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RBCK1‐related disease: A rare multisystem disorder with pol..:
Phadke, Rahul
;
Hedberg‐Oldfors, Carola
;
Scalco, Renata S.
...
Journal of Inherited Metabolic Disease. 43 (2020) 5 - p. 1002-1013 , 2020
Link:
https://doi.org/10.1002/jimd.12234
RT Journal T1
RBCK1‐related disease: A rare multisystem disorder with polyglucosan storage, auto‐inflammation, recurrent infections, skeletal, and cardiac myopathy—Four additional patients and a review of the current literature
UL https://suche.suub.uni-bremen.de/peid=cr-10.1002_jimd.12234&Exemplar=1&LAN=DE A1 Phadke, Rahul A1 Hedberg‐Oldfors, Carola A1 Scalco, Renata S. A1 Lowe, David M. A1 Ashworth, Michael A1 Novelli, Marco A1 Vara, Roshni A1 Merwick, Aine A1 Amer, Halima A1 Sofat, Reecha A1 Sugarman, Max A1 Jovanovic, Ana A1 Roberts, Mark A1 Nakou, Vasiliki A1 King, Andrew A1 Bodi, Istvan A1 Jungbluth, Heinz A1 Oldfors, Anders A1 Murphy, Elaine PB Wiley YR 2020 SN 0141-8955 SN 1573-2665 JF Journal of Inherited Metabolic Disease VO 43 IS 5 SP 1002 OP 1013 LK http://dx.doi.org/https://doi.org/10.1002/jimd.12234 DO https://doi.org/10.1002/jimd.12234 SF ELIB - SuUB Bremen
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