TY  - GEN
AU  - Puisac,Beatriz
AU  - Marcos-Alcalde,Iñigo
AU  - Hernández-Marcos,María
AU  - Tobajas Morlana,Pilar
AU  - Levtova,Alina
AU  - Schwahn,Bernd C
AU  - DeLaet,Corinne
AU  - Lace,Baiba
AU  - Gómez-Puertas,Paulino
AU  - Pié,Juan
TI  - Human Mitochondrial HMG-CoA Synthase Deficiency: Role of Enzyme Dimerization Surface and Characterization of Three New Patients
SN  - 1422-0067
PY  - 2018///0905
KW  - Amino Acid Substitution
KW  - Child, Preschool
KW  - Female
KW  - Humans
KW  - Hydroxymethylglutaryl-CoA Synthase
KW  - deficiency
KW  - Infant
KW  - Male
KW  - Metabolism, Inborn Errors
KW  - enzymology
KW  - Mitochondrial Proteins
KW  - Mutation, Missense
KW  - Protein Multimerization
N1  - Publication Type: Journal Article
UR  - https://doi.org/10.3390/ijms19041010
ER  -