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Number of items: 8.

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 (2016). N(8)-acetylspermidine as a potential plasma biomarker for Snyder-Robinson syndrome identified by clinical metabolomics. Journal of Inherited Metabolic Disease, 39(1):131-137.

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 (2016). The value of plasma vitamin B6 profiles in early onset epileptic encephalopathies. Journal of Inherited Metabolic Disease, 39(5):733-741.

Plecko, Barbara; Abela, Lucia (2016). Vitamin B6-abhängige Epilepsien – ein Update. Epileptologie, 33(2):102-109.

Ahting, Uwe; Mayr, Johannes A; Vanlander, Arnaud V; Hardy, Steven A; Santra, Saikat; Makowski, Christine; Alston, Charlotte L; Zimmermann, Franz A; Abela, Lucia; Plecko, Barbara; Rohrbach, Marianne; Spranger, Stephanie; Seneca, Sara; Rolinski, Boris; Hagendorff, Angela; Hempel, Maja; Sperl, Wolfgang; Meitinger, Thomas; Smet, Joél; Taylor, Robert W; Van Coster, Rudy; Freisinger, Peter; Prokisch, Holger; Haack, Tobias B (2015). Clinical, biochemical, and genetic spectrum of seven patients with NFU1 deficiency. Frontiers in Genetics:6:123.

Abela, Lucia; Plecko, Barbara; Palla, Antonella; Burda, Patricie; Nuoffer, Jean-Marc; Ballhausen, Diana; Rohrbach, Marianne (2014). Early co-occurrence of a neurologic-psychiatric disease pattern in Niemann-Pick type C disease: a retrospective Swiss cohort study. Orphanet Journal of Rare Diseases, 9:176.

Plecko, Barbara; Paul, Karl; Mills, Philippa; Clayton, Peter; Paschke, Eduard; Maier, Oliver; Hasselmann, Oswald; Schmiedel, Gudrun; Kanz, Simone; Connolly, Mary; Wolf, Nicole; Struys, Eduard; Stockler, Sylvia; Abela, Lucia; Hofer, Doris (2014). Pyridoxine responsiveness in novel mutations of the PNPO gene. Neurology, 82(16):1425-1433.

Abela, Lucia; Toelle, Sandra P; Hackenberg, Annette; Scheer, Ianina; Güngör, Tayfun; Plecko, Barbara (2013). Fatal outcome of rhino-orbital-cerebral mucormycosis due to bilateral internal carotid occlusion in a child after hematopoietic stem cell transplantation. The Pediatric infectious disease journal, 32(10):1149-1150.

Abela, Lucia; Rushing, Elisabeth Jane; Ares, Carmen; Scheer, Ianina; Bozinov, Oliver; Boltshauser, Eugen; Grotzer, Michael A (2013). Pediatric papillary tumors of the pineal region: to observe or to treat following gross total resection? Child's Nervous System, 29(2):307-310.

This list was generated on Mon Oct 16 22:49:14 2017 CEST.