1. Adenosine kinase deficiency: expanding the clinical spectrum and evaluating therapeutic options. Issue 2 (7th December 2015) Authors: Staufner, Christian; Lindner, Martin; Dionisi‐Vici, Carlo; Freisinger, Peter; Dobbelaere, Dries; Douillard, Claire; Makhseed, Nawal; Straub, Beate K.; Kahrizi, Kimia; Ballhausen, Diana; la Marca, Giancarlo; Kölker, Stefan; Haas, Dorothea; Hoffmann, Georg F.; Grünert, Sarah C.; Blom, Henk J. Journal: Journal of inherited metabolic disease Issue: Volume 39:Issue 2(2016) Page Start: 273 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Age at disease onset and peak ammonium level rather than interventional variables predict the neurological outcome in urea cycle disorders. Issue 5 (22nd April 2016) Authors: Posset, Roland; Garcia‐Cazorla, Angeles; Valayannopoulos, Vassili; Teles, Elisa Leão; Dionisi‐Vici, Carlo; Brassier, Anaïs; Burlina, Alberto B.; Burgard, Peter; Cortès‐Saladelafont, Elisenda; Dobbelaere, Dries; Couce, Maria L.; Sykut‐Cegielska, Jolanta; Häberle, Johannes; Lund, Allan M.; Chakrapa... Journal: Journal of inherited metabolic disease Issue: Volume 39:Issue 5(2016) Page Start: 661 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Clinical pattern, mutations and in vitro residual activity in 33 patients with severe 5, 10 methylenetetrahydrofolate reductase (MTHFR) deficiency. Issue 1 (30th May 2015) Authors: Huemer, Martina; Mulder‐Bleile, Regina; Burda, Patricie; Froese, D. Sean; Suormala, Terttu; Zeev, Bruria Ben; Chinnery, Patrick F.; Dionisi‐Vici, Carlo; Dobbelaere, Dries; Gökcay, Gülden; Demirkol, Mübeccel; Häberle, Johannes; Lossos, Alexander; Mengel, Eugen; Morris, Andrew A.; Niezen‐Koning, Kl... Journal: Journal of inherited metabolic disease Issue: Volume 39:Issue 1(2016) Page Start: 115 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Consensus recommendations for the diagnosis, treatment and follow‐up of inherited methylation disorders. Issue 1 (26th September 2016) Authors: Barić, Ivo; Staufner, Christian; Augoustides‐Savvopoulou, Persephone; Chien, Yin‐Hsiu; Dobbelaere, Dries; Grünert, Sarah C.; Opladen, Thomas; Petković Ramadža, Danijela; Rakić, Bojana; Wedell, Anna; Blom, Henk J. Journal: Journal of inherited metabolic disease Issue: Volume 40:Issue 1(2017) Page Start: 5 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Correction to: Age at disease onset and peak ammonium level rather than interventional variables predict the neurological outcome in urea cycle disorders. Issue 4 (12th January 2018) Authors: Posset, Roland; Garcia‐Cazorla, Angeles; Valayannopoulos, Vassili; Leão Teles, Elisa; Dionisi‐Vici, Carlo; Brassier, Anaïs; Burlina, Alberto B.; Burgard, Peter; Cortès‐Saladelafont, Elisenda; Dobbelaere, Dries; Couce, Maria L.; Sykut‐Cegielska, Jolanta; Häberle, Johannes; Lund, Allan M.; Chakrapa... Journal: Journal of inherited metabolic disease Issue: Volume 41:Issue 4(2018) Page Start: 743 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Doubling diet fat on sugar ratio in children with mitochondrial OXPHOS disorders: Effects of a randomized trial on resting energy expenditure, diet induced thermogenesis and body composition. Issue 6 (December 2016) Authors: Béghin, Laurent; Coopman, Stéphanie; Schiff, Manuel; Vamecq, Joseph; Mention-Mulliez, Karine; Hankard, Régis; Cuisset, Jean-Marie; Ogier, Hélène; Gottrand, Frédéric; Dobbelaere, Dries Journal: Clinical nutrition Issue: Volume 35:Issue 6(2016:Dec.) Page Start: 1414 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. 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) ↗
8. Efficacy and safety of i.v. sodium benzoate in urea cycle disorders: a multicentre retrospective study. Issue 1 (December 2016) Authors: Husson, Marie-Caroline; Schiff, Manuel; Fouilhoux, Alain; Cano, Aline; Dobbelaere, Dries; Brassier, Anais; Mention, Karine; Arnoux, Jean-Baptiste; Feillet, François; Chabrol, Brigitte; Guffon, Nathalie; Elie, Caroline; de Lonlay, Pascale 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) ↗
9. Erratum to: The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation. Issue 6 (16th June 2015) Authors: Kölker, Stefan; Cazorla, Angeles Garcia; Valayannopoulos, Vassili; Lund, Allan M.; Burlina, Alberto B.; Sykut‐Cegielska, Jolanta; Wijburg, Frits A.; Teles, Elisa Leão; Zeman, Jiri; Dionisi‐Vici, Carlo; Barić, Ivo; Karall, Daniela; Augoustides‐Savvopoulou, Persephone; Aksglaede, Lise; Arnoux, Jean... Journal: Journal of inherited metabolic disease Issue: Volume 38:Issue 6(2015) Page Start: 1155 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Erratum to: The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype. Issue 6 (16th June 2015) Authors: Kölker, Stefan; Valayannopoulos, Vassili; Burlina, Alberto B.; Sykut‐Cegielska, Jolanta; Wijburg, Frits A.; Teles, Elisa Leão; Zeman, Jiri; Dionisi‐Vici, Carlo; Barić, Ivo; Karall, Daniela; Arnoux, Jean‐Baptiste; Avram, Paula; Baumgartner, Matthias R.; Blasco‐Alonso, Javier; Boy, S. P. Nikolas; R... Journal: Journal of inherited metabolic disease Issue: Volume 38:Issue 6(2015) Page Start: 1157 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗