-
1
-
-
0029760340
-
Rett syndrome
-
Clarke A: Rett syndrome. J Med Genet 1996;33:693-699.
-
(1996)
J Med Genet
, vol.33
, pp. 693-699
-
-
Clarke, A.1
-
2
-
-
0031454558
-
Rett syndrome: Epidemiology and geographical variability
-
Hagberg B, Hagberg G: Rett syndrome: Epidemiology and geographical variability. Eur Child Adolesc Psychiatry 1997;6(Suppl 1):5-7.
-
(1997)
Eur Child Adolesc Psychiatry
, vol.6
, Issue.SUPPL. 1
, pp. 5-7
-
-
Hagberg, B.1
Hagberg, G.2
-
3
-
-
0031470764
-
The prevalence and incidence of Rett syndrome in Australia
-
Leonard H, Bower C, English D: The prevalence and incidence of Rett syndrome in Australia. Eur Child Adolesc Psychiatry 1997; 6(Suppl 1):8-10.
-
(1997)
Eur Child Adolesc Psychiatry
, vol.6
, Issue.SUPPL. 1
, pp. 8-10
-
-
Leonard, H.1
Bower, C.2
English, D.3
-
4
-
-
0345123569
-
Low plasma carnitine in Rett syndrome
-
Philippart M, Giudici TA: Low plasma carnitine in Rett syndrome, abstract. Neurology 1989;38(Suppl 1):294.
-
(1989)
Neurology
, vol.38
, Issue.SUPPL. 1
, pp. 294
-
-
Philippart, M.1
Giudici, T.A.2
-
5
-
-
0027477785
-
Skin fibroblast carnitine uptake in secondary carnitine deficiency disorders
-
Tein I, De Vivo DC, Ranucci D, et al: Skin fibroblast carnitine uptake in secondary carnitine deficiency disorders. J Inherit Metab Dis 1993;6:135-146.
-
(1993)
J Inherit Metab Dis
, vol.6
, pp. 135-146
-
-
Tein, I.1
De Vivo, D.C.2
Ranucci, D.3
-
6
-
-
0027716757
-
L-carnitine as a treatment for Rett syndrome
-
Plioplys AV, Kasnicka I: L-carnitine as a treatment for Rett syndrome. South Med J 1993;86:1411-1412.
-
(1993)
South Med J
, vol.86
, pp. 1411-1412
-
-
Plioplys, A.V.1
Kasnicka, I.2
-
7
-
-
0029973386
-
Carnitine deficiency and carnitine therapy in a patient with Rett syndrome
-
Plochl E, Sperl W, Wermuth B, et al: Carnitine deficiency and carnitine therapy in a patient with Rett syndrome. Klin Padiatr 1996;208:129-134.
-
(1996)
Klin Padiatr
, vol.208
, pp. 129-134
-
-
Plochl, E.1
Sperl, W.2
Wermuth, B.3
-
8
-
-
0025101871
-
Carnitine deficiency states
-
Breningstall GN: Carnitine deficiency states. Pediatr Neurol 1990; 6:75-81.
-
(1990)
Pediatr Neurol
, vol.6
, pp. 75-81
-
-
Breningstall, G.N.1
-
10
-
-
0027190361
-
Mitochondrial dysfunction in Rett syndrome. An ultrastructural and biochemical study
-
Dotti MT, Manneschi L, Malandrini A, et al: Mitochondrial dysfunction in Rett syndrome. An ultrastructural and biochemical study. Brain Dev 1993;15:103-106.
-
(1993)
Brain Dev
, vol.15
, pp. 103-106
-
-
Dotti, M.T.1
Manneschi, L.2
Malandrini, A.3
-
11
-
-
0025865424
-
Rett syndrome and mitochondrial enzyme deficiencies
-
Coker SB, Melnyk AR: Rett syndrome and mitochondrial enzyme deficiencies. J Child Neurol 1991;6:164-166.
-
(1991)
J Child Neurol
, vol.6
, pp. 164-166
-
-
Coker, S.B.1
Melnyk, A.R.2
-
12
-
-
0031444919
-
Mutational analysis of mitochondrial DNA of children with Rett syndrome
-
Tang J, Qi Y, Bao X, et al: Mutational analysis of mitochondrial DNA of children with Rett syndrome. Pediatr Neurol 1997;17:327-330.
-
(1997)
Pediatr Neurol
, vol.17
, pp. 327-330
-
-
Tang, J.1
Qi, Y.2
Bao, X.3
-
13
-
-
0023888966
-
Diagnostic criteria for Rett syndrome
-
The Rett Syndrome Diagnostic Working Group: Diagnostic criteria for Rett syndrome. Ann Neurol 1988;23:425-428.
-
(1988)
Ann Neurol
, vol.23
, pp. 425-428
-
-
-
14
-
-
0022460194
-
Rett syndrome: A suggested staging system for describing impairment profile with increasing age towards adolescence
-
Hagberg B, Witt-Engerstrom I: Rett syndrome: A suggested staging system for describing impairment profile with increasing age towards adolescence. Am J Med Genet 1986;24:47-59.
-
(1986)
Am J Med Genet
, vol.24
, pp. 47-59
-
-
Hagberg, B.1
Witt-Engerstrom, I.2
-
17
-
-
0028240753
-
Does carnitine improve the symptoms attributed to anticonvulsant medications? A double blinded crossover trial
-
Freeman JM, Vining EPG, Cost S, et al: Does carnitine improve the symptoms attributed to anticonvulsant medications? A double blinded crossover trial. Pediatrics 1994;93:893-895.
-
(1994)
Pediatrics
, vol.93
, pp. 893-895
-
-
Freeman, J.M.1
Vining, E.P.G.2
Cost, S.3
-
18
-
-
0028111560
-
Rett variants: A suggested model for inclusion criteria
-
Hagberg BA, Skjeldal OH: Rett variants: A suggested model for inclusion criteria. Pediatr Neurol 1994;11:5-11.
-
(1994)
Pediatr Neurol
, vol.11
, pp. 5-11
-
-
Hagberg, B.A.1
Skjeldal, O.H.2
-
19
-
-
0003525651
-
-
Atlanta, Centers for Disease Control
-
Dean AG, Dean JA, Coulombier D, et al: EPIINFO, version 6: A word processing database and statistics program for epidemiology on microcomputers. Atlanta, Centers for Disease Control, 1994.
-
(1994)
EPIINFO, Version 6: A Word Processing Database and Statistics Program for Epidemiology on Microcomputers
-
-
Dean, A.G.1
Dean, J.A.2
Coulombier, D.3
-
20
-
-
0029956829
-
First prenatal diagnosis of the carnitine transporter defect
-
Christodoulou J, Teo SH, Hammond J, et al: First prenatal diagnosis of the carnitine transporter defect. Am J Med Genet 1996; 66:21-24.
-
(1996)
Am J Med Genet
, vol.66
, pp. 21-24
-
-
Christodoulou, J.1
Teo, S.H.2
Hammond, J.3
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