Thiamine pyrophosphokinase deficiency causes a Leigh Disease like phenotype in a sibling pair: identification through whole exome sequencing and management strategies.
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Thiamine pyrophosphokinase deficiency causes a Leigh Disease like phenotype in a sibling pair: identification through whole exome sequencing and management strategies.
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article científic
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article scientifique
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articolo scientifico
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artigo científico
@pt
bilimsel makale
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scientific article published on 11 February 2014
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vedecký článok
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vetenskaplig artikel
@sv
videnskabelig artikel
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vědecký článek
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name
Thiamine pyrophosphokinase def ...... ing and management strategies.
@en
Thiamine pyrophosphokinase def ...... ing and management strategies.
@nl
type
label
Thiamine pyrophosphokinase def ...... ing and management strategies.
@en
Thiamine pyrophosphokinase def ...... ing and management strategies.
@nl
prefLabel
Thiamine pyrophosphokinase def ...... ing and management strategies.
@en
Thiamine pyrophosphokinase def ...... ing and management strategies.
@nl
P2093
P2860
P1476
Thiamine pyrophosphokinase def ...... ing and management strategies.
@en
P2093
Dina J Zand
Gilbert Vezina
Jamie L Fraser
Kimberly A Chapman
Kristina P Cusmano-Ozog
Laura Cramp
Patroula Smpokou
Sandra Yang
Uta Lichter-Konecki
P2860
P356
10.1016/J.YMGMR.2013.12.007
P577
2014-02-11T00:00:00Z