Raphaël Teissier

  • Citations Per Year
Learn More
Malformations and mental retardation in the offspring of women with Phenylketonuria (PKU) can be prevented by maintaining maternal blood Phenylalanine (PHE) within a target range (120–300 μmol/L) through a PHE-restricted diet. In a former French study, a high and unexpected proportion of intra uterine growth retardation (IUGR) has been reported. Guidelines(More)
Pseudohypoaldosteronism type 1 (PHA1) is a rare genetic disease of mineralocorticoid resistance characterized by salt wasting and failure to thrive in infancy. Here we describe the first case of a newborn with severe recessive PHA1 caused by two heterozygous mutations in NR3C2, gene coding for the mineralocorticoid receptor (MR). Independent segregation of(More)
Carney complex (CNC, OMIM 160980) is a rare dominantly inherited syndrome characterized by the presence of skin pigmentation, myxomas and endocrine tumors. Two-thirds of patients are found to have an inactivating heterozygous germline mutation of the PRKAR1A gene, which encodes the R1alpha regulatory subunit of cyclic-Amp-dependent protein kinase A (1).(More)
UNLABELLED French guidelines do not recommend systematic supplementation of vitamin D in children aged 5-10 years old owing to the lack of data on vitamin D status in this age group. Our objective was to assess the prevalence of vitamin D deficiency in these children. METHODOLOGY Single-center, prospective, epidemiological study including 358 children(More)
  • 1