-
1
-
-
33645678077
-
X-linked creatine transporter defect: A report on two unrelated boys with a severe clinical phenotype
-
Anselm IM, Alkuraya FS, Salomons GS, Jakobs C, Fulton AB, Mazumdar M, Rivkin M, Frye R, Young T, Marsden D 2006) X-linked creatine transporter defect: a report on two unrelated boys with a severe clinical phenotype. J Inherit Metab Dis 29 : 214 219.
-
(2006)
J Inherit Metab Dis
, vol.29
, pp. 214-219
-
-
Anselm, I.M.1
Alkuraya, F.S.2
Salomons, G.S.3
Jakobs, C.4
Fulton, A.B.5
Mazumdar, M.6
Rivkin, M.7
Frye, R.8
Young, T.9
Marsden, D.10
-
2
-
-
0035098030
-
Irreversible brain creatine deficiency with elevated serum and urine creatine: A creatine transporter defect?
-
Cecil KM, Salomons GS, Ball WS Jr., Wong B, Chuck G, Verhoeven NM, Jakobs C, DeGraw TJ 2001) Irreversible brain creatine deficiency with elevated serum and urine creatine: a creatine transporter defect?. Ann Neurol 49 : 401 404.
-
(2001)
Ann Neurol
, vol.49
, pp. 401-404
-
-
Cecil, K.M.1
Salomons, G.S.2
Ball, Jr.W.S.3
Wong, B.4
Chuck, G.5
Verhoeven, N.M.6
Jakobs, C.7
Degraw, T.J.8
-
3
-
-
0026036424
-
Guanidino compounds that are increased in Hyperargininemia inhibit GABA and glycine responses on mouse neurons in cell culture
-
De Deyn PP, Marescau B, Macdonald RL 1991) Guanidino compounds that are increased in Hyperargininemia inhibit GABA and glycine responses on mouse neurons in cell culture. Epilepsy Res 8 : 134 141.
-
(1991)
Epilepsy Res
, vol.8
, pp. 134-141
-
-
De Deyn, P.P.1
Marescau, B.2
MacDonald, R.L.3
-
4
-
-
0026478010
-
Convulsive action and toxicity of uremic guanidino compounds: Behavioral assessment and relation to brain concentration in adult mice
-
D'Hooge R, Pei YQ, Marescau B, De Deyn PP 1992) Convulsive action and toxicity of uremic guanidino compounds: behavioral assessment and relation to brain concentration in adult mice. J Neurol Sci 112 : 96 105.
-
(1992)
J Neurol Sci
, vol.112
, pp. 96-105
-
-
D'Hooge, R.1
Pei, Y.Q.2
Marescau, B.3
De Deyn, P.P.4
-
5
-
-
57649159177
-
Arginine supplementation in four patients with X-linked creatine transporter defect
-
Fons C, Sempere A, Arias A, López-Sala A, Póo P, Pineda M, Mas A, Vilaseca MA, Salomons GS, Ribes A, Artuch R, Campistol J 2008) Arginine supplementation in four patients with X-linked creatine transporter defect. J Inherit Metab Dis 31 : 724 728.
-
(2008)
J Inherit Metab Dis
, vol.31
, pp. 724-728
-
-
Fons, C.1
Sempere, A.2
Arias, A.3
López-Sala, A.4
Póo, P.5
Pineda, M.6
Mas, A.7
Vilaseca, M.A.8
Salomons, G.S.9
Ribes, A.10
Artuch, R.11
Campistol, J.12
-
6
-
-
34249783450
-
Severe epilepsy in X-linked creatine transporter defect (CRTR-D)
-
Mancardi MM, Caruso U, Schiaffino MC, Baglietto MG, Rossi A, Battaglia FM, Salomons GS, Jakobs C, Zara F, Veneselli E, Gaggero R 2007) Severe epilepsy in X-linked creatine transporter defect (CRTR-D). Epilepsia 48 : 1211 1213.
-
(2007)
Epilepsia
, vol.48
, pp. 1211-1213
-
-
Mancardi, M.M.1
Caruso, U.2
Schiaffino, M.C.3
Baglietto, M.G.4
Rossi, A.5
Battaglia, F.M.6
Salomons, G.S.7
Jakobs, C.8
Zara, F.9
Veneselli, E.10
Gaggero, R.11
-
7
-
-
19944427684
-
Two novel mutations in SLC6A8 cause creatine transporter defect and distinctive X-linked mental retardation in two unrelated Dutch families
-
Mancini GM, Catsman-Berrevoets CE, de Coo IF, Aarsen FK, Kamphoven JH, Huijmans JG, Duran M, van der Knaap MS, Jakobs C, Salomons GS 2005) Two novel mutations in SLC6A8 cause creatine transporter defect and distinctive X-linked mental retardation in two unrelated Dutch families. Am J Med Genet A 30 : 288 295.
-
(2005)
Am J Med Genet A
, vol.30
, pp. 288-295
-
-
Mancini, G.M.1
Catsman-Berrevoets, C.E.2
De Coo, I.F.3
Aarsen, F.K.4
Kamphoven, J.H.5
Huijmans, J.G.6
Duran, M.7
Van Der Knaap, M.S.8
Jakobs, C.9
Salomons, G.S.10
-
8
-
-
33645686423
-
X-linked creatine transporter deficiency in two patients with severe mental retardation and autism
-
Póo P, Arias A, Vilaseca MA, Ribes A, Artuch R, Sans A, Moreno A, Jackobs C, Salomons GS 2006) X-linked creatine transporter deficiency in two patients with severe mental retardation and autism. J Inherit Metab Dis 29 : 220 223.
-
(2006)
J Inherit Metab Dis
, vol.29
, pp. 220-223
-
-
Póo, P.1
Arias, A.2
Vilaseca, M.A.3
Ribes, A.4
Artuch, R.5
Sans, A.6
Moreno, A.7
Jackobs, C.8
Salomons, G.S.9
-
9
-
-
0019509687
-
-
Proposal for revised clinical and electroencephalographic classification of epileptic seizures. From the Commission on Classification and Terminology of the International League Against Epilepsy
-
Proposal for revised clinical and electroencephalographic classification of epileptic seizures. From the Commission on Classification and Terminology of the International League Against Epilepsy 1981) Epilepsia 22 : 489 501.
-
(1981)
Epilepsia
, vol.22
, pp. 489-501
-
-
-
10
-
-
0038042466
-
X-Linked creatine transporter defect: An overview
-
Salomons GS, van Dooren SJM, Verhoeven NM, Marsden D, Schwartz C, Cecil KM, DeGraw TJ, Jakobs C 2003) X-Linked creatine transporter defect: an overview. J Inherit Metab Dis 26 : 309 318.
-
(2003)
J Inherit Metab Dis
, vol.26
, pp. 309-318
-
-
Salomons, G.S.1
Van Dooren, S.J.M.2
Verhoeven, N.M.3
Marsden, D.4
Schwartz, C.5
Cecil, K.M.6
Degraw, T.J.7
Jakobs, C.8
-
11
-
-
0037306564
-
Creatine deficiency syndromes
-
Schulze A 2003) Creatine deficiency syndromes. Mol Cell Biochem 244 : 143 150.
-
(2003)
Mol Cell Biochem
, vol.244
, pp. 143-150
-
-
Schulze, A.1
|