1. Clinical and molecular characterization of adult patients with late‐onset MTHFR deficiency. Issue 3 (2nd November 2020) Authors: Marelli, Cecilia; Lavigne, Christian; Stepien, Karolina M.; Janssen, Mirian C. H.; Feillet, Francois; Kožich, Viktor; Jesina, Pavel; Schule, Rebecca; Kessler, Christoph; Redonnet‐Vernhet, Isabelle; Regnier, Adeline; Burda, Patricie; Baumgartner, Matthias; Benoist, Jean‐Francois; Huemer, Martina; ... Journal: Journal of inherited metabolic disease Issue: Volume 44:Issue 3(2021) Page Start: 777 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Issues with European guidelines for phenylketonuria – Authors' reply. Issue 9 (September 2017) Authors: van Spronsen, Francjan J; van Wegberg, Annemiek M J; Ahring, Kirsten; Bélanger-Quintana, Amaya; Blau, Nenad; Bosch, Annet M; Burlina, Alberto; Campistol, Jaime; Feillet, Francois; Giżewska, Maria; Huijbregts, Stephan C; Kearney, Shauna; Leuzzi, Vincenzo; Maillot, Francois; Muntau, Ania C; Trefz, ... Journal: Lancet Issue: Volume 5:Issue 9(2017) Page Start: 683 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Key European guidelines for the diagnosis and management of patients with phenylketonuria. Issue 9 (September 2017) Authors: van Spronsen, Francjan J; van Wegberg, Annemiek MJ; Ahring, Kirsten; Bélanger-Quintana, Amaya; Blau, Nenad; Bosch, Annet M; Burlina, Alberto; Campistol, Jaime; Feillet, Francois; Giżewska, Maria; Huijbregts, Stephan C; Kearney, Shauna; Leuzzi, Vincenzo; Maillot, Francois; Muntau, Ania C; Trefz, F... Journal: Lancet Issue: Volume 5:Issue 9(2017) Page Start: 743 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Quantification of the methylation at the GNAS locus identifies subtypes of sporadic pseudohypoparathyroidism type Ib. Issue 1 (23rd October 2010) Authors: Maupetit-Méhouas, Stéphanie; Mariot, Virginie; Reynès, Christelle; Bertrand, Guylène; Feillet, Francois; Carel, Jean-Claude; Simon, Dominique; Bihan, Hélène; Gajdos, Vincent; Devouge, Eve; Shenoy, Savitha; Agbo-Kpati, Placide; Ronan, Anne; Naud-Saudreau, Catherine; Lienhardt, Anne; Silve, Carolin... Journal: Journal of medical genetics Issue: Volume 48:Issue 1(2011) Page Start: 55 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Vitamin D–Dependent Rickets Type 1B (25‐Hydroxylase Deficiency): A Rare Condition or a Misdiagnosed Condition?. (13th July 2017) Authors: Molin, Arnaud; Wiedemann, Arnaud; Demers, Nick; Kaufmann, Martin; Do Cao, Jérémy; Mainard, Laurent; Dousset, Brigitte; Journeau, Pierre; Abeguile, Geneviève; Coudray, Nadia; Mittre, Hervé; Richard, Nicolas; Weryha, Georges; Sorlin, Arthur; Jones, Glenville; Kottler, Marie‐Laure; Feillet, Francois Journal: Journal of bone and mineral research Issue: Volume 32:Number 9(2017:Sep.) Page Start: 1893 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗