-
1
-
-
0023143971
-
Lethal multiple acyl-CoA dehydrogenase deficiency with dysmorphic features
-
Bennett, M. J., Pollitt, R. J., Land, J. M., Turner, M. J. & Cheetham, C. H.: Lethal multiple acyl-CoA dehydrogenase deficiency with dysmorphic features. J. Inherited Metab. Dis. 10: 95-96, 1987.
-
(1987)
J. Inherited Metab. Dis.
, vol.10
, pp. 95-96
-
-
Bennett, M.J.1
Pollitt, R.J.2
Land, J.M.3
Turner, M.J.4
Cheetham, C.H.5
-
2
-
-
0021762225
-
Prenatal diagnosis of dysmorphic neonatal-lethal type II glutaricaciduria
-
Boué, J., Chalmers, R. A., Tracey, B. M., Watson, D., Gray, R. G. F., Keeling, J. W., King, G. S., Pettit, B. R., Lindenbaum, R. H., Rocchiccioli, F. & Saudubray, J.-M.: Prenatal diagnosis of dysmorphic neonatal-lethal type II glutaricaciduria. Lancet 1: 846-847, 1984.
-
(1984)
Lancet
, vol.1
, pp. 846-847
-
-
Boué, J.1
Chalmers, R.A.2
Tracey, B.M.3
Watson, D.4
Gray, R.G.F.5
Keeling, J.W.6
King, G.S.7
Pettit, B.R.8
Lindenbaum, R.H.9
Rocchiccioli, F.10
Saudubray, J.-M.11
-
3
-
-
0019953516
-
Multiple acyl-CoA dehydrogenation deficiency (glutaric aciduria type II), congenital polycystic kidneys, and symmetric warty dysplasia of the cerebral cortex in two newborn brothers
-
Böhm, N., Uy, J., Kiessling, M. & Lehnert, W.: Multiple acyl-CoA dehydrogenation deficiency (glutaric aciduria type II), congenital polycystic kidneys, and symmetric warty dysplasia of the cerebral cortex in two newborn brothers. Eur. J. Pediatr. 139: 60-65, 1982.
-
(1982)
Eur. J. Pediatr.
, vol.139
, pp. 60-65
-
-
Böhm, N.1
Uy, J.2
Kiessling, M.3
Lehnert, W.4
-
4
-
-
0022360711
-
The prenatal diagnosis of glutaric aciduria type II, using quantitative GC-MS
-
Chalmers, R. A., Tracey, B. M., King, G. S., Pettit, B., Rocchiccioli, F., Saudubray, J.-M., Gray, R. G. F., Boué, J., Keeling, J. W. & Lindenbaum, R. H.: The prenatal diagnosis of glutaric aciduria type II, using quantitative GC-MS. J. Inherited Metab. Dis. 8 (Suppl.): 145-146, 1985.
-
(1985)
J. Inherited Metab. Dis.
, vol.8
, Issue.SUPPL.
, pp. 145-146
-
-
Chalmers, R.A.1
Tracey, B.M.2
King, G.S.3
Pettit, B.4
Rocchiccioli, F.5
Saudubray, J.-M.6
Gray, R.G.F.7
Boué, J.8
Keeling, J.W.9
Lindenbaum, R.H.10
-
5
-
-
0021250369
-
Glutaric aciduria type II: Evidence for a defect related to the electron transfer flavoprotein or its dehydrogenase
-
Christensen, E., Kolvraa, S. & Gregersen, N.: Glutaric aciduria type II: Evidence for a defect related to the electron transfer flavoprotein or its dehydrogenase. Pediatr. Res. 18: 663-667, 1984.
-
(1984)
Pediatr. Res.
, vol.18
, pp. 663-667
-
-
Christensen, E.1
Kolvraa, S.2
Gregersen, N.3
-
6
-
-
0023700730
-
Glutaric acidemia type II. Comparison of pathologic features in two infants
-
Colevas, A. D., Edwards, J. L., Hruban, R. H., Mitchell, G. A., Valle, D. & Hutchins, G. M.: Glutaric acidemia type II. Comparison of pathologic features in two infants. Arch. Pathol. Lab. Med. 112: 1133-1139, 1988.
-
(1988)
Arch. Pathol. Lab. Med.
, vol.112
, pp. 1133-1139
-
-
Colevas, A.D.1
Edwards, J.L.2
Hruban, R.H.3
Mitchell, G.A.4
Valle, D.5
Hutchins, G.M.6
-
7
-
-
0000787687
-
Nuclear-encoded defects of the mitochondrial respiratory chain, including glutaric acidemia type II
-
Scriver, C. R., Beaudet, A. L., Sly, W. S. & Valle, D. (Eds.). McGraw-Hill, New York
-
Frerman, F. E. & Goodman, S. I.: Nuclear-encoded defects of the mitochondrial respiratory chain, including glutaric acidemia type II. In: Scriver, C. R., Beaudet, A. L., Sly, W. S. & Valle, D. (Eds.).: The Metabolic and Molecular Bases of Inherited Disease. 7th ed. McGraw-Hill, New York: 1995, pp. 1611-1629.
-
(1995)
The Metabolic and Molecular Bases of Inherited Disease. 7th Ed.
, pp. 1611-1629
-
-
Frerman, F.E.1
Goodman, S.I.2
-
8
-
-
0020678009
-
Glutaric acidemia type II: Form with deleterious intrauterine effects
-
Goodman, S. I., Reale, M. & Berlow, S.: Glutaric acidemia type II: form with deleterious intrauterine effects. J. Pediatr. 102: 411-413, 1983.
-
(1983)
J. Pediatr.
, vol.102
, pp. 411-413
-
-
Goodman, S.I.1
Reale, M.2
Berlow, S.3
-
9
-
-
0027489899
-
Glutaric aciduria type II, an unusual cause of prenatal polycystic kidneys: Report of prenatal diagnosis and confirmation of autosomal recessive inheritance
-
Hockey, A., Knowles, S., Davies, D., Carey, W., Hurst, J. & Goldblatt, J.: Glutaric aciduria type II, an unusual cause of prenatal polycystic kidneys: Report of prenatal diagnosis and confirmation of autosomal recessive inheritance. Birth Defects 29: 373-382, 1993.
-
(1993)
Birth Defects
, vol.29
, pp. 373-382
-
-
Hockey, A.1
Knowles, S.2
Davies, D.3
Carey, W.4
Hurst, J.5
Goldblatt, J.6
-
10
-
-
0023069453
-
Glutaric acidemia type II and flavin-dependent enzymes in morphogenesis
-
Hoganson, G., Berlow, S., Gilbert, E. F., Frerman, F., Goodmann, S. & Schweitzer, L.: Glutaric acidemia type II and flavin-dependent enzymes in morphogenesis. Birth Defects 23: 65-74, 1987.
-
(1987)
Birth Defects
, vol.23
, pp. 65-74
-
-
Hoganson, G.1
Berlow, S.2
Gilbert, E.F.3
Frerman, F.4
Goodmann, S.5
Schweitzer, L.6
-
11
-
-
0025240731
-
Glutaric acidemia type II: Heterogeneity of clinical and biochemical phenotypes
-
Loehr, J. P., Goodman, S. I. & Frerman, F. E.: Glutaric acidemia type II: Heterogeneity of clinical and biochemical phenotypes. Pediatr. Res. 27: 311-315, 1990.
-
(1990)
Pediatr. Res.
, vol.27
, pp. 311-315
-
-
Loehr, J.P.1
Goodman, S.I.2
Frerman, F.E.3
-
13
-
-
0029080735
-
Lethal neonatal deficiency of carnitine palmitoyltransferase II associated with dysgenesis of the brain and kidneys
-
North, K. N., Hoppel, C. L., Girolami, U. D., Kozakewich, H. P. W. & Korson, M. S.: Lethal neonatal deficiency of carnitine palmitoyltransferase II associated with dysgenesis of the brain and kidneys. J. Pediatr. 127: 414-420, 1995.
-
(1995)
J. Pediatr.
, vol.127
, pp. 414-420
-
-
North, K.N.1
Hoppel, C.L.2
Girolami, U.D.3
Kozakewich, H.P.W.4
Korson, M.S.5
-
14
-
-
0018892805
-
Glutaric aciduria Type II
-
Sweetman, L., Nyhan, W. L., Tauner, D. A., Merritt, T. A. & Singh, M.: Glutaric aciduria Type II. J. Pediatr. 96: 1020-1026, 1980.
-
(1980)
J. Pediatr.
, vol.96
, pp. 1020-1026
-
-
Sweetman, L.1
Nyhan, W.L.2
Tauner, D.A.3
Merritt, T.A.4
Singh, M.5
-
15
-
-
0029874136
-
Fetal polycystic kidney disease associated with glutaric aciduria type II: An inborn error of energy metabolism
-
Whitfield, J., Hurst, D., Bennett, M. J., Path, M. R. C., Sherwood, W. G., Hogg, R. & Gonsoulin, W.: Fetal polycystic kidney disease associated with glutaric aciduria type II: An inborn error of energy metabolism. Am. J. Perinatol. 13: 131-134, 1996.
-
(1996)
Am. J. Perinatol.
, vol.13
, pp. 131-134
-
-
Whitfield, J.1
Hurst, D.2
Bennett, M.J.3
Path, M.R.C.4
Sherwood, W.G.5
Hogg, R.6
Gonsoulin, W.7
-
16
-
-
0021749625
-
Cystic kidneys. Genetics, pathologic anatomy, clinical picture, and prenatal diagnosis
-
Zerres, K., Völpel, M.-C. & Weiss, H.: Cystic kidneys. Genetics, pathologic anatomy, clinical picture, and prenatal diagnosis. Hum. Genet. 68: 104-135, 1984.
-
(1984)
Hum. Genet.
, vol.68
, pp. 104-135
-
-
Zerres, K.1
Völpel, M.-C.2
Weiss, H.3
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