-
1
-
-
0018373246
-
Creatine: Biosynthesis, regulation, and function
-
Walker JB. Creatine: biosynthesis, regulation, and function. Adv Enzymol 1979;50:177-242.
-
(1979)
Adv Enzymol
, vol.50
, pp. 177-242
-
-
Walker, J.B.1
-
2
-
-
0033935979
-
Creatine and creatine metabolism
-
Wyss M, Kaddurah-Daouk R. Creatine and creatine metabolism. Physiol Rev 2000;80:1107-213.
-
(2000)
Physiol Rev
, vol.80
, pp. 1107-1213
-
-
Wyss, M.1
Kaddurah-Daouk, R.2
-
3
-
-
0027994133
-
Creatine deficiency in the brain: A new, treatable inborn error of metabolism
-
Stöckler S, Holzbach U, Hanefeld F, Marquardt I, Helms G, Requart M, et al. Creatine deficiency in the brain: a new, treatable inborn error of metabolism. Pediatr Res 1994;36:409-13.
-
(1994)
Pediatr Res
, vol.36
, pp. 409-413
-
-
Stöckler, S.1
Holzbach, U.2
Hanefeld, F.3
Marquardt, I.4
Helms, G.5
Requart, M.6
-
4
-
-
0029959969
-
Guanidinoacetate methyltransferase deficiency: The first inborn error of creatine metabolism in man
-
Stöckler S, Isbrandt D, Hanefeld F, Schmidt B, von Figura K. Guanidinoacetate methyltransferase deficiency: the first inborn error of creatine metabolism in man. Am J Hum Genet 1996;58:914-22.
-
(1996)
Am J Hum Genet
, vol.58
, pp. 914-922
-
-
Stöckler, S.1
Isbrandt, D.2
Hanefeld, F.3
Schmidt, B.4
Von Figura, K.5
-
5
-
-
0031457381
-
Creatine deficiency syndrome caused by guanidinoacetate methyltransferase deficiency: Diagnostic tools for a new inborn error of metabolism
-
Schulze A, Hess T, Wevers R, Mayatepek E, Bachert P, Marescau B, et al. Creatine deficiency syndrome caused by guanidinoacetate methyltransferase deficiency: diagnostic tools for a new inborn error of metabolism. J Pediatr 1997;131:626-31.
-
(1997)
J Pediatr
, vol.131
, pp. 626-631
-
-
Schulze, A.1
Hess, T.2
Wevers, R.3
Mayatepek, E.4
Bachert, P.5
Marescau, B.6
-
6
-
-
0030722925
-
Guanidinoacetate methyltransferase deficiency: New clinical features
-
Ganesan V, Jhonson A, Connelly A, Eckhardt S, Surtees RA. Guanidinoacetate methyltransferase deficiency: new clinical features. Pediatr Neurol 1997;17:155-7.
-
(1997)
Pediatr Neurol
, vol.17
, pp. 155-157
-
-
Ganesan, V.1
Jhonson, A.2
Connelly, A.3
Eckhardt, S.4
Surtees, R.A.5
-
7
-
-
0034032637
-
Mental retardation and behavioural problems as presenting signs of a creatine synthesis defect
-
Van der Knaap MS, Verhoeven NM, Maaswinkel-Mooij P, Pouwels PJ, Onkenhout W, Peeters EA, et al. Mental retardation and behavioural problems as presenting signs of a creatine synthesis defect. Ann Neurol 2000;47:540-3.
-
(2000)
Ann Neurol
, vol.47
, pp. 540-543
-
-
Van der Knaap, M.S.1
Verhoeven, N.M.2
Maaswinkel-Mooij, P.3
Pouwels, P.J.4
Onkenhout, W.5
Peeters, E.A.6
-
8
-
-
0034649446
-
Brain creatine depletion: Guanidinoacetate methyltransferase deficiency (improving with creatine supplementation)
-
Leuzzi V, Bianchi MC, Tosetti M, Carducci C, Cerquiglini CA, Cioni G, et al. Brain creatine depletion: guanidinoacetate methyltransferase deficiency (improving with creatine supplementation). Neurology 2000;55:1407-9.
-
(2000)
Neurology
, vol.55
, pp. 1407-1409
-
-
Leuzzi, V.1
Bianchi, M.C.2
Tosetti, M.3
Carducci, C.4
Cerquiglini, C.A.5
Cioni, G.6
-
9
-
-
0001423395
-
Guanidinoacetate methyltransferase deficiency
-
Scriver CR, Beaudet AL, Sly WS, Valle D, eds. New York: McGraw-Hill
-
Von Figura K, Hanefeld F, Isbrandt D, Stockler-Ipsiroglu S. Guanidinoacetate methyltransferase deficiency. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The metabolic and molecular bases of inherited disease, 8th ed., Vol. 2. New York: McGraw-Hill, 2001:1897-908.
-
(2001)
The Metabolic and Molecular Bases of Inherited Disease, 8th Ed.
, vol.2
, pp. 1897-1908
-
-
Von Figura, K.1
Hanefeld, F.2
Isbrandt, D.3
Stockler-Ipsiroglu, S.4
-
10
-
-
0034077740
-
Reversible brain creatine deficiency in two sisters with normal blood creatine level
-
Bianchi MC, Tosetti M, Fornai F, Alessandri' MG, Cipriani P, De Vito G, et al. Reversible brain creatine deficiency in two sisters with normal blood creatine level. Ann Neurol 2000;47:511-3.
-
(2000)
Ann Neurol
, vol.47
, pp. 511-513
-
-
Bianchi, M.C.1
Tosetti, M.2
Fornai, F.3
Alessandri', M.G.4
Cipriani, P.5
De Vito, G.6
-
11
-
-
0034764751
-
Arginine:Glycine amidinotransferase deficiency: The third inborn error of creatine metabolism in humans
-
Item CB, Stockler-Ipsiroglu S, Stromberger C, Muhl A, Alessandri MG, Bianchi MC, et al. Arginine:glycine amidinotransferase deficiency: the third inborn error of creatine metabolism in humans. Am J Hum Genet 2001;69:1127-33.
-
(2001)
Am J Hum Genet
, vol.69
, pp. 1127-1133
-
-
Item, C.B.1
Stockler-Ipsiroglu, S.2
Stromberger, C.3
Muhl, A.4
Alessandri, M.G.5
Bianchi, M.C.6
-
12
-
-
0035098030
-
Irreversible brain creatine deficiency with elevated serum and urine creatine: A creatine transporter defect?
-
Cecil KM, Salomons GS, Ball WS, Wong B, Chuck G, Verhoeven NM, et al. Irreversible brain creatine deficiency with elevated serum and urine creatine: a creatine transporter defect? Ann Neurol 2001;49:401-4.
-
(2001)
Ann Neurol
, vol.49
, pp. 401-404
-
-
Cecil, K.M.1
Salomons, G.S.2
Ball, W.S.3
Wong, B.4
Chuck, G.5
Verhoeven, N.M.6
-
13
-
-
0034987448
-
X-linked creatine-transporter gene (SLC6A8) defect: A new creatine-deficiency syndrome
-
Salomons GS, van Dooren SJ, Verhoeven NM, Cecil KM, Ball WS, Degrauw TJ, et al. X-linked creatine-transporter gene (SLC6A8) defect: a new creatine-deficiency syndrome. Am J Hum Genet 2001;68:1497-500.
-
(2001)
Am J Hum Genet
, vol.68
, pp. 1497-1500
-
-
Salomons, G.S.1
Van Dooren, S.J.2
Verhoeven, N.M.3
Cecil, K.M.4
Ball, W.S.5
Degrauw, T.J.6
-
14
-
-
0030833384
-
Guanidino compounds in guanidinoacetate methyltransferase deficiency, a new inborn error of creatine synthesis
-
Stöckler S, Marescau B, De Deyn PP, Trijbels JM, Hanefeld F. Guanidino compounds in guanidinoacetate methyltransferase deficiency, a new inborn error of creatine synthesis. Metabolism 1997;46:1189-93.
-
(1997)
Metabolism
, vol.46
, pp. 1189-1193
-
-
Stöckler, S.1
Marescau, B.2
De Deyn, P.P.3
Trijbels, J.M.4
Hanefeld, F.5
-
15
-
-
0034526418
-
Two new severe mutations causing guanidinoacetate methyltransferase deficiency
-
Carducci C, Leuzzi V, Carducci C, Prudente S, Mercuri L, Antonozzi I. Two new severe mutations causing guanidinoacetate methyltransferase deficiency. Mol Genet Metab 2000;71:633-8.
-
(2000)
Mol Genet Metab
, vol.71
, pp. 633-638
-
-
Carducci, C.1
Leuzzi, V.2
Carducci, C.3
Prudente, S.4
Mercuri, L.5
Antonozzi, I.6
-
16
-
-
0035810739
-
Automated high-performance liquid chromatographic method for the determination of guanidinoacetic acid in dried blood spots: A tool for early diagnosis of guanidinoacetate methyltransferase deficiency
-
Carducci C, Birarelli M, Santagata P, Leuzzi V, Carducci C, Antonozzi I. Automated high-performance liquid chromatographic method for the determination of guanidinoacetic acid in dried blood spots: a tool for early diagnosis of guanidinoacetate methyltransferase deficiency. J Chromatogr B Biomed Sci Appl 2001;755:343-8.
-
(2001)
J Chromatogr B Biomed Sci Appl
, vol.755
, pp. 343-348
-
-
Carducci, C.1
Birarelli, M.2
Santagata, P.3
Leuzzi, V.4
Carducci, C.5
Antonozzi, I.6
-
17
-
-
0029834779
-
Sakaguchi reaction: A useful method for screening guanidinoacetate-methyltransferase deficiency
-
Schulze A, Mayatepek E, Rating D, Bremer HJ. Sakaguchi reaction: a useful method for screening guanidinoacetate-methyltransferase deficiency. J Inherit Metab Dis 1996;19:706.
-
(1996)
J Inherit Metab Dis
, vol.19
, pp. 706
-
-
Schulze, A.1
Mayatepek, E.2
Rating, D.3
Bremer, H.J.4
-
18
-
-
0030759324
-
GC-MS determination of guanidinoacetate in urine and plasma
-
Hunneman DH, Hanefeld F. GC-MS determination of guanidinoacetate in urine and plasma. J Inherit Metab Dis 1997;20:450-2.
-
(1997)
J Inherit Metab Dis
, vol.20
, pp. 450-452
-
-
Hunneman, D.H.1
Hanefeld, F.2
-
19
-
-
0032446322
-
An accurate stable isotope dilution gas chromatographic-mass spectrometric approach to the diagnosis of guanidinoacetate methyltransferase deficiency
-
Struys EA, Jansen EE, ten Brink HJ, Verhoeven NM, van der Knaap MS, Jakobs C. An accurate stable isotope dilution gas chromatographic-mass spectrometric approach to the diagnosis of guanidinoacetate methyltransferase deficiency. J Pharm Biomed Anal 1998;18:659-65.
-
(1998)
J Pharm Biomed Anal
, vol.18
, pp. 659-665
-
-
Struys, E.A.1
Jansen, E.E.2
Ten Brink, H.J.3
Verhoeven, N.M.4
Van der Knaap, M.S.5
Jakobs, C.6
-
20
-
-
0034971857
-
Analysis of guanidinoacetate and creatine by isotope dilution electrospray tandem mass spectrometry
-
Bodamer OA, Bloesch SM, Gregg AR, Stockler-Ipsiroglu S, O'Brien WE. Analysis of guanidinoacetate and creatine by isotope dilution electrospray tandem mass spectrometry. Clin Chim Acta 2001; 308:173-8.
-
(2001)
Clin Chim Acta
, vol.308
, pp. 173-178
-
-
Bodamer, O.A.1
Bloesch, S.M.2
Gregg, A.R.3
Stockler-Ipsiroglu, S.4
O'Brien, W.E.5
-
21
-
-
0019865856
-
Post-column derivatization of guanidino compounds in high-performance liquid chromatography using ninhydrin
-
Hiraga Y, Konoshita T. Post-column derivatization of guanidino compounds in high-performance liquid chromatography using ninhydrin. J Chromatogr 1981;226:43-51.
-
(1981)
J Chromatogr
, vol.226
, pp. 43-51
-
-
Hiraga, Y.1
Konoshita, T.2
-
22
-
-
0026723952
-
Guanidino compounds in serum, urine, liver, kidney, and brain of man and some ureotelic animals
-
Marescau B, Deshmukh DR, Kockx M, Possemiers I, Qureshi IA, Wiechert P, et al. Guanidino compounds in serum, urine, liver, kidney, and brain of man and some ureotelic animals. Metabolism 1992;41:526-32.
-
(1992)
Metabolism
, vol.41
, pp. 526-532
-
-
Marescau, B.1
Deshmukh, D.R.2
Kockx, M.3
Possemiers, I.4
Qureshi, I.A.5
Wiechert, P.6
-
23
-
-
0343550351
-
Guanidinoacetate methyltransferase (GAMT) deficiency: Non-invasive enzymatic diagnosis of a new recognised inborn error of metabolism
-
Ilas J, Muhl A, Stöckler-Ipsiroglu S. Guanidinoacetate methyltransferase (GAMT) deficiency: non-invasive enzymatic diagnosis of a new recognised inborn error of metabolism. Clin Chim Acta 2000;290:179-88.
-
(2000)
Clin Chim Acta
, vol.290
, pp. 179-188
-
-
Ilas, J.1
Muhl, A.2
Stöckler-Ipsiroglu, S.3
|