Search

Author/Creator Abela, Lucia

1. Clinical, radiological, and genetic characteristics of 16 patients with ACO2 gene defects: Delineation of an emerging neurometabolic syndrome. Issue 2 (28th January 2019)

Authors:
Sharkia, Rajech; Wierenga, Klaas J.; Kessel, Amit; Azem, Abdussalam; Bertini, Enrico; Carrozzo, Rosalba; Torraco, Alessandra; Goffrini, Paola; Ceccatelli Berti, Camilla; McCormick, M. Eileen; Plecko, Barbara; Klein, Andrea; Abela, Lucia; Hengel, Holger; Schöls, Ludger; Shalev, Stavit; Khayat, Mor...
Journal:
Journal of inherited metabolic disease
Issue:
Volume 42:Issue 2(2019)
Page Start:
264
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

2. DNAJC6 Mutations Disrupt Dopamine Homeostasis in Juvenile Parkinsonism‐Dystonia. Issue 8 (30th May 2020)

Authors:
Ng, Joanne; Cortès‐Saladelafont, Elisenda; Abela, Lucia; Termsarasab, Pichet; Mankad, Kshitij; Sudhakar, Sniya; Gorman, Kathleen M.; Heales, Simon J.R.; Pope, Simon; Biassoni, Lorenzo; Csányi, Barbara; Cain, John; Rakshi, Karl; Coutts, Helen; Jayawant, Sandeep; Jefferson, Rosalind; Hughes, Debora...
Journal:
Movement disorders
Issue:
Volume 35:Issue 8(2020)
Page Start:
1357
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

3. Metabolomics analysis of antiquitin deficiency in cultured human cells and plasma: Relevance to pyridoxine‐dependent epilepsy. Issue 1 (27th October 2022)

Authors:
Crowther, Lisa M.; Poms, Martin; Zandl‐Lang, Martina; Abela, Lucia; Hartmann, Hans; Seiler, Michelle; Mathis, Déborah; Plecko, Barbara
Journal:
Journal of inherited metabolic disease
Issue:
Volume 46:Issue 1(2023)
Page Start:
129
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

4. N8‐acetylspermidine as a potential plasma biomarker for Snyder‐Robinson syndrome identified by clinical metabolomics. Issue 1 (15th July 2015)

Authors:
Abela, Lucia; Simmons, Luke; Steindl, Katharina; Schmitt, Bernhard; Mastrangelo, Massimo; Joset, Pascal; Papuc, Mihaela; Sticht, Heinrich; Baumer, Alessandra; Crowther, Lisa M.; Mathis, Déborah; Rauch, Anita; Plecko, Barbara
Journal:
Journal of inherited metabolic disease
Issue:
Volume 39:Issue 1(2016)
Page Start:
131
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

6. The value of plasma vitamin B6 profiles in early onset epileptic encephalopathies. Issue 5 (24th June 2016)

Authors:
Mathis, Déborah; Abela, Lucia; Albersen, Monique; Bürer, Céline; Crowther, Lisa; Beese, Karin; Hartmann, Hans; Bok, Levinus A.; Struys, Eduard; Papuc, Sorina M.; Rauch, Anita; Hersberger, Martin; Verhoeven‐Duif, Nanda M.; Plecko, Barbara
Journal:
Journal of inherited metabolic disease
Issue:
Volume 39:Issue 5(2016)
Page Start:
733
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗