1. Multisystem involvement, defective lysosomes and impaired autophagy in a novel rat model of nephropathic cystinosis. Issue 13 (8th February 2022) Authors: Krohn, Patrick; Rega, Laura Rita; Harvent, Marianne; Festa, Beatrice Paola; Taranta, Anna; Luciani, Alessandro; Dewulf, Joseph; Cremonesi, Alessio; Camassei, Francesca Diomedi; Hanson, James V M; Gerth-Kahlert, Christina; Emma, Francesco; Berquez, Marine; Devuyst, Olivier Journal: Human molecular genetics Issue: Volume 31:Issue 13(2022) Page Start: 2262 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Real-Time Quantification of Amino Acids in the Exhalome by Secondary Electrospray Ionization–Mass Spectrometry: A Proof-of-Principle Study. (6th January 2020) Authors: García-Gómez, Diego; Gaisl, Thomas; Bregy, Lukas; Cremonesi, Alessio; Sinues, Pablo Martinez-Lozano; Kohler, Malcolm; Zenobi, Renato Journal: Clinical chemistry Issue: Volume 62:Number 9(2016) Page Start: 1230 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Recovery of enzyme activity in biotinidase deficient individuals during early childhood. Issue 3 (3rd March 2022) Authors: Forny, Patrick; Wicht, Andrea; Rüfenacht, Véronique; Cremonesi, Alessio; Häberle, Johannes Journal: Journal of inherited metabolic disease Issue: Volume 45:Issue 3(2022) Page Start: 605 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Risk of neonatal hypothyroidism in newborns from mothers exposed to CTPA during pregnancy: Ancillary data from a prospective outcome study. (28th August 2022) Authors: Righini, Marc; Robert‐Ebadi, Helia; Cremonesi, Alessio; Elias, Antoine; Sanchez, Olivier; Le Moigne, Emmanuelle; Schmidt, Jeannot; Le Gall, Catherine; Cornuz, Jacques; Aujesky, Drahomir; Roy, Pierre‐Marie; Chauleur, Céline; Rouyer, Frédéric; Poletti, Pierre‐Alexandre; Moreau, Caroline; Le Gal, Gr... Journal: Journal of thrombosis and haemostasis Issue: Volume 20:Number 11(2022) Page Start: 2550 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗