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