-
1
-
-
0000582565
-
Idiopathic hyperglycinemia and hyperglycinuria: A new disorder of amino acid metabolism
-
Childs B, Nyhan WL, Borden M, Bard L, Cooke RE 1961 Idiopathic hyperglycinemia and hyperglycinuria: a new disorder of amino acid metabolism. Pediatrics 27:522-538
-
(1961)
Pediatrics
, vol.27
, pp. 522-538
-
-
Childs, B.1
Nyhan, W.L.2
Borden, M.3
Bard, L.4
Cooke, R.E.5
-
2
-
-
0014349198
-
Propionic acidemia, a new inborn error of metabolism
-
Hommes FA, Kuipers JRG, Elema JD, Jansen JF, Jonxis JHP 1968 Propionic acidemia, a new inborn error of metabolism. Pediatr Res 2:519-524
-
(1968)
Pediatr Res
, vol.2
, pp. 519-524
-
-
Hommes, F.A.1
Kuipers, J.R.G.2
Elema, J.D.3
Jansen, J.F.4
Jonxis, J.H.P.5
-
3
-
-
0001362219
-
Disorders of propionate and methylmalonate metabolism
-
Scriver CR, Beaudet AL, Sly WS, Valle D (eds) McGraw-Hill, New York
-
Fenton WA, Rosenberg LE, 1995 Disorders of propionate and methylmalonate metabolism. In: Scriver CR, Beaudet AL, Sly WS, Valle D (eds) The Metabolic and Molecular Bases of Inherited Disease, 7th Ed. McGraw-Hill, New York, pp 1431-1434
-
(1995)
The Metabolic and Molecular Bases of Inherited Disease, 7th Ed.
, pp. 1431-1434
-
-
Fenton, W.A.1
Rosenberg, L.E.2
-
4
-
-
0019778269
-
Propionic acidemia: A clinical update
-
Wolf B, Hsia EY, Sweetman L, Gravel R, Harris DJ, Nyhan WL 1981 Propionic acidemia: a clinical update. J Pediatr 99:835-846
-
(1981)
J Pediatr
, vol.99
, pp. 835-846
-
-
Wolf, B.1
Hsia, E.Y.2
Sweetman, L.3
Gravel, R.4
Harris, D.J.5
Nyhan, W.L.6
-
6
-
-
0023919487
-
Plasma cis-4-decenoic acid, a characteristic metabolite in medium-chain acyl-CoA dehydrogenase deficiency
-
Duran M, Bruinvis L, Ketting D, de Klerk JBC, Wadman SK 1988 Plasma cis-4-decenoic acid, a characteristic metabolite in medium-chain acyl-CoA dehydrogenase deficiency. Clin Chem 34:548-551
-
(1988)
Clin Chem
, vol.34
, pp. 548-551
-
-
Duran, M.1
Bruinvis, L.2
Ketting, D.3
De Klerk, J.B.C.4
Wadman, S.K.5
-
7
-
-
0027293714
-
Stable isotope dilution analysis of GABA in CSF using simple solvent extraction and electron-capture negative-ion mass fragmentography
-
Kok RM, Howells DW, Heuvel CCM, van den Guerand WS, Thompson GN, Jakobs C 1993 Stable isotope dilution analysis of GABA in CSF using simple solvent extraction and electron-capture negative-ion mass fragmentography. J Inherit Metab Dis 16:508-512
-
(1993)
J Inherit Metab Dis
, vol.16
, pp. 508-512
-
-
Kok, R.M.1
Howells, D.W.2
Heuvel, C.C.M.3
Van Den Guerand, W.S.4
Thompson, G.N.5
Jakobs, C.6
-
8
-
-
44949287159
-
1H NMR spectroscopy of human brain: Water suppression, short echo times, and 1 mL resolution
-
1H NMR spectroscopy of human brain: water suppression, short echo times, and 1 mL resolution. J Magn Reson 90:464-473
-
(1990)
J Magn Reson
, vol.90
, pp. 464-473
-
-
Frahm, J.1
Michaelis, T.2
Merboldt, K.D.3
Druhn, H.4
Gyngell, M.L.5
Hänicke, W.6
-
9
-
-
0028507387
-
Metabolite concentrations in the developing brain estimated with proton MR spectroscopy
-
Toft PB, Leth H, Lou HC, Pryds O, Henriksen O 1994 Metabolite concentrations in the developing brain estimated with proton MR spectroscopy. J Magn Reson Imaging 4:674-680
-
(1994)
J Magn Reson Imaging
, vol.4
, pp. 674-680
-
-
Toft, P.B.1
Leth, H.2
Lou, H.C.3
Pryds, O.4
Henriksen, O.5
-
10
-
-
0027451907
-
Development of the human brain: In vivo quantification of metabolite and water content with proton magnetic resonance spectroscopy
-
Kreis R, Ernst T, Ross BD 1993 Development of the human brain: in vivo quantification of metabolite and water content with proton magnetic resonance spectroscopy. Magn Reson Med 30:424-437
-
(1993)
Magn Reson Med
, vol.30
, pp. 424-437
-
-
Kreis, R.1
Ernst, T.2
Ross, B.D.3
-
11
-
-
0017897578
-
Correlation between serum propionate and blood ammonia concentrations in propionic acidemia
-
Wolf B, Hsia YE, Tanaka K, Rosenberg LE 1978 Correlation between serum propionate and blood ammonia concentrations in propionic acidemia. J Pediatr 93:471-473
-
(1978)
J Pediatr
, vol.93
, pp. 471-473
-
-
Wolf, B.1
Hsia, Y.E.2
Tanaka, K.3
Rosenberg, L.E.4
-
12
-
-
0028168450
-
Urinary excretion of homocitric acid and methylhomocitric acid in propionic acidaemia: Minor metabolic products of the citrate synthase aldol condensation reaction
-
Van Rooyen JPG, Mienie LJ, Erasmus E, de Wet WJ, Duran M, Wadman SK 1994 Urinary excretion of homocitric acid and methylhomocitric acid in propionic acidaemia: minor metabolic products of the citrate synthase aldol condensation reaction. Clin Chim Acta 230:91-99
-
(1994)
Clin Chim Acta
, vol.230
, pp. 91-99
-
-
Van Rooyen, J.P.G.1
Mienie, L.J.2
Erasmus, E.3
De Wet, W.J.4
Duran, M.5
Wadman, S.K.6
-
13
-
-
0024427119
-
Adult-onset chorea and dementia with propionic acidemia
-
Sethi KD, Ray R, Roesel RA, Carter AL, Gallagher BB, Loring DW, Hommes FA 1989 Adult-onset chorea and dementia with propionic acidemia. Neurology 39:1343-1345
-
(1989)
Neurology
, vol.39
, pp. 1343-1345
-
-
Sethi, K.D.1
Ray, R.2
Roesel, R.A.3
Carter, A.L.4
Gallagher, B.B.5
Loring, D.W.6
Hommes, F.A.7
-
14
-
-
0017687299
-
Genetic complementation of propionyl-CoA carboxylase deficiency in cultured human fibroblasts
-
Gravel RA, Lam KF, Scully KJ, Hsia YE 1977 Genetic complementation of propionyl-CoA carboxylase deficiency in cultured human fibroblasts. Am J Hum Genet 29:378-388
-
(1977)
Am J Hum Genet
, vol.29
, pp. 378-388
-
-
Gravel, R.A.1
Lam, K.F.2
Scully, K.J.3
Hsia, Y.E.4
-
15
-
-
0028870138
-
Acute basal ganglia infarction in propionic acidemia
-
Haas RH, Marsden DL, Capistrano-Estrada S, Hamilton R, Grafe MR, Wong W, Nyhan WL 1995 Acute basal ganglia infarction in propionic acidemia. J Child Neurol 10:18-22
-
(1995)
J Child Neurol
, vol.10
, pp. 18-22
-
-
Haas, R.H.1
Marsden, D.L.2
Capistrano-Estrada, S.3
Hamilton, R.4
Grafe, M.R.5
Wong, W.6
Nyhan, W.L.7
-
17
-
-
0026149236
-
1H NMR spectroscopy in patients with chronic hepatic encephalopathy: Analysis of changes in cerebral glutamine, choline and inositols
-
1H NMR spectroscopy in patients with chronic hepatic encephalopathy: analysis of changes in cerebral glutamine, choline and inositols. NMR Biomed 4:109-116
-
(1991)
NMR Biomed
, vol.4
, pp. 109-116
-
-
Kreis, R.1
Farrow, N.2
Ross, B.D.3
-
18
-
-
0026145805
-
1H spectroscopy: Glutamate and glutamine; myo-inositol and related metabolites
-
1H spectroscopy: glutamate and glutamine; myo-inositol and related metabolites. NMR Biomed 4:59-63
-
(1991)
NMR Biomed
, vol.4
, pp. 59-63
-
-
Ross, B.D.1
-
19
-
-
0026541298
-
Metabolic disorders of the brain in chronic hepatic encephalopathy detected with H-1 MR spectroscopy
-
Kreis R, Ross BD, Farrow NA, Ackerman Z 1992 Metabolic disorders of the brain in chronic hepatic encephalopathy detected with H-1 MR spectroscopy. Radiology 182:19-27
-
(1992)
Radiology
, vol.182
, pp. 19-27
-
-
Kreis, R.1
Ross, B.D.2
Farrow, N.A.3
Ackerman, Z.4
-
20
-
-
0027498888
-
Magnetic resonance spectroscopy shows increased brain glutamine in ornithine carbamoyl transferase deficiency
-
Connelly A, Cross JH, Gadian DG, Hunter JV, Kirkham FJ, Leonard JV 1993 Magnetic resonance spectroscopy shows increased brain glutamine in ornithine carbamoyl transferase deficiency. Pediatr Res 33:77-81
-
(1993)
Pediatr Res
, vol.33
, pp. 77-81
-
-
Connelly, A.1
Cross, J.H.2
Gadian, D.G.3
Hunter, J.V.4
Kirkham, F.J.5
Leonard, J.V.6
-
21
-
-
0027328582
-
Proton spectroscopy in five patients with Leigh's disease and mitochondrial enzyme deficiency
-
Krägeloh-Mann I, Grodd W, Schöning M, Marquard K, Nägele T, Ruitenbeek W 1993 Proton spectroscopy in five patients with Leigh's disease and mitochondrial enzyme deficiency. Dev Med Child Neurol 35:769-770
-
(1993)
Dev Med Child Neurol
, vol.35
, pp. 769-770
-
-
Krägeloh-Mann, I.1
Grodd, W.2
Schöning, M.3
Marquard, K.4
Nägele, T.5
Ruitenbeek, W.6
-
22
-
-
0028136140
-
Proton spectroscopy in patients with Leigh's disease and mitochondrial enzyme deficiency
-
Kruse B, Hanefeld F, Holzbach U, Wilichowski E, Christen HJ, Merboldt KD, Hänicke W, Frahm J 1994 Proton spectroscopy in patients with Leigh's disease and mitochondrial enzyme deficiency. Dev Med Child Neurol 36:839-840
-
(1994)
Dev Med Child Neurol
, vol.36
, pp. 839-840
-
-
Kruse, B.1
Hanefeld, F.2
Holzbach, U.3
Wilichowski, E.4
Christen, H.J.5
Merboldt, K.D.6
Hänicke, W.7
Frahm, J.8
-
23
-
-
0024093449
-
Glutamate neurotoxicity and diseases of the nervous system
-
Choi DW 1988 Glutamate neurotoxicity and diseases of the nervous system. Neuron 1:623-634
-
(1988)
Neuron
, vol.1
, pp. 623-634
-
-
Choi, D.W.1
-
24
-
-
9444223479
-
Effects of focal brain ischemia on lactate, N-acetyl aspartate and glutamate
-
Berkeley
-
Higuchi T, Fernandez EJ, Shimizu H, Weinstein PR, Maudsley AA, Weiner MW 1991 Effects of focal brain ischemia on lactate, N-acetyl aspartate and glutamate. In: Book of Abstracts of Society of Magnetic Resonance in Medicine, Berkeley, p 145
-
(1991)
Book of Abstracts of Society of Magnetic Resonance in Medicine
, pp. 145
-
-
Higuchi, T.1
Fernandez, E.J.2
Shimizu, H.3
Weinstein, P.R.4
Maudsley, A.A.5
Weiner, M.W.6
-
25
-
-
0042275196
-
Regional specific changes of N-acetyl aspartate, lactate, alanine and glutamate in post globally ischemic brain
-
Berkeley
-
Higuchi T, Fernandez EJ, Rooney WD, Gaspary HL, Graham SH, Weinstein PR, Maudsley AA, Weiner MW 1992 Regional specific changes of N-acetyl aspartate, lactate, alanine and glutamate in post globally ischemic brain. In: Book of Abstracts of Society of Magnetic Resonance in Medicine. Berkeley, p 547
-
(1992)
Book of Abstracts of Society of Magnetic Resonance in Medicine
, pp. 547
-
-
Higuchi, T.1
Fernandez, E.J.2
Rooney, W.D.3
Gaspary, H.L.4
Graham, S.H.5
Weinstein, P.R.6
Maudsley, A.A.7
Weiner, M.W.8
-
26
-
-
0027215862
-
Noninvasive detection of increased glycine content by proton MR spectroscopy in the brains of two infants with nonketotic hyperglycinemia
-
Heindel W, Kugel H, Roth B 1993 Noninvasive detection of increased glycine content by proton MR spectroscopy in the brains of two infants with nonketotic hyperglycinemia. Am J Neuroradiol 14:629-635
-
(1993)
Am J Neuroradiol
, vol.14
, pp. 629-635
-
-
Heindel, W.1
Kugel, H.2
Roth, B.3
-
27
-
-
0019349961
-
The evolution of white matter disease as seen on computed tomography
-
Barnes DM, Enzmann DR 1981 The evolution of white matter disease as seen on computed tomography. Radiology 138:379-383
-
(1981)
Radiology
, vol.138
, pp. 379-383
-
-
Barnes, D.M.1
Enzmann, D.R.2
-
30
-
-
0027184507
-
Physiology and pathophysiology of organic acids in cerebrospinal fluid
-
Hoffmann GF, Meier-Augenstein W, Stöckler S, Surtees R, Rating D, Nyhan WL 1993 Physiology and pathophysiology of organic acids in cerebrospinal fluid. J Inherit Metab Dis 16:648-669
-
(1993)
J Inherit Metab Dis
, vol.16
, pp. 648-669
-
-
Hoffmann, G.F.1
Meier-Augenstein, W.2
Stöckler, S.3
Surtees, R.4
Rating, D.5
Nyhan, W.L.6
|