Bernadette Vekemans-Chadefaux
Paris, France
Last Updated: 09/26/2026
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Found 10 publications
Neonatal factors related to survival and intellectual and developmental outcome of patients with early-onset urea cycle disorders.
Journal: Molecular genetics and metabolism
Published: February 15, 2020
Effects in Cancer Cells of the Recombinant l-Methionine Gamma-Lyase from Brevibacterium aurantiacum. Encapsulation in Human Erythrocytes for Sustained l-Methionine Elimination.
Journal: The Journal of pharmacology and experimental therapeutics
Published: January 12, 2019
Dilated Cardiomyopathy and Premature Ovarian Failure Unveiling Propionic Aciduria.
Journal: Clinical chemistry
Published: September 08, 2017
Long-term metabolic follow-up and clinical outcome of 35 patients with maple syrup urine disease.
Journal: Journal of inherited metabolic disease
Published: April 04, 2017
Biallelic Mutations in LIPT2 Cause a Mitochondrial Lipoylation Defect Associated with Severe Neonatal Encephalopathy.
Journal: American journal of human genetics
Published: March 28, 2017
Hyperprolinemia in Type 2 Glutaric Aciduria and MADD-Like Profiles.
Journal: JIMD reports
Published: June 08, 2015
Excellent long-term outcome of renal transplantation in cystinosis patients.
Journal: Orphanet journal of rare diseases
Published: May 06, 2015
Pyruvate carboxylase deficiency: An underestimated cause of lactic acidosis.
Journal: Molecular genetics and metabolism reports
Published: August 06, 2014
Heptahelical protein PQLC2 is a lysosomal cationic amino acid exporter underlying the action of cysteamine in cystinosis therapy.
Journal: Proceedings of the National Academy of Sciences of the United States of America
Published: November 22, 2012
Prenatal symptoms and diagnosis of inherited metabolic diseases
Journal: Archives de pediatrie : organe officiel de la Societe francaise de pediatrie
Published: May 15, 2012
Showing 1-10 of 10
Last Updated: 09/26/2026