1. Diagnostic approach to neurotransmitter monoamine disorders: experience from clinical, biochemical, and genetic profiles. Issue 1 (18th September 2017) Authors: Kuster, Alice; Arnoux, Jean‐Baptiste; Barth, Magalie; Lamireau, Delphine; Houcinat, Nada; Goizet, Cyril; Doray, Bérénice; Gobin, Stéphanie; Schiff, Manuel; Cano, Aline; Amsallem, Daniel; Barnerias, Christine; Chaumette, Boris; Plaze, Marion; Slama, Abdelhamid; Ioos, Christine; Desguerre, Isabelle... Journal: Journal of inherited metabolic disease Issue: Volume 41:Issue 1(2018) Page Start: 129 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. 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) ↗
3. Dystonia as a prominent presenting feature in developmental and epileptic encephalopathies: A case series. (September 2021) Authors: Dzinovic, Ivana; Škorvánek, Matej; Necpál, Ján; Boesch, Sylvia; Švantnerová, Jana; Wagner, Matias; Havránková, Petra; Pavelekova, Petra; Haň, Vladimír; Janzarik, Wibke G.; Berweck, Steffen; Diebold, Isabel; Kuster, Alice; Jech, Robert; Winkelmann, Juliane; Zech, Michael Journal: Parkinsonism & related disorders Issue: Volume 90(2021) Page Start: 73 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. 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) ↗
6. Integrative Approach to Predict Severity in Nonketotic Hyperglycinemia. Issue 2 (16th June 2022) Authors: Hübschmann, Oya Kuseyri; Juliá‐Palacios, Natalia Alexandra; Olivella, Mireia; Guder, Philipp; Zafeiriou, Dimitrios I.; Horvath, Gabriella; Kulhánek, Jan; Pearson, Toni S.; Kuster, Alice; Cortès‐Saladelafont, Elisenda; Ibáñez, Salvador; García‐Jiménez, Maria Concepción; Honzík, Tomáš; Santer, René... Journal: Annals of neurology Issue: Volume 92:Issue 2(2022) Page Start: 292 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Long term outcome of MPI‐CDG patients on D‐mannose therapy. Issue 6 (9th August 2020) Authors: Girard, Muriel; Douillard, Claire; Debray, Dominique; Lacaille, Florence; Schiff, Manuel; Vuillaumier‐Barrot, Sandrine; Dupré, Thierry; Fabre, Monique; Damaj, Lena; Kuster, Alice; Torre, Stéphanie; Mention, Karine; McLin, Valérie; Dobbelaere, Dries; Borgel, Delphine; Bauchard, Eric; Seta, Nathali... Journal: Journal of inherited metabolic disease Issue: Volume 43:Issue 6(2020) Page Start: 1360 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Monogenic variants in dystonia: an exome-wide sequencing study. Issue 11 (November 2020) Authors: Zech, Michael; Jech, Robert; Boesch, Sylvia; Škorvánek, Matej; Weber, Sandrina; Wagner, Matias; Zhao, Chen; Jochim, Angela; Necpál, Ján; Dincer, Yasemin; Vill, Katharina; Distelmaier, Felix; Stoklosa, Malgorzata; Krenn, Martin; Grunwald, Stephan; Bock-Bierbaum, Tobias; Fečíková, Anna; Havránková,... Journal: Lancet neurology Issue: Volume 19:Issue 11(2020) Page Start: 908 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Pathogenic variants in SQOR encoding sulfide:quinone oxidoreductase are a potentially treatable cause of Leigh disease. Issue 5 (15th April 2020) Authors: Friederich, Marisa W.; Elias, Abdallah F.; Kuster, Alice; Laugwitz, Lucia; Larson, Austin A.; Landry, Aaron P.; Ellwood‐Digel, Logan; Mirsky, David M.; Dimmock, David; Haven, Jaclyn; Jiang, Hua; MacLean, Kenneth N.; Styren, Katie; Schoof, Jonathan; Goujon, Louise; Lefrancois, Thomas; Friederich, ... Journal: Journal of inherited metabolic disease Issue: Volume 43:Issue 5(2020) Page Start: 1024 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Recurrent acute liver failure due to NBAS deficiency: phenotypic spectrum, disease mechanisms, and therapeutic concepts. Issue 1 (5th November 2015) Authors: Staufner, Christian; Haack, Tobias B.; Köpke, Marlies G.; Straub, Beate K.; Kölker, Stefan; Thiel, Christian; Freisinger, Peter; Baric, Ivo; McKiernan, Patrick J.; Dikow, Nicola; Harting, Inga; Beisse, Flemming; Burgard, Peter; Kotzaeridou, Urania; Lenz, Dominic; Kühr, Joachim; Himbert, Urban; Ta... Journal: Journal of inherited metabolic disease Issue: Volume 39:Issue 1(2016) Page Start: 3 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗