1. Argininosuccinic aciduria: Recent pathophysiological insights and therapeutic prospects. Issue 6 (5th February 2019) Authors: Baruteau, Julien; Diez‐Fernandez, Carmen; Lerner, Shaul; Ranucci, Giusy; Gissen, Paul; Dionisi‐Vici, Carlo; Nagamani, Sandesh; Erez, Ayelet; Häberle, Johannes Journal: Journal of inherited metabolic disease Issue: Volume 42:Issue 6(2019) Page Start: 1147 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Beclin‐1‐mediated activation of autophagy improves proximal and distal urea cycle disorders. Issue 2 (28th December 2020) Authors: Soria, Leandro R; Gurung, Sonam; De Sabbata, Giulia; Perocheau, Dany P; De Angelis, Angela; Bruno, Gemma; Polishchuk, Elena; Paris, Debora; Cuomo, Paola; Motta, Andrea; Orford, Michael; Khalil, Youssef; Eaton, Simon; Mills, Philippa B; Waddington, Simon N; Settembre, Carmine; Muro, Andrés F; Baru... Journal: EMBO molecular medicine Issue: Volume 13:Issue 2(2021) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Carglumic acid enhances rapid ammonia detoxification in classical organic acidurias with a favourable risk-benefit profile: a retrospective observational study. Issue 1 (December 2016) Authors: Valayannopoulos, Vassili; Baruteau, Julien; Delgado, Maria; Cano, Aline; Couce, Maria; Del Toro, Mireia; Donati, Maria; Garcia-Cazorla, Angeles; Gil-Ortega, David; Gomez-de Quero, Pedro; Guffon, Nathalie; Hofstede, Floris; Kalkan-Ucar, Sema; Coker, Mahmut; Lama-More, Rosa; Martinez-Pardo Casanova... Journal: Orphanet journal of rare diseases Issue: Volume 11:Issue 1(2016) Page Start: 1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Clinical and biological features at diagnosis in mitochondrial fatty acid beta‐oxidation defects: a French pediatric study from 187 patients. Complementary data. Issue 1 (27th June 2013) Authors: Baruteau, Julien; Sachs, Philippe; Broué, Pierre; Brivet, Michele; Abdoul, Hendy; Vianey‐Saban, Christine; Ogier de Baulny, Hélène Journal: Journal of inherited metabolic disease Issue: Volume 37:Issue 1(2014) Page Start: 137 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Clinical and biological features at diagnosis in mitochondrial fatty acid beta‐oxidation defects: a French pediatric study of 187 patients. Issue 5 (3rd October 2012) Authors: Baruteau, Julien; Sachs, Philippe; Broué, Pierre; Brivet, Michèle; Abdoul, Hendy; Vianey‐Saban, Christine; Ogier de Baulny, Hélène Journal: Journal of inherited metabolic disease Issue: Volume 36:Issue 5(2013) Page Start: 795 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Clinical applications for exosomes: Are we there yet?. (3rd May 2021) Authors: Perocheau, Dany; Touramanidou, Loukia; Gurung, Sonam; Gissen, Paul; Baruteau, Julien Journal: British journal of pharmacology Issue: Volume 178:Number 12(2021) Page Start: 2375 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Direct replacement of oral sodium benzoate with glycerol phenylbutyrate in children with urea cycle disorders. Issue 2 (2nd February 2022) Authors: Yeo, Mildrid; Rehsi, Preeya; Dorman, Megan; Grunewald, Stephanie; Baruteau, Julien; Chakrapani, Anupam; Footitt, Emma; Prunty, Helen; McSweeney, Melanie Journal: JIMD reports Issue: Volume 63:Issue 2(2022) Page Start: 137 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Disentangling molecular and clinical stratification patterns in beta-galactosidase deficiency. Issue 4 (18th March 2021) Authors: Tebani, Abdellah; Sudrié-Arnaud, Bénédicte; Dabaj, Ivana; Torre, Stéphanie; Domitille, Laur; Snanoudj, Sarah; Heron, Benedicte; Levade, Thierry; Caillaud, Catherine; Vergnaud, Sabrina; Saugier-Veber, Pascale; Coutant, Sophie; Dranguet, Hélène; Froissart, Roseline; Al Khouri, Majed; Alembik, Yves;... Journal: Journal of medical genetics Issue: Volume 59:Issue 4(2022) Page Start: 377 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Expanding the phenotype in argininosuccinic aciduria: need for new therapies. Issue 3 (1st March 2017) Authors: Baruteau, Julien; Jameson, Elisabeth; Morris, Andrew A.; Chakrapani, Anupam; Santra, Saikat; Vijay, Suresh; Kocadag, Huriye; Beesley, Clare E.; Grunewald, Stephanie; Murphy, Elaine; Cleary, Maureen; Mundy, Helen; Abulhoul, Lara; Broomfield, Alexander; Lachmann, Robin; Rahman, Yusof; Robinson, Pet... Journal: Journal of inherited metabolic disease Issue: Volume 40:Issue 3(2017) Page Start: 357 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Fetal gene therapy for neurodegenerative lysosomal storage diseases. Issue 3 (4th February 2019) Authors: Baruteau, Julien; Waddington, Simon N. Journal: Journal of inherited metabolic disease Issue: Volume 42:Issue 3(2019) Page Start: 391 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗