-
1
-
-
0026775751
-
L-2-hydroxyglutaric acidemia: A novel inherited neurometabolic disease
-
Barth PG, Hoffmann GF, Jacken J, et al: L-2-Hydroxyglutaric acidemia: A novel inherited neurometabolic disease. Ann Neurol 1992;32:66-71.
-
(1992)
Ann Neurol
, vol.32
, pp. 66-71
-
-
Barth, P.G.1
Hoffmann, G.F.2
Jacken, J.3
-
2
-
-
0030296399
-
2-Hydroxyglutaric aciduria: A case report on an infant with the D-isomeric form with review of the literature
-
Geerts Y, Renier WO, Bakkeren J, de Jong J: 2-Hydroxyglutaric aciduria: A case report on an infant with the D-isomeric form with review of the literature. J Neurol Sci 1996;143:166-169.
-
(1996)
J Neurol Sci
, vol.143
, pp. 166-169
-
-
Geerts, Y.1
Renier, W.O.2
Bakkeren, J.3
De Jong, J.4
-
3
-
-
0031787562
-
L-2-Hydroxyglutaric aciduria: MRI in seven cases
-
D'Incerti L, Farina L, Moroni I, Uziel G, Savoiardo M: L-2-Hydroxyglutaric aciduria: MRI in seven cases. Neuroradiology 1998;40:727-733.
-
(1998)
Neuroradiology
, vol.40
, pp. 727-733
-
-
D'Incerti, L.1
Farina, L.2
Moroni, I.3
Uziel, G.4
Savoiardo, M.5
-
4
-
-
0028069436
-
Dystonia and dyskinesia in glutaric aciduria type I: Clinical heterogeneity and therapeutic considerations
-
Kyllerman M, Skjeldal OH, Lundberg M, et al: Dystonia and dyskinesia in glutaric aciduria type I: Clinical heterogeneity and therapeutic considerations. Mov Disord 1994;9:22-30.
-
(1994)
Mov Disord
, vol.9
, pp. 22-30
-
-
Kyllerman, M.1
Skjeldal, O.H.2
Lundberg, M.3
-
5
-
-
0027333003
-
L-2-Hydroxyglutarate dehydrogenase: Identification of a novel enzyme activity in rat and human liver: Implications for L-2-hydroxyglutaric acidemia
-
Jansen GA, Wanders RJA: L-2-Hydroxyglutarate dehydrogenase: Identification of a novel enzyme activity in rat and human liver: Implications for L-2-hydroxyglutaric acidemia. Biochim Biophys Acta 1993;1225:53-56.
-
(1993)
Biochim Biophys Acta
, vol.1225
, pp. 53-56
-
-
Jansen, G.A.1
Wanders, R.J.A.2
-
6
-
-
0030804441
-
L-2-Hydroxyglutaric aciduria: Normal L-2-hydroxyglutarate dehydrogenase activity in liver from two new patients
-
Wanders RJA, Vilarinho L, Hartung HP, et al: L-2-Hydroxyglutaric aciduria: Normal L-2-hydroxyglutarate dehydrogenase activity in liver from two new patients. J Inherit Metab 1997;20:725-726.
-
(1997)
J Inherit Metab
, vol.20
, pp. 725-726
-
-
Wanders, R.J.A.1
Vilarinho, L.2
Hartung, H.P.3
-
7
-
-
0027279451
-
Stable isotope dilution analysis of D and L hydroxyglutaric acid: Application to the detection and prenatal diagnosis of D-and L-2-hydroxyglutaric acidemias
-
Gibson KM, Tenbrink HJ, Schor DSM, et al: Stable isotope dilution analysis of D and L hydroxyglutaric acid: Application to the detection and prenatal diagnosis of D-and L-2-hydroxyglutaric acidemias. Pediatr Res 1993; 34:277-280.
-
(1993)
Pediatr Res
, vol.34
, pp. 277-280
-
-
Gibson, K.M.1
Tenbrink, H.J.2
Schor, D.S.M.3
-
8
-
-
0028147725
-
Clinical and pathological study of three Tunisian siblings with L-2-hydroxyglutaric aciduria
-
Larnaout A, Hentati F, Belal S, Ben Hamida C, Kaabachi N, Ben Hamida M: Clinical and pathological study of three Tunisian siblings with L-2-hydroxyglutaric aciduria. Acta Neuropathol 1994;88:367-370.
-
(1994)
Acta Neuropathol
, vol.88
, pp. 367-370
-
-
Larnaout, A.1
Hentati, F.2
Belal, S.3
Ben Hamida, C.4
Kaabachi, N.5
Ben Hamida, M.6
-
9
-
-
0029040708
-
Organic acids in cerebrospinal fluid and plasma of patients with L-2-hydroxyglutaric aciduria
-
Hoffmann GF, Jakobs C, Holmes B, Mitchell L, Becker G, Hartung HP, Nyhan WL: Organic acids in cerebrospinal fluid and plasma of patients with L-2-hydroxyglutaric aciduria. J Inherit Metab Dis 1995;18:189-193.
-
(1995)
J Inherit Metab Dis
, vol.18
, pp. 189-193
-
-
Hoffmann, G.F.1
Jakobs, C.2
Holmes, B.3
Mitchell, L.4
Becker, G.5
Hartung, H.P.6
Nyhan, W.L.7
-
10
-
-
0029671184
-
A novel alpha-ketoglutarate reductase activity of the serA-encoded 3-phosphoglycerate dehydrogenase of Escherichia coli K-12 and its possible implications for human 2-hydroxyglutaric aciduria
-
Zhao G, Winkler ME: A novel alpha-ketoglutarate reductase activity of the serA-encoded 3-phosphoglycerate dehydrogenase of Escherichia coli K-12 and its possible implications for human 2-hydroxyglutaric aciduria. J Bacteriol 1996;178:232-239.
-
(1996)
J Bacteriol
, vol.178
, pp. 232-239
-
-
Zhao, G.1
Winkler, M.E.2
|