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1 Ergebnisse
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PLPHP deficiency: clinical, genetic, biochemical, and mecha..:
Johnstone, Devon L
;
Al-Shekaili, Hilal H
;
Tarailo-Graovac, Maja
...
qt235891bk. , 2019
Link:
https://escholarship.org/uc/item/235891bk
RT Journal T1
PLPHP deficiency: clinical, genetic, biochemical, and mechanistic insights
UL https://suche.suub.uni-bremen.de/peid=base-ftcdlib:oai:escholarship.org:ark:_13030_qt235891bk&Exemplar=1&LAN=DE A1 Johnstone, Devon L A1 Al-Shekaili, Hilal H A1 Tarailo-Graovac, Maja A1 Wolf, Nicole I A1 Ivy, Autumn S A1 Demarest, Scott A1 Roussel, Yann A1 Ciapaite, Jolita A1 van Roermund, Carlo WT A1 Kernohan, Kristin D A1 Kosuta, Ceres A1 Ban, Kevin A1 Ito, Yoko A1 McBride, Skye A1 Al-Thihli, Khalid A1 Abdelrahim, Rana A A1 Koul, Roshan A1 Al Futaisi, Amna A1 Haaxma, Charlotte A A1 Olson, Heather A1 Sigurdardottir, Laufey Yr A1 Arnold, Georgianne L A1 Gerkes, Erica H A1 Boon, M A1 Heiner-Fokkema, M Rebecca A1 Noble, Sandra A1 Bosma, Marjolein A1 Jans, Judith A1 Koolen, David A A1 Kamsteeg, Erik-Jan A1 Drögemöller, Britt A1 Ross, Colin J A1 Majewski, Jacek A1 Cho, Megan T A1 Begtrup, Amber A1 Wasserman, Wyeth W A1 Bui, Tuan A1 Brimble, Elise A1 Violante, Sara A1 Houten, Sander M A1 Wevers, Ron A A1 van Faassen, Martijn A1 Kema, Ido P A1 Lepage, Nathalie A1 Lines, Matthew A A1 Dyment, David A A1 Wanders, Ronald JA A1 Verhoeven-Duif, Nanda A1 Ekker, Marc A1 Boycott, Kym M A1 Friedman, Jan M A1 Pena, Izabella A A1 van Karnebeek, Clara DM PB eScholarship, University of California YR 2019 K1 Epilepsy K1 Neurosciences K1 Brain Disorders K1 Neurodegenerative K1 2.1 Biological and endogenous factors K1 Aetiology K1 Neurological K1 Animals K1 Disease Models K1 Animal K1 Female K1 HEK293 Cells K1 Humans K1 Male K1 Phenotype K1 Proteins K1 Pyridoxal Phosphate K1 Pyridoxine K1 Vitamin B 6 K1 Vitamin B 6 Deficiency K1 Zebrafish K1 PLPBP K1 PROSC K1 vitamin B6-responsive epilepsy K1 Care4Rare Canada Consortium K1 Medical and Health Sciences K1 Psychology and Cognitive Sciences K1 Neurology & Neurosurgery JF qt235891bk LK http://dx.doi.org/https://escholarship.org/uc/item/235891bk DO https://escholarship.org/uc/item/235891bk SF ELIB - SuUB Bremen
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