TY  - GEN
AU  - Bischof,Felix
AU  - Nägele,Thomas
AU  - Wanders,Ronald J A
AU  - Trefz,Friedrich K
AU  - Melms,Arthur
TI  - 3-hydroxy-3-methylglutaryl-CoA lyase deficiency in an adult with leukoencephalopathy
SN  - 0364-5134
PY  - 2005///0110
KW  - Adult
KW  - Brain Diseases
KW  - drug therapy
KW  - Carnitine
KW  - blood
KW  - Female
KW  - Fibroblasts
KW  - enzymology
KW  - Glutarates
KW  - urine
KW  - Humans
KW  - Hypoglycemia
KW  - Leukocytes
KW  - Magnetic Resonance Imaging
KW  - methods
KW  - Mass Spectrometry
KW  - Oxidoreductases
KW  - Oxo-Acid-Lyases
KW  - deficiency
N1  - Publication Type: Case Reports; Journal Article
UR  - https://doi.org/10.1002/ana.20280
ER  -