-
1
-
-
8944233364
-
Clinical course, early diagnosis, treatment, and prevention of disease in Glutaryl-CoA Dehydrogenase deficiency
-
Hoffman GF, Athanassopoulos S, Burlina AB et al. Clinical course, early diagnosis, treatment, and prevention of disease in Glutaryl-CoA Dehydrogenase deficiency. Neuropediatr. 1996; 27: 115-23.
-
(1996)
Neuropediatr.
, vol.27
, pp. 115-123
-
-
Hoffman, G.F.1
Athanassopoulos, S.2
Burlina, A.B.3
-
3
-
-
0029804292
-
Subdural hemorrhage as an initial sign of glutaric aciduria type 1: A diagnostic pitfall
-
Woelfle J, Kreft B, Emons D, Haverkamp F. Subdural hemorrhage as an initial sign of glutaric aciduria type 1: A diagnostic pitfall. Pediatr. Radiol. 1996; 26: 779-81.
-
(1996)
Pediatr. Radiol.
, vol.26
, pp. 779-781
-
-
Woelfle, J.1
Kreft, B.2
Emons, D.3
Haverkamp, F.4
-
4
-
-
0027238616
-
Chronic subdural hematoma as an initial manifestation of glutaric aciduria type-1
-
Osaka H, Kimura S, Nezu A, Yamazaki S, Saitoh K, Yamaguchi S. Chronic subdural hematoma as an initial manifestation of glutaric aciduria type-1. Brain Dev. 1993; 15: 125-7.
-
(1993)
Brain Dev.
, vol.15
, pp. 125-127
-
-
Osaka, H.1
Kimura, S.2
Nezu, A.3
Yamazaki, S.4
Saitoh, K.5
Yamaguchi, S.6
-
5
-
-
0025821557
-
Bilateral arachnoid cysts of the temporal fossa in four children with glutaric aciduria type 1
-
Hald JK, Nakstad PH, Skjeldal OH, Stromme P. Bilateral arachnoid cysts of the temporal fossa in four children with glutaric aciduria type 1. Am. J. Neuroradiol. 1991; 12: 407-9.
-
(1991)
Am. J. Neuroradiol.
, vol.12
, pp. 407-409
-
-
Hald, J.K.1
Nakstad, P.H.2
Skjeldal, O.H.3
Stromme, P.4
-
6
-
-
0016420661
-
Glutaric aciduria: A 'new' disorder of amino acid metabolism
-
Goodman SI, Markey SP, Moe PG, Miles BS, Teng CC. Glutaric aciduria: a 'new' disorder of amino acid metabolism. Biochem. Med. 1975; 12: 12-21.
-
(1975)
Biochem. Med.
, vol.12
, pp. 12-21
-
-
Goodman, S.I.1
Markey, S.P.2
Moe, P.G.3
Miles, B.S.4
Teng, C.C.5
-
7
-
-
17744405461
-
Glutaric aciduria. A 'common' metabolic disorder?
-
Kyllerman M, Steen G. Glutaric aciduria. A 'common' metabolic disorder? Arch. Fr. Pediatr. 1980; 37: 279.
-
(1980)
Arch. Fr. Pediatr.
, vol.37
, pp. 279
-
-
Kyllerman, M.1
Steen, G.2
-
8
-
-
0000766599
-
The use of organotypic tissue culture for study of amino acid neurotoxicity and its antagonism in mammalian CNS
-
Whetsell WO. The use of organotypic tissue culture for study of amino acid neurotoxicity and its antagonism in mammalian CNS. Clin. Neuropharmacol. 1984; 7(Suppl. 1): 452.
-
(1984)
Clin. Neuropharmacol.
, vol.7
, Issue.1 SUPPL.
, pp. 452
-
-
Whetsell, W.O.1
-
9
-
-
0017251307
-
Inhibition of brain glutamate decarboxylase by glutarate, glutaconate, and 3-hydroxy-glutarate: Explanation of the symptoms in glutaric aciduria?
-
Stokke O, Goodman SI, Moe PG. Inhibition of brain glutamate decarboxylase by glutarate, glutaconate, and 3-hydroxy-glutarate: explanation of the symptoms in glutaric aciduria? Clin. Chem. Acta 1976; 66: 411-5.
-
(1976)
Clin. Chem. Acta
, vol.66
, pp. 411-415
-
-
Stokke, O.1
Goodman, S.I.2
Moe, P.G.3
-
10
-
-
0023829553
-
A case of glutaric acidemia type 1: Effect of riboflavin and carnitine
-
Lipkin PH, Roe CR, Goodman SI, Batshaw ML. A case of glutaric acidemia type 1: Effect of riboflavin and carnitine. J. Pediatr 1988; 112: 62-5.
-
(1988)
J. Pediatr
, vol.112
, pp. 62-65
-
-
Lipkin, P.H.1
Roe, C.R.2
Goodman, S.I.3
Batshaw, M.L.4
-
11
-
-
0017356797
-
Glutaric aciduria: Biochemical and morphologic considerations
-
Goodman SI, Norenberg MD, Shikes RH, Breslich DJ, Moe PG. Glutaric aciduria: Biochemical and morphologic considerations. J. Pediatr. 1977; 90: 746-50.
-
(1977)
J. Pediatr.
, vol.90
, pp. 746-750
-
-
Goodman, S.I.1
Norenberg, M.D.2
Shikes, R.H.3
Breslich, D.J.4
Moe, P.G.5
-
12
-
-
0019120250
-
Glutaric acidemia: A metabolic disorder causing progressive choreoathetosis
-
Leibel RL, Shih VE, Goodman SI et al. Glutaric acidemia: A metabolic disorder causing progressive choreoathetosis. Neurol. 1980; 30: 1163-8.
-
(1980)
Neurol.
, vol.30
, pp. 1163-1168
-
-
Leibel, R.L.1
Shih, V.E.2
Goodman, S.I.3
-
13
-
-
0026663738
-
Glutaric aciduria type 1: Unusual biochemical presentation
-
Campistol. J, Ribes A, Alvarez L, Christensen E, Millington DS. Glutaric aciduria type 1: Unusual biochemical presentation. J. Pediatr. 1992; 121: 83-6.
-
(1992)
J. Pediatr.
, vol.121
, pp. 83-86
-
-
Campistol, J.1
Ribes, A.2
Alvarez, L.3
Christensen, E.4
Millington, D.S.5
-
16
-
-
0026316639
-
Glutaric aciduria type 1: A common cause of episodic encephalopathy and spastic paralysis in the Amish of Lancaster County, Pennsylvania
-
Morton DH, Bennett MJ, Sergeant LE, Nichter CA, Kelley RI. Glutaric aciduria type 1: A common cause of episodic encephalopathy and spastic paralysis in the Amish of Lancaster County, Pennsylvania. Am. J. Med. Genet. 1991; 41: 89-95.
-
(1991)
Am. J. Med. Genet.
, vol.41
, pp. 89-95
-
-
Morton, D.H.1
Bennett, M.J.2
Sergeant, L.E.3
Nichter, C.A.4
Kelley, R.I.5
-
17
-
-
0022884387
-
Glutaric aciduria type 1: Biochemical investigations and postmortem findings
-
Bennett MJ, Marlow N, Pollitt RJ, Wales JKH. Glutaric aciduria type 1: Biochemical investigations and postmortem findings. Eur. J. Pediatr. 1986; 145: 403-5.
-
(1986)
Eur. J. Pediatr.
, vol.145
, pp. 403-405
-
-
Bennett, M.J.1
Marlow, N.2
Pollitt, R.J.3
Wales, J.K.H.4
-
18
-
-
0017844632
-
Glutaric aciduria in progressive choreoathetosis
-
Brandt NJ, Brandt S, Christensen E, Gregersen N, Rasmussen K. Glutaric aciduria in progressive choreoathetosis. Clin. Genet. 1979; 13: 77-80.
-
(1979)
Clin. Genet.
, vol.13
, pp. 77-80
-
-
Brandt, N.J.1
Brandt, S.2
Christensen, E.3
Gregersen, N.4
Rasmussen, K.5
-
20
-
-
0028069436
-
Dystonia and dyskinesia in glutaric aciduria type 1: Clinical heterogeneity and therapeutic considerations
-
Kyllerman M, Skjeldal OH, Lundberg M et al. Dystonia and dyskinesia in glutaric aciduria type 1: Clinical heterogeneity and therapeutic considerations. Movement Disorders 1994; 9: 22-30.
-
(1994)
Movement Disorders
, vol.9
, pp. 22-30
-
-
Kyllerman, M.1
Skjeldal, O.H.2
Lundberg, M.3
-
21
-
-
0024400683
-
Glutaric aciduria type 1: Enzymatic and neuroradiologic investigations of two kindreds
-
Amir N, Elpeleg ON, Shalev RS, Christensen E. Glutaric aciduria type 1: Enzymatic and neuroradiologic investigations of two kindreds. J. Pediatr. 1989; 114: 983-9.
-
(1989)
J. Pediatr.
, vol.114
, pp. 983-989
-
-
Amir, N.1
Elpeleg, O.N.2
Shalev, R.S.3
Christensen, E.4
-
23
-
-
0028340418
-
Prenatal diagnosis of glutaryl-CoA dehydrogenase deficiency: Experience using first-trimester chorionic villus sampling
-
Christensen E. Prenatal diagnosis of glutaryl-CoA dehydrogenase deficiency: Experience using first-trimester chorionic villus sampling. Prenat. Diag. 1994; 14: 333-6.
-
(1994)
Prenat. Diag.
, vol.14
, pp. 333-336
-
-
Christensen, E.1
|