1. 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) ↗
2. Bone disease in early detected Gaucher Type I disease: A case report. Issue 5 (26th June 2022) Authors: Gragnaniello, Vincenza; Burlina, Alessandro P.; Manara, Renzo; Cazzorla, Chiara; Rubert, Laura; Gueraldi, Daniela; Toniolli, Ermanno; Quaia, Emilio; Burlina, Alberto B. Journal: JIMD reports Issue: Volume 63:Issue 5(2022) Page Start: 414 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1. (16th January 2015) Authors: Crow, Yanick J.; Chase, Diana S.; Lowenstein Schmidt, Johanna; Szynkiewicz, Marcin; Forte, Gabriella M.A.; Gornall, Hannah L.; Oojageer, Anthony; Anderson, Beverley; Pizzino, Amy; Helman, Guy; Abdel‐Hamid, Mohamed S.; Abdel‐Salam, Ghada M.; Ackroyd, Sam; Aeby, Alec; Agosta, Guillermo; Albin, Cath... Journal: American journal of medical genetics Issue: Volume 167:Number 2(2015:Feb.) Page Start: 296 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Clinical presentation and outcome in a series of 88 patients with the cblC defect. Issue 5 (6th March 2014) Authors: Fischer, Sabine; Huemer, Martina; Baumgartner, Matthias; Deodato, Federica; Ballhausen, Diana; Boneh, Avihu; Burlina, Alberto B.; Cerone, Roberto; Garcia, Paula; Gökçay, Gülden; Grünewald, Stephanie; Häberle, Johannes; Jaeken, Jaak; Ketteridge, David; Lindner, Martin; Mandel, Hanna; Martinelli, D... Journal: Journal of inherited metabolic disease Issue: Volume 37:Issue 5(2014) Page Start: 831 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. Correction to: Impact of age at onset and newborn screening on outcome in organic acidurias. Issue 4 (12th December 2017) Authors: Heringer, Jana; Valayannopoulos, Vassili; Lund, Allan M.; Wijburg, Frits A.; Freisinger, Peter; Barić, Ivo; Baumgartner, Matthias R.; Burgard, Peter; Burlina, Alberto B.; Chapman, Kimberly A.; i Saladelafont, Elisenda Cortès; Karall, Daniela; Mühlhausen, Chris; Riches, Victoria; Schiff, Manuel; S... Journal: Journal of inherited metabolic disease Issue: Volume 41:Issue 4(2018) Page Start: 741 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. 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) ↗
8. 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) ↗
9. Impact of age at onset and newborn screening on outcome in organic acidurias. Issue 3 (21st December 2015) Authors: Heringer, Jana; Valayannopoulos, Vassili; Lund, Allan M.; Wijburg, Frits A.; Freisinger, Peter; Barić, Ivo; Baumgartner, Matthias R.; Burgard, Peter; Burlina, Alberto B.; Chapman, Kimberly A.; i Saladelafont, Elisenda Cortès; Karall, Daniela; Mühlhausen, Chris; Riches, Victoria; Schiff, Manuel; S... Journal: Journal of inherited metabolic disease Issue: Volume 39:Issue 3(2016) Page Start: 341 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Inherited hyperammonemias: a Contemporary view on pathogenesis and diagnosis. (1st February 2018) Authors: Maines, Evelina; Piccoli, Giovanni; Pascarella, Antonia; Colucci, Francesca; Burlina, Alberto B. Journal: Expert opinion on orphan drugs Issue: Volume 6:Number 2(2018) Page Start: 105 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗