L‐2‐hydroxyglutaric acidemia: A novel inherited neurometabolic disease

Annals of Neurology

Volumn 32, Issue 1, 1992, Pages 66-71

  Barth, Peter G ^a   Hoffmann, Georg F ^b   Jaeken, Jaak ^c   Lehnert, Willy ^d   Hanefeld, Folker ^e   Van Gennip, Albert H ^a   Duran, Marinus ^f   Valk, Jaap ^g   Schutgens, Ruud B H ^a   Trefz, Friedrich K ^b   Reimann, Gabriele ^h   Hartung, Hans‐Peter ^h  

^a ACADEMIC MEDICAL CENTER   (Netherlands)

^b UNIVERSITY OF HEIDELBERG   (Germany)

^c UNIVERSITY HOSPITALS LEUVEN   (Belgium)

^d UNIVERSITY OF FREIBURG   (Germany)

^e UNIVERSITY OF GÖTTINGEN   (Germany)

^f UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

^g VU UNIVERSITY MEDICAL CENTER   (Netherlands)

^h UNIVERSITY OF WÜRZBURG   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

GLUTARIC ACID; LYSINE;

ACIDEMIA; ADOLESCENT; ADULT; ARTICLE; CEREBELLUM ATROPHY; CLINICAL ARTICLE; CLINICAL FEATURE; FEMALE; GAS CHROMATOGRAPHY; HUMAN; LEUKOENCEPHALOPATHY; MALE; MASS SPECTROMETRY; MENTAL DEFICIENCY; METABOLIC ACIDOSIS; NUCLEAR MAGNETIC RESONANCE IMAGING; PRIORITY JOURNAL; SCREENING;

ADOLESCENT; ADULT; AMINO ACID METABOLISM, INBORN ERRORS; FEMALE; GLUTARATES; HUMAN; MAGNETIC RESONANCE IMAGING; MALE; NERVOUS SYSTEM DISEASES;

EID: 0026775751     PISSN: 03645134     EISSN: 15318249     Source Type: Journal    
DOI: 10.1002/ana.410320111     Document Type: Article

References (11)

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10. Pipecolic acid pathway: the major lysine metabolic route in the rat brain
11. Alpha‐hydroxyglutaric acid synthetase