Introduction
Professor of Pediatrics. Head of the Hereditary Metabolic Diseases Reference Center.
MD/PHD since 2003, 225 PUBMD articles, 290 national and international conferences. Specialist in metabolic diseases, in particular phenylketonuria, organic acidurias and rare diseases linked to metal metabolism.
Responsible for teaching pediatrics at the Nancy Faculty of Medicine (2006-2019). Responsible for a teaching session in the DIU of hereditary metabolic diseases (member of the pedagogical council).
MD/PHD since 2003, 225 PUBMD articles, 290 national and international conferences. Specialist in metabolic diseases, in particular phenylketonuria, organic acidurias and rare diseases linked to metal metabolism.
Phenylketonuria: evaluation of adult PKU according to their metabolic control.
Organic acidurias: assessment of the cataplerotic state in organic acidurias and in septic shock, and evaluation of different anaplerotic molecules to alleviate this cataplerotic state.
Study of the efficacy of a copper nanocluster in a mouse model of Menkes disease
Study of the efficacy of an iron nanocluster in a mouse model of martial deficiency.
Upcoming research :
Study of the efficacy of a manganese nanocluster in certain forms of CDG
Study of the efficacy of leucine supplementation in cellular models of MELAS syndrome (deficiency of the mtDNA leucine transfer gene: mt3243G>A mutation).
Teaching of pediatrics and metabolic diseases at faculty level and in the DIU of hereditary metabolic diseases
Audrey Malarde’s thesis: study of the efficacy of a copper nanocluster in a murine model of menkes’ disease
Noémie Cammiciotto’s thesis: in vitro and in vivo study of cataplerosis in organic acidurias and in a murine model of septic shock
Thesis by Zeinab Alsahly on the efficacy of an iron nanocluster in a murine model of martial deficiency
