TY  - GEN
AU  - Grünert,Sarah Catharina
AU  - Schmitt,Robert Niklas
AU  - Schlatter,Sonja Marina
AU  - Gemperle-Britschgi,Corinne
AU  - Balcı,Mehmet Cihan
AU  - Berg,Volker
AU  - Çoker,Mahmut
AU  - Das,Anibh M
AU  - Demirkol,Mübeccel
AU  - Derks,Terry G J
AU  - Gökçay,Gülden
AU  - Uçar,Sema Kalkan
AU  - Konstantopoulou,Vassiliki
AU  - Christoph Korenke,G
AU  - Lotz-Havla,Amelie Sophia
AU  - Schlune,Andrea
AU  - Staufner,Christian
AU  - Tran,Christel
AU  - Visser,Gepke
AU  - Schwab,Karl Otfried
AU  - Fukao,Toshiyuki
AU  - Sass,Jörn Oliver
TI  - Clinical presentation and outcome in a series of 32 patients with 2-methylacetoacetyl-coenzyme A thiolase (MAT) deficiency
SN  - 1096-7206
PY  - 2018///0518
KW  - Acetyl-CoA C-Acetyltransferase
KW  - genetics
KW  - Acetyl-CoA C-Acyltransferase
KW  - deficiency
KW  - Adolescent
KW  - Adult
KW  - Amino Acid Metabolism, Inborn Errors
KW  - complications
KW  - Child
KW  - Child, Preschool
KW  - Consanguinity
KW  - Fatty Acids
KW  - metabolism
KW  - Female
KW  - Genetic Association Studies
KW  - Humans
KW  - Infant
KW  - Infant, Newborn
KW  - Isoleucine
KW  - Ketone Bodies
KW  - Male
KW  - Mutation
KW  - Neonatal Screening
KW  - Prognosis
KW  - Retrospective Studies
KW  - Young Adult
N1  - Publication Type: Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1016/j.ymgme.2017.06.012
ER  -