1. An unfortunate challenge: Ketogenic diet for the treatment of Lennox–Gastaut syndrome in tyrosinemia type 1. (July 2016) Authors: De Lucia, Silvana; Pichard, Samia; Ilea, Adina; Greneche, Marie-Odile; François, Laurent; Delanoë, Catherine; Schiff, Manuel; Auvin, Stéphane Journal: European journal of paediatric neurology Issue: Volume 20:Number 4(2016:Jul.) Page Start: 674 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. 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) ↗
3. Cerliponase alfa changes the natural history of children with neuronal ceroid lipofuscinosis type 2: The first French cohort. (January 2021) Authors: Estublier, Bastien; Cano, Aline; Hoebeke, Célia; Pichard, Samia; Scavarda, Didier; Desguerre, Isabelle; Auvin, Stéphane; Chabrol, Brigitte Journal: European journal of paediatric neurology Issue: Volume 30(2021) Page Start: 17 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. 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) ↗
5. Effect of alglucosidase alfa dosage on survival and walking ability in patients with classic infantile Pompe disease: a multicentre observational cohort study from the European Pompe Consortium. (January 2022) Authors: Ditters, Imke Anne Maartje; Huidekoper, Hidde Harmen; Kruijshaar, Michelle Elisabeth; Rizopoulos, Dimitris; Hahn, Andreas; Mongini, Tiziana Enrica; Labarthe, François; Tardieu, Marine; Chabrol, Brigitte; Brassier, Anais; Parini, Rossella; Parenti, Giancarlo; van der Beek, Nadine Anna Maria Elisab... Journal: Lancet Issue: Volume 6:Number 1(2022) Page Start: 28 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Expanding and Underscoring the Hepato‐Encephalopathic Phenotype of QIL1/MIC13. Issue 3 (16th May 2019) Authors: Russell, Bianca E.; Whaley, Kaitlin G.; Bove, Kevin E.; Labilloy, Anatalia; Lombardo, Rachel C.; Hopkin, Robert J.; Leslie, Nancy D.; Prada, Carlos; Assouline, Zahra; Barcia, Giulia; Bouchereau, Juliette; Chomton, Maryline; Debray, Dominique; Dorboz, Imen; Durand, Philippe; Gaignard, Pauline; Hab... Journal: Hepatology Issue: Volume 70:Issue 3(2019) Page Start: 1066 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. LC-MS/MS Identification of Prolidase Deficiency: A Rare Cause of Infantile Hepatosplenomegaly. (26th February 2022) Authors: Taibi, Ludmia; Schlemmer, Dimitri; Bouchereau, Juliette; Causson, Claudine; Pichard, Samia; Bourrat, Emmanuelle; Melki, Isabelle; Schiff, Manuel; Benoist, Jean-François; Imbard, Apolline Journal: Clinical chemistry Issue: Volume 68:Number 3(2022) Page Start: 478 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Limited benefits of presymptomatic cord blood transplantation in neurovisceral acid sphingomyelinase deficiency (ASMD) intermediate type. (November 2017) Authors: Mercati, Oriane; Pichard, Samia; Ouachée, Marie; Froissart, Roseline; Fenneteau, Odile; Roche, Bastien; Elmaleh-Bergès, Monique; Bertrand, Yves; Ogier de Baulny, Hélène; Vanier, Marie T.; Schiff, Manuel Journal: European journal of paediatric neurology Issue: Volume 21:Number 6(2017:Nov.) Page Start: 907 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Mitochondrial acetoacetyl‐CoA thiolase deficiency: basal ganglia impairment may occur independently of ketoacidosis. Issue 3 (2nd March 2017) Authors: Paquay, Stéphanie; Bourillon, Agnès; Pichard, Samia; Benoist, Jean‐François; de Lonlay, Pascale; Dobbelaere, Dries; Fouilhoux, Alain; Guffon, Nathalie; Rouvet, Isabelle; Labarthe, François; Mention, Karine; Touati, Guy; Valayannopoulos, Vassili; Ogier de Baulny, Hélène; Elmaleh‐Bergès, Monique; A... Journal: Journal of inherited metabolic disease Issue: Volume 40:Issue 3(2017) Page Start: 415 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Neurocognitive profiles in MSUD school‐age patients. Issue 3 (21st March 2017) Authors: Bouchereau, Juliette; Leduc‐Leballeur, Julie; Pichard, Samia; Imbard, Apolline; Benoist, Jean‐François; Abi Warde, Marie‐Thérèse; Arnoux, Jean‐Baptiste; Barbier, Valérie; Brassier, Anaïs; Broué, Pierre; Cano, Aline; Chabrol, Brigitte; Damon, Gilles; Gay, Claire; Guillain, Isabelle; Habarou, Flore... Journal: Journal of inherited metabolic disease Issue: Volume 40:Issue 3(2017) Page Start: 377 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗