-
1
-
-
0036347518
-
Effects of oral creatine supplementation in a patient with melas phenotype and associated nephropathy
-
Barisic N, Bernert G, Ipsiroglu O, et al. (2002) Effects of oral creatine supplementation in a patient with MELAS phenotype and associated nephropathy. Neuropediatrics 3:157-161
-
(2002)
Neuropediatrics
, vol.3
, pp. 157-161
-
-
Barisic, N.1
Bernert, G.2
Ipsiroglu, O.3
-
2
-
-
12244277899
-
Creatine depletion in a new case with agat deficiency: Clinical and genetic study in a large pedigree
-
Battini R, Leuzzi V, Carducci C, et al. (2002) Creatine depletion in a new case with AGAT deficiency: clinical and genetic study in a large pedigree. Mol Genet Metab 77:326-331
-
(2002)
Mol Genet Metab
, vol.77
, pp. 326-331
-
-
Battini, R.1
Leuzzi, V.2
Carducci, C.3
-
3
-
-
0034077740
-
Reversible brain creatine deficiency in two sisters with normal blood creatine level
-
Bianchi MC, TosettiM, Fornai F, et al. (2000) Reversible brain creatine deficiency in two sisters with normal blood creatine level. Ann Neurol 47:511-513
-
(2000)
Ann Neurol
, vol.47
, pp. 511-513
-
-
Bianchi, M.C.1
Tosetti, M.2
Fornai, F.3
-
4
-
-
0001196221
-
The hydrolysis of phosphocreatine and the origin of urinary creatinine
-
Borsook H, Dubnoff JW (1947) The hydrolysis of phosphocreatine and the origin of urinary creatinine. J Biol Chem 168:493-510
-
(1947)
J Biol Chem
, vol.168
, pp. 493-510
-
-
Borsook, H.1
Dubnoff, J.W.2
-
5
-
-
0035098030
-
Irreversible brain creatine deficiency with elevated serumand urine creatine: A creatine transporter defect?
-
Cecil KM, Salomons GS, BallWS, et al. (2001) Irreversible brain creatine deficiency with elevated serumand urine creatine: a creatine transporter defect? AnnNeurol 49:401-404
-
(2001)
AnnNeurol
, vol.49
, pp. 401-404
-
-
Cecil, K.M.1
Salomons, G.S.2
Ball, W.S.3
-
7
-
-
13344282098
-
Protein requirements of infants and children
-
Dewey KG, Beaton G, Fjeld C, et al. (1996) Protein requirements of infants and children. Eur J Clin Nutr (Suppl. 1) 50:119-147
-
(1996)
Eur J Clin Nutr
, vol.50
, Issue.SUPPL.. 1
, pp. 119-147
-
-
Dewey, K.G.1
Beaton, G.2
Fjeld, C.3
-
8
-
-
0030722925
-
Guanidinoacetate methyltransferase deficiency: New clinical features
-
Ganesan V, Johnson A, Connelly A, et al. (1997) Guanidinoacetate methyltransferase deficiency: new clinical features. Pediatr Neurol 17:155-157
-
(1997)
Pediatr Neurol
, vol.17
, pp. 155-157
-
-
Ganesan, V.1
Johnson, A.2
Connelly, A.3
-
9
-
-
0037304972
-
A role for guanidine compounds in the brain
-
Hiramatsu M (2003) A role for guanidine compounds in the brain. Molec Cell Biochem 244:57-62
-
(2003)
Molec Cell Biochem
, vol.244
, pp. 57-62
-
-
Hiramatsu, M.1
-
10
-
-
0034764751
-
Arginine: Glycine amindinotransferase (agat) deficiency: The thirdinbornerror of creatine metabolism inhumans
-
Item CB, Stöckler-Ipsiroglu S, Stromberger C, et al. (2001) Arginine:glycine amindinotransferase (AGAT) deficiency:The thirdinbornerror of creatine metabolism inhumans. Am J Hum Genet 69:1127-1133
-
(2001)
Am J Hum Genet
, vol.69
, pp. 1127-1133
-
-
Item, C.B.1
Stöckler-Ipsiroglu, S.2
Stromberger, C.3
-
11
-
-
0008045080
-
Extracellular creatine regulates creatine uptake in rat and humanmuscle cells
-
Loike J, Zalutsky D, Daback E, Miranda A, Silverstein S (1988) Extracellular creatine regulates creatine uptake in rat and humanmuscle cells. Proc Natl Acad Sci USA 85:807-811
-
(1988)
Proc Natl Acad Sci USA
, vol.85
, pp. 807-811
-
-
Loike, J.1
Zalutsky, D.2
Daback, E.3
Miranda, A.4
Silverstein, S.5
-
12
-
-
0036843535
-
The blood-brain barrier creatine transporter is a major pathway for supplying creatine to the brain
-
Ohtsuki S, Tachikawa M, Takanaga H, Shimizu H, Watanabe M, Hosoya K, Terasaki T (2002) The blood-brain barrier creatine transporter is a major pathway for supplying creatine to the brain. J Cereb Blood Flow Metab 22:1327-1335
-
(2002)
J Cereb Blood Flow Metab
, vol.22
, pp. 1327-1335
-
-
Ohtsuki, S.1
Tachikawa, M.2
Takanaga, H.3
Shimizu, H.4
Watanabe, M.5
Hosoya, K.6
Terasaki, T.7
-
13
-
-
0034987448
-
X-linked creatine-transporter gene (slc6a8) defect: Anewcreatine- deficiency syndrome
-
Salomons GS, Dooren SJ van, Verhoeven NM, et al. (2001) X-linked creatine-transporter gene (SLC6A8)defect: anewcreatine-deficiency syndrome.AmJHumGenet 68 (6):1497-1500
-
(2001)
AmJHumGenet
, vol.68
, Issue.6
, pp. 1497-1500
-
-
Salomons, G.S.1
Van Dooren, S.J.2
Verhoeven, N.M.3
-
14
-
-
84873988238
-
Strategies in the treatment ofgamtdeficiency
-
In: Jakobs C, Stoeckler-Ipsiroglu S, Verhoeven N, Salomons G, (eds) SPS, Heilbronn
-
SchulzeA (2005) Strategies in the treatment ofGAMTdeficiency. In: Jakobs C, Stoeckler-Ipsiroglu S, Verhoeven N, Salomons G, (eds) Clinical and molecular aspects of defects in creatine and polyol metabolism. Proceedings 17. Jahrestagung der Arbeitsgemeinschaft für Pädiatrische Stoffwechselstörungen, 2003. SPS, Heilbronn 19-33
-
(2005)
Clinical and molecular aspects of defects in creatine and polyol metabolism. Proceedings 17. Jahrestagung der Arbeitsgemeinschaft für Pädiatrische Stoffwechselstörungen
, vol.2003
, pp. 19-33
-
-
Schulze, A.1
-
15
-
-
0031808246
-
Therapeutic trial of arginine restriction in creatine deficiency syndrome
-
Schulze A,Mayatepek E, Bachert P,Marescau B,DeDeyn PP, RatingD(1998) Therapeutic trial of arginine restriction in creatine deficiency syndrome. Eur J Pediatr 157:606-607
-
(1998)
Eur J Pediatr
, vol.157
, pp. 606-607
-
-
Schulze, A.1
Mayatepek, E.2
Bachert, P.3
Marescau, B.4
DeDeyn, P.P.5
Rating, D.6
-
16
-
-
0035694594
-
Improving treatment of guanidinoacetate methyltransferase deficiency: Reduction of guanidinoacetic acid in body fluids by arginine restriction and ornithine supplementation
-
Schulze A, Ebinger F, Rating D, Mayatepek E (2001) Improving treatment of guanidinoacetate methyltransferase deficiency: reduction of guanidinoacetic acid in body fluids by arginine restriction and ornithine supplementation. Mol Genet Metab 74:413-419
-
(2001)
Mol Genet Metab
, vol.74
, pp. 413-419
-
-
Schulze, A.1
Ebinger, F.2
Rating, D.3
Mayatepek, E.4
-
17
-
-
0037309446
-
Lack of creatine in muscle and brain in an adult with gamt deficiency
-
Schulze A, Bachert P, Schlemmer H, et al. (2003) Lack of creatine in muscle and brain in an adult with GAMT deficiency. Ann Neurol 53:248-251
-
(2003)
Ann Neurol
, vol.53
, pp. 248-251
-
-
Schulze, A.1
Bachert, P.2
Schlemmer, H.3
-
18
-
-
0027994133
-
Creatine deficiency in the brain: A new treatable inborn error of metabolism
-
Stöckler S, Holzbach U, Hanefeld F, et al. (1994) Creatine deficiency in the brain: a new treatable inborn error of metabolism. Pediatr Res 36:409-413
-
(1994)
Pediatr Res
, vol.36
, pp. 409-413
-
-
Stöckler, S.1
Holzbach, U.2
Hanefeld, F.3
-
19
-
-
0030596907
-
Creatine replacement therapy in guanidinoacetate methyltransferase deficiency, a novel inborn error ofmetabolism
-
Stöckler S, Hanefeld F, Frahm J (1996a) Creatine replacement therapy in guanidinoacetate methyltransferase deficiency, a novel inborn error ofmetabolism. Lancet 348:789-790
-
(1996)
Lancet
, vol.348
, pp. 789-790
-
-
Stöckler, S.1
Hanefeld, F.2
Frahm, J.3
-
20
-
-
0029959969
-
Guanidinoacetate methyltransferase deficiency: The first inborn error of creatine metabolism in man
-
Stöckler S, Isbrandt D, Hanefeld F, Schmidt B, Figura K von (1996b) Guanidinoacetate methyltransferase deficiency: the first inborn error of creatine metabolism in man. Am J Hum Genet 58:914-922
-
(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
-
21
-
-
0030833384
-
Guanidino compounds in guanidinoacetate methyltransferase deficiency, a new inborn error of creatine synthesis
-
Stöckler S, Marescau B, De Deyn PP, Trijbels JMF, Hanefeld F (1997) Guanidino compounds in guanidinoacetate methyltransferase deficiency, a new inborn error of creatine synthesis. Metabolism 46:1189-1193
-
(1997)
Metabolism
, vol.46
, pp. 1189-1193
-
-
Stöckler, S.1
Marescau, B.2
De Deyn, P.P.3
Trijbels, J.M.F.4
Hanefeld, F.5
-
22
-
-
0038497516
-
Clinical characteristics and diagnostic clues in inborn errors of creatine metabolism
-
Stromberger C, Bodamer O, Stöckler-Ipsiroglu S (2003) Clinical characteristics and diagnostic clues in inborn errors of creatine metabolism. J InheritMetab Dis 26:299-308
-
(2003)
J InheritMetab Dis
, vol.26
, pp. 299-308
-
-
Stromberger, C.1
Bodamer, O.2
Stöckler-Ipsiroglu, S.3
-
23
-
-
0018373246
-
Creatine: Biosynthesis, regulation, and function
-
Walker JB (1979) Creatine: biosynthesis, regulation, and function. Adv Enzymol 50:177-242
-
(1979)
Adv Enzymol
, vol.50
, pp. 177-242
-
-
Walker, J.B.1
-
24
-
-
0037129967
-
Health implications of creatine:Can creatine supplementation protect against neurological and atherosclerotic disease?
-
Wyss M, Schulze A (2002) Health implications of creatine:can creatine supplementation protect against neurological and atherosclerotic disease? Neuroscience 112:243-260
-
(2002)
Neuroscience
, vol.112
, pp. 243-260
-
-
Wyss, M.1
Schulze, A.2
|