TY  - GEN
AU  - Willemsen,Marjolein
AU  - Rodenburg,Richard J T
AU  - Teszas,Alexandra
AU  - van den Heuvel,Lambert
AU  - Kosztolanyi,Gyorgy
AU  - Morava,Eva
TI  - Females with PDHA1 gene mutations: a diagnostic challenge
SN  - 1567-7249
PY  - 2006///0825
KW  - Adolescent
KW  - Biopsy
KW  - Child
KW  - Child, Preschool
KW  - Chromosomes, Human, X
KW  - Female
KW  - Fibroblasts
KW  - metabolism
KW  - Humans
KW  - Infant
KW  - Muscles
KW  - Mutation
KW  - Point Mutation
KW  - Pyruvate Dehydrogenase (Lipoamide)
KW  - genetics
KW  - Pyruvate Dehydrogenase Complex Deficiency Disease
KW  - diagnosis
KW  - X Chromosome Inactivation
N1  - Publication Type: Journal Article
UR  - https://doi.org/10.1016/j.mito.2006.03.001
ER  -