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1 Ergebnisse
1
Thiamine pyrophosphokinase deficiency causes a Leigh Diseas..:
Fraser, Jamie L.
;
Vanderver, Adeline
;
Yang, Sandra
...
Molecular Genetics and Metabolism Reports. 1 (2014) - p. 66-70 , 2014
Link:
https://doi.org/10.1016/j.ymgmr.2013.12.007
RT Journal T1
Thiamine pyrophosphokinase deficiency causes a Leigh Disease like phenotype in a sibling pair: identification through whole exome sequencing and management strategies
UL https://suche.suub.uni-bremen.de/peid=cr-10.1016_j.ymgmr.2013.12.007&Exemplar=1&LAN=DE A1 Fraser, Jamie L. A1 Vanderver, Adeline A1 Yang, Sandra A1 Chang, Taeun A1 Cramp, Laura A1 Vezina, Gilbert A1 Lichter-Konecki, Uta A1 Cusmano-Ozog, Kristina P. A1 Smpokou, Patroula A1 Chapman, Kimberly A. A1 Zand, Dina J. PB Elsevier BV YR 2014 SN 2214-4269 JF Molecular Genetics and Metabolism Reports VO 1 SP 66 OP 70 LK http://dx.doi.org/https://doi.org/10.1016/j.ymgmr.2013.12.007 DO https://doi.org/10.1016/j.ymgmr.2013.12.007 SF ELIB - SuUB Bremen
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