TY  - GEN
AU  - Banka,Siddharth
AU  - de Goede,Christian
AU  - Yue,Wyatt W
AU  - Morris,Andrew A M
AU  - von Bremen,Beate
AU  - Chandler,Kate E
AU  - Feichtinger,René G
AU  - Hart,Claire
AU  - Khan,Nasaim
AU  - Lunzer,Verena
AU  - Mataković,Lavinija
AU  - Marquardt,Thorsten
AU  - Makowski,Christine
AU  - Prokisch,Holger
AU  - Debus,Otfried
AU  - Nosaka,Kazuto
AU  - Sonwalkar,Hemant
AU  - Zimmermann,Franz A
AU  - Sperl,Wolfgang
AU  - Mayr,Johannes A
TI  - Expanding the clinical and molecular spectrum of thiamine pyrophosphokinase deficiency: a treatable neurological disorder caused by TPK1 mutations
SN  - 1096-7206
PY  - 2015///0716
KW  - Acidosis, Lactic
KW  - Amino Acid Sequence
KW  - Child
KW  - Child, Preschool
KW  - Female
KW  - Humans
KW  - Magnetic Resonance Imaging
KW  - Male
KW  - Models, Molecular
KW  - Mutation
KW  - Nervous System Diseases
KW  - drug therapy
KW  - Phenotype
KW  - Protein Conformation
KW  - Protein Multimerization
KW  - Thiamin Pyrophosphokinase
KW  - chemistry
KW  - Thiamine
KW  - administration & dosage
KW  - Thiamine Pyrophosphate
KW  - metabolism
N1  - Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1016/j.ymgme.2014.09.010
ER  -