1. Binding of heparan sulfate to human cystatin C modulates inhibition of cathepsin L: Putative consequences in mucopolysaccharidosis. (1st October 2022) Authors: Denamur, Sophie; Chazeirat, Thibault; Maszota-Zieleniak, Martyna; Vivès, Romain R.; Saidi, Ahlame; Zhang, Fuming; Linhardt, Robert J.; Labarthe, François; Samsonov, Sergey A.; Lalmanach, Gilles; Lecaille, Fabien Journal: Carbohydrate polymers Issue: Volume 293(2022) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Clinical, laboratory and molecular findings and long-term follow-up data in 96 French patients with PMM2-CDG (phosphomannomutase 2-congenital disorder of glycosylation) and review of the literature. Issue 12 (27th September 2017) Authors: Schiff, Manuel; Roda, Céline; Monin, Marie-Lorraine; Arion, Alina; Barth, Magali; Bednarek, Nathalie; Bidet, Maud; Bloch, Catherine; Boddaert, Nathalie; Borgel, Delphine; Brassier, Anaïs; Brice, Alexis; Bruneel, Arnaud; Buissonnière, Roger; Chabrol, Brigitte; Chevalier, Marie-Chantal; Cormier-Dai... Journal: Journal of medical genetics Issue: Volume 54:Issue 12(2017) Page Start: 843 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. 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) ↗
4. 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) ↗
5. 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) ↗
6. Fructose‐1, 6‐bisphosphatase deficiency causes fatty liver disease and requires long‐term hepatic follow‐up. Issue 2 (1st December 2021) Authors: Gorce, Magali; Lebigot, Elise; Arion, Alina; Brassier, Anaïs; Cano, Aline; De Lonlay, Pascale; Feillet, François; Gay, Claire; Labarthe, François; Nassogne, Marie‐Cécile; Roche, Sandrine; Roubertie, Agathe; Sacaze, Elise; Touati, Guy; Broué, Pierre Journal: Journal of inherited metabolic disease Issue: Volume 45:Issue 2(2022) Page Start: 215 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Genotype-phenotype associations in French patients with phenylketonuria and importance of genotype for full assessment of tetrahydrobiopterin responsiveness. Issue 1 (December 2015) Authors: Jeannesson-Thivisol, Elise; Feillet, François; Chéry, Céline; Perrin, Pascal; Battaglia-Hsu, Shyue-Fang; Herbeth, Bernard; Cano, Aline; Barth, Magalie; Fouilhoux, Alain; Mention, Karine; Labarthe, François; Arnoux, Jean-Baptiste; Maillot, François; Lenaerts, Catherine; Dumesnil, Cécile; Wagner, K... Journal: Orphanet journal of rare diseases Issue: Volume 9:Issue 1(2014) Page Start: 1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Lability of IgE Levels Early in Life. (20th June 2011) Authors: N'guessan, Koffi; Ternant, David; Labarthe, François; Watier, Hervé Other Names: Wood Robert A. Academic Editor. Journal: Journal of allergy Issue: Volume 2011(2011) Page Start: 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. Recommended respiratory tests are not routinely performed for mucopolysaccharidosis patients. Issue 1 (7th February 2021) Authors: Denamur, Sophie; Touati, Guy; Debelleix, Stéphane; Damaj, Léna; Barth, Magalie; Tardieu, Marine; Gorce, Magali; Broué, Pierre; Lacombe, Didier; Labarthe, François Journal: ERJ open research Issue: Volume 8:Issue 1(2022) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗