Bischof, Felix

3-hydroxy-3-methylglutaryl-CoA lyase deficiency in an adult with leukoencephalopathy. [electronic resource] - Annals of neurology Nov 2004 - 727-30 p. digital

Publication Type: Case Reports; Journal Article

0364-5134

10.1002/ana.20280 doi


Adult
Brain Diseases--drug therapy
Carnitine--blood
Female
Fibroblasts--enzymology
Glutarates--urine
Humans
Hypoglycemia--blood
Leukocytes--enzymology
Magnetic Resonance Imaging--methods
Mass Spectrometry--methods
Oxidoreductases--urine
Oxo-Acid-Lyases--deficiency