 (945-949))

2009 Developmental Medicine & Child Neurology
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A NEW MOUSE MODEL FOR THE TRISOMY OF THE ABCG1-U2AF1 REGION REVEALS THE COMPLEXITY OF THE COMBINATORIAL GENETIC CODE OF DOWN SYNDROME

2009 Human Molecular Genetics
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Citations (95)