Helene Ogier de Baulny
- Management and emergency treatments of neonates with a suspicion of inborn errors of metabolismHelene Ogier de Baulny
Neurology and Metabolic Diseases Unit, Hopital Robert Debre, Paris, France
Semin Neonatol 7:17-26. 2002..Patients presenting with intractable convulsions, vitamin responsiveness to biotin, pyridoxine and folate must be considered...
- Branched-chain organic aciduriasH Ogier de Baulny
Service de Neuropediatrie, Maladies Metaboliques, Hopital Robert Debre, Paris, France
Semin Neonatol 7:65-74. 2002..These disorders are amenable to treatment by removing toxic compounds and by using special diets and carnitine...
- Methylmalonic and propionic acidaemias: management and outcomeH Ogier de Baulny
Hopital Robert Debre, Paris, France
J Inherit Metab Dis 28:415-23. 2005..These results emphasize the need for permanent metabolic follow-up whatever the therapeutic strategy...
- Transient neonatal renal failure and massive polyuria in MEGDEL syndromeCarole Harbulot
Child Neurology, Hopital Robert Debre, APHP, Paris, France
Mol Genet Metab Rep 7:8-10. 2016..MEGDEL (3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome) syndrome is a mitochondrial disorder associated with recessive mutations in SERAC1...
- Neuropsychiatric disturbances in presumed late-onset cobalamin C diseaseEmmanuel Roze
Service de Neurologie 1, Groupe Hospitalier Pitie Salpetriere, Paris, France
Arch Neurol 60:1457-62. 2003..Most patients present in the first year of life with systemic, hematological, and neurological abnormalities. Late-onset forms are rare and had not been comprehensively characterized. They could be easily misdiagnosed...