A SUCCESSFULLY TREATED ADULT PATIENT WITH L-2-HYDROXYGLUTARIC ACIDURIA

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Bibliographische Detailangaben
Veröffentlicht in:	Neurology 2008-03, Vol.70 (13), p.1051-1052
Hauptverfasser:	SAMURAKI, M, KOMAI, K, HASEGAWA, Y, KIMURA, M, YAMAGUCHI, S, TERADA, N, YAMADA, M
Format:	Artikel
Sprache:	eng
Schlagworte:	Adult Age Factors Alcohol Oxidoreductases - genetics Alcohol Oxidoreductases - urine Biological and medical sciences Brain - enzymology Brain - pathology Brain - physiopathology Brain Diseases, Metabolic - drug therapy Brain Diseases, Metabolic - genetics Brain Diseases, Metabolic - physiopathology Brain Diseases, Metabolic, Inborn - drug therapy Brain Diseases, Metabolic, Inborn - genetics Brain Diseases, Metabolic, Inborn - physiopathology Carnitine - therapeutic use Chromosomes, Human, Pair 14 - genetics Female Flavin-Adenine Dinucleotide - therapeutic use Genetic Markers - genetics Genetic Predisposition to Disease - genetics Homozygote Humans Intellectual Disability - drug therapy Intellectual Disability - genetics Intellectual Disability - physiopathology Lysine - metabolism Magnetic Resonance Imaging Medical sciences Movement Disorders - drug therapy Movement Disorders - genetics Movement Disorders - physiopathology Multiple sclerosis and variants. Guillain barré syndrome and other inflammatory polyneuropathies. Leukoencephalitis Neurology Treatment Outcome
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