메뉴 건너뛰기




Volumn , Issue , 2012, Pages 239-247

Creatine deficiency syndromes

Author keywords

[No Author keywords available]

Indexed keywords


EID: 84956691135     PISSN: None     EISSN: None     Source Type: Book    
DOI: 10.1007/978-3-642-15720-2_16     Document Type: Chapter
Times cited : (16)

References (65)
  • 1
    • 84887611367 scopus 로고    scopus 로고
    • Creatine deficiency syndromes
    • University of Washington, Seattle. 1997-2011
    • Mercimek-Mahmutoglu S, Stockler-Ipsiroglu S (Updated 2009) Creatine deficiency syndromes. In: GeneReviews at GeneTests: Medical Genetics Information Resource (database online). Copyright, University of Washington, Seattle. 1997-2011. Available at http://www.genetests.org
    • (2009) Genereviews
    • Mercimek-Mahmutoglu, S.1    Stockler-Ipsiroglu, S.2
  • 2
    • 43849095420 scopus 로고    scopus 로고
    • Cerebral creatine deficiency syndromes: Clinical aspects, treatment and pathophysiology
    • Stockler S, Schutz PW, Salomons GS (2007) Cerebral creatine deficiency syndromes: clinical aspects, treatment and pathophysiology. Subcell Biochem 46:149-166
    • (2007) Subcell Biochem , vol.46 , pp. 149-166
    • Stockler, S.1    Schutz, P.W.2    Salomons, G.S.3
  • 3
    • 0027994133 scopus 로고
    • Creatine deficiency in the brain: A new treatable inborn error of metabolism
    • Stockler 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
    • Stockler, S.1    Holzbach, U.2    Hanefeld, F.3
  • 4
    • 0029959969 scopus 로고    scopus 로고
    • Guanidinoacetate methyltransferase deficiency: The first inborn error of creatine metabolism in man
    • Stockler S, Isbrandt D, Hanefeld F et al. (1996) 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
    • Stockler, S.1    Isbrandt, D.2    Hanefeld, F.3
  • 5
    • 84895388990 scopus 로고    scopus 로고
    • Clinical, biochemical and molecular features of guanidinoacetate methyltransferase deficiency
    • Mercimek-Mahmutoglu S, Stockler-Ipsiroglu S, Adami A et al. (2006) Clinical, biochemical and molecular features of guanidinoacetate methyltransferase deficiency. Neurology 67:480-484
    • (2006) Neurology , vol.67 , pp. 480-484
    • Mercimek-Mahmutoglu, S.1    Stockler-Ipsiroglu, S.2    Adami, A.3
  • 6
    • 57649097137 scopus 로고    scopus 로고
    • Expanded clinical and molecular spectrum of guanidinoacetate methyltransferase (GAMT) deficiency
    • Dhar SU, Scaglia F, Li FY, Smith L et al. (2009) Expanded clinical and molecular spectrum of guanidinoacetate methyltransferase (GAMT) deficiency. Mol Genet Metab 96:38-43
    • (2009) Mol Genet Metab , vol.96 , pp. 38-43
    • Dhar, S.U.1    Scaglia, F.2    Li, F.Y.3    Smith, L.4
  • 7
    • 33847779526 scopus 로고    scopus 로고
    • Guanidinoacetate methyltransferase deficiency masquerading as a mitochondrial encephalopathy
    • Morris AA, Appleton RE, Power B et al. (2007) Guanidinoacetate methyltransferase deficiency masquerading as a mitochondrial encephalopathy. J Inherit Metab Dis 30:100
    • (2007) J Inherit Metab Dis , vol.30 , pp. 100
    • Morris, A.A.1    Appleton, R.E.2    Power, B.3
  • 8
    • 64849083340 scopus 로고    scopus 로고
    • Guanidinoacetate methyltransferase (GAMT) deficiency: Late onset of movement disorder and preserved expressive language
    • O’Rourke DJ, Ryan S, Salomons G et al. (2009) Guanidinoacetate methyltransferase (GAMT) deficiency: late onset of movement disorder and preserved expressive language. Dev Med Child Neurol 51:404-407
    • (2009) Dev Med Child Neurol , vol.51 , pp. 404-407
    • O’Rourke, D.J.1    Ryan, S.2    Salomons, G.3
  • 9
    • 0034077740 scopus 로고    scopus 로고
    • Reversible brain creatine deficiency in two sisters with normal blood creatine level
    • Bianchi MC, Tosetti M, Fornai F et al. (2002) Reversible brain creatine deficiency in two sisters with normal blood creatine level. Ann Neurol 47: 511-513
    • (2002) Ann Neurol , vol.47 , pp. 511-513
    • Bianchi, M.C.1    Tosetti, M.2    Fornai, F.3
  • 10
    • 0034764751 scopus 로고    scopus 로고
    • Arginine:Glycine amindinotransferase (AGAT) deficiency: The third inborn error of creatine metabolism in humans
    • Item CB, Stockler-Ipsiroglu S, Stromberger C et al. (2001) Arginine:glycine amindinotransferase (AGAT) deficiency: the third inborn error of creatine metabolism in humans. Am J Hum Genet 69:1127-1133
    • (2001) Am J Hum Genet , vol.69 , pp. 1127-1133
    • Item, C.B.1    Stockler-Ipsiroglu, S.2    Stromberger, C.3
  • 11
    • 12244277899 scopus 로고    scopus 로고
    • 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
  • 12
    • 33745016252 scopus 로고    scopus 로고
    • Arginine:Glycine amidinotransferase (AGAT) deficiency in a newborn: Early treatment can prevent phenotypic expression of the disease
    • Battini R, Alessandri MG, Leuzzi V et al. i (2006) Arginine:glycine amidinotransferase (AGAT) deficiency in a newborn: early treatment can prevent phenotypic expression of the disease. J Pediatr 148:828-830
    • (2006) J Pediatr , vol.148 , pp. 828-830
    • Battini, R.1    Alessandri, M.G.2    Leuzzi, V.3
  • 13
    • 84946841465 scopus 로고    scopus 로고
    • The second family with AGAT deficiency (Creatine biosynthesis defect): Diagnosis, treatment and the first prenatal diagnosis (abstract)
    • Salt Lake City, Utah
    • Johnston K, Plawner L, Cooper L et al. (2005) The second family with AGAT deficiency (creatine biosynthesis defect): diagnosis, treatment and the first prenatal diagnosis (abstract). In: Proceedings of the Annual Meeting of the American Society of Human Genetics, Salt Lake City, Utah, p 58
    • (2005) Proceedings of the Annual Meeting of the American Society of Human Genetics , pp. 58
    • Johnston, K.1    Plawner, L.2    Cooper, L.3
  • 14
    • 77957308438 scopus 로고    scopus 로고
    • L-Arginine:Glycine amidinotransferase (AGAT) deficiency: Clinical presentation and response to treatment in two patients with a novel mutation
    • Edvardson S, Korman SH, Livne A et al. (2010) l-Arginine:glycine amidinotransferase (AGAT) deficiency: clinical presentation and response to treatment in two patients with a novel mutation. Mol Genet Metab 101:228-32
    • (2010) Mol Genet Metab , vol.101 , pp. 228-232
    • Edvardson, S.1    Korman, S.H.2    Livne, A.3
  • 15
    • 0034987448 scopus 로고    scopus 로고
    • X-Linked creatine-transporter gene (SLC6A8) defect: A new creatine-deficiency syndrome
    • Salomons GS, Dooren v SJ, Verhoeven NM et al. (2001) X-Linked creatine-transporter gene (SLC6A8) defect: a new creatine-deficiency syndrome. Am J Hum Genet 68:1497-1500
    • (2001) Am J Hum Genet , vol.68 , pp. 1497-1500
    • Salomons, G.S.1    Dooren V, S.J.2    Verhoeven, N.M.3
  • 16
    • 0035098030 scopus 로고    scopus 로고
    • Irreversible brain creatine deficiency with elevated serum and urine creatine: A creatine transporter defect?
    • Cecil KM, Salomons GS, Ball WS Jr et al. (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, W.S.3
  • 17
    • 85027949839 scopus 로고    scopus 로고
    • Characterization of novel SLC6A8 variants with the use of splice-site analysis tools and implementation of a newly developed LOVD database
    • Betsalel OT, Rosenberg EH, Almeida LS et al. (2011) Characterization of novel SLC6A8 variants with the use of splice-site analysis tools and implementation of a newly developed LOVD database. Eur J Hum Genet 19:56-63
    • (2011) Eur J Hum Genet , vol.19 , pp. 56-63
    • Betsalel, O.T.1    Rosenberg, E.H.2    Almeida, L.S.3
  • 19
    • 0037306621 scopus 로고    scopus 로고
    • The clinical syndrome of creatine transporter deficiency
    • DeGrauw TJ, Cecil KM, Byars AW et al. (2003) The clinical syndrome of creatine transporter deficiency. Mol Cell Biochem 244:45-48
    • (2003) Mol Cell Biochem , vol.244 , pp. 45-48
    • Degrauw, T.J.1    Cecil, K.M.2    Byars, A.W.3
  • 20
    • 19944427684 scopus 로고    scopus 로고
    • 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 et al. (2004) Two novel mutations in SLC6A8 cause creatine transporter defect and distinctive X-linked mental retardation in two unrelated Dutch families. Am J Med Genet 132:288-295
    • (2004) Am J Med Genet , vol.132 , pp. 288-295
    • Mancini, G.M.1    Catsman-Berrevoets, C.E.2    De Coo, I.F.3
  • 21
    • 18344367230 scopus 로고    scopus 로고
    • X-Linked mental retardation with seizures and carrier manifestations is caused by a mutation in the creatine-transporter gene (SLC6A8) located in Xq28
    • Hahn KA, Salomons GS, Tackels-Horne D et al. (2002) X-Linked mental retardation with seizures and carrier manifestations is caused by a mutation in the creatine-transporter gene (SLC6A8) located in Xq28. Am J Hum Genet 70:1349-1356
    • (2002) Am J Hum Genet , vol.70 , pp. 1349-1356
    • Hahn, K.A.1    Salomons, G.S.2    Tackels-Horne, D.3
  • 22
    • 25144432498 scopus 로고    scopus 로고
    • Progressive intestinal, neurological and psychiatric problems in two adult males with cerebral creatine deficiency caused by an SLC6A8 mutation
    • Kleefstra T, Rosenberg EH, Salomons GS et al. (2005) Progressive intestinal, neurological and psychiatric problems in two adult males with cerebral creatine deficiency caused by an SLC6A8 mutation. Clin Genet 68:379-381
    • (2005) Clin Genet , vol.68 , pp. 379-381
    • Kleefstra, T.1    Rosenberg, E.H.2    Salomons, G.S.3
  • 23
    • 42949158785 scopus 로고    scopus 로고
    • Cardiac manifestations in a child with a novel mutation in creatine transporter gene SLC6A8
    • Anselm IA, Coulter DL, Darras BT (2008) Cardiac manifestations in a child with a novel mutation in creatine transporter gene SLC6A8. Neurology 29/70:1642-1644
    • (2008) Neurology , vol.29 , Issue.70 , pp. 1642-1644
    • Anselm, I.A.1    Coulter, D.L.2    Darras, B.T.3
  • 24
    • 69149097052 scopus 로고    scopus 로고
    • Epilepsy spectrum in cerebral creatine transporter deficiency
    • Fons C, Sempere A, Sanmarti FX et al. (2009) Epilepsy spectrum in cerebral creatine transporter deficiency. Epilepsia 50:2168-2170
    • (2009) Epilepsia , vol.50 , pp. 2168-2170
    • Fons, C.1    Sempere, A.2    Sanmarti, F.X.3
  • 25
    • 34249783450 scopus 로고    scopus 로고
    • Severe epilepsy in X-linked creatine transporter defect (CRTR-D)
    • Mancardi MM, Caruso U, Schiaffino MC et al. (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
  • 26
    • 78649335547 scopus 로고    scopus 로고
    • Treatment of intractable epilepsy in a female with SLC6A8 deficiency
    • Mercimek-Mahmutoglu S, Connolly MB, Poskitt K et al. (2010) Treatment of intractable epilepsy in a female with SLC6A8 deficiency. Mol Genet Metab 101:409-12
    • (2010) Mol Genet Metab , vol.101 , pp. 409-412
    • Mercimek-Mahmutoglu, S.1    Connolly, M.B.2    Poskitt, K.3
  • 27
    • 79551651557 scopus 로고    scopus 로고
    • Clinical features and X-inactivation in females heterozygous for creatine transporter defect
    • Kamp v d JM, Mancini GM, Pouwels PJ et al. (2011) Clinical features and X-inactivation in females heterozygous for creatine transporter defect. Clin Genet 79:264-72
    • (2011) Clin Genet , vol.79 , pp. 264-272
    • Kamp V D, J.M.1    Mancini, G.M.2    Pouwels, P.J.3
  • 28
    • 3042544793 scopus 로고    scopus 로고
    • High prevalence of SLC6A8 deficiency in X-linked mental retardation
    • Rosenberg EH, Almeida LS, Kleefstra T et al. (2004) High prevalence of SLC6A8 deficiency in X-linked mental retardation. Am J Hum Genet 75:97-105
    • (2004) Am J Hum Genet , vol.75 , pp. 97-105
    • Rosenberg, E.H.1    Almeida, L.S.2    Kleefstra, T.3
  • 29
    • 24644493709 scopus 로고    scopus 로고
    • Incidence of brain creatine transporter deficiency in males with developmental delay referred for brain magnetic resonance imaging
    • Newmeyer A, Cecil KM, Schapiro M, Clark JF, Degrauw TJ (2005) Incidence of brain creatine transporter deficiency in males with developmental delay referred for brain magnetic resonance imaging. J Dev Behav Pediatr 26:276-282
    • (2005) J Dev Behav Pediatr , vol.26 , pp. 276-282
    • Newmeyer, A.1    Cecil, K.M.2    Schapiro, M.3    Clark, J.F.4    Degrauw, T.J.5
  • 30
    • 33744473608 scopus 로고    scopus 로고
    • X-Linked creatine transporter (SLC6A8) mutations in about 1% of males with mental retardation of unknown etiology
    • Clark AJ, Rosenberg EH, Almeida LS et al. (2006) X-Linked creatine transporter (SLC6A8) mutations in about 1% of males with mental retardation of unknown etiology. Hum Genet 119:604-610
    • (2006) Hum Genet , vol.119 , pp. 604-610
    • Clark, A.J.1    Rosenberg, E.H.2    Almeida, L.S.3
  • 31
    • 33750972301 scopus 로고    scopus 로고
    • High frequency of creatine deficiency syndromes in patients with unexplained mental retardation
    • Lion-Francois L, Cheillan D, Pitelet G et al. (2006) High frequency of creatine deficiency syndromes in patients with unexplained mental retardation. Neurology 67:1713-1714
    • (2006) Neurology , vol.67 , pp. 1713-1714
    • Lion-Francois, L.1    Cheillan, D.2    Pitelet, G.3
  • 32
    • 35248884675 scopus 로고    scopus 로고
    • Creatine transporter deficiency: Prevalence among patients with mental retardation and pitfalls in metabolite screening
    • Arias A, Corbella M, Fons C et al. (2007) Creatine transporter deficiency: prevalence among patients with mental retardation and pitfalls in metabolite screening. Clin Biochem 40:1328-1331
    • (2007) Clin Biochem , vol.40 , pp. 1328-1331
    • Arias, A.1    Corbella, M.2    Fons, C.3
  • 34
    • 0037309446 scopus 로고    scopus 로고
    • 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
  • 35
    • 3242700748 scopus 로고    scopus 로고
    • Guanidinoacetate methyltransferase deficiency: Differences of creatine uptake in human brain and muscle
    • Ensenauer R, Thiel T, Schwab KO et al. (2004) Guanidinoacetate methyltransferase deficiency: differences of creatine uptake in human brain and muscle. Mol Genet Metab 82:208-213
    • (2004) Mol Genet Metab , vol.82 , pp. 208-213
    • Ensenauer, R.1    Thiel, T.2    Schwab, K.O.3
  • 36
    • 3242725272 scopus 로고    scopus 로고
    • Creatine and guanidinoacetate: Diagnostic markers for inborn errors in creatine biosynthesis and transport
    • Almeida LS, Verhoeven NM, Roos B et al. (2004) Creatine and guanidinoacetate: diagnostic markers for inborn errors in creatine biosynthesis and transport. Mol Genet Metab 82:214-219
    • (2004) Mol Genet Metab , vol.82 , pp. 214-219
    • Almeida, L.S.1    Verhoeven, N.M.2    Roos, B.3
  • 38
    • 33749156389 scopus 로고    scopus 로고
    • High cerebral guanidinoacetate and variable creatine concentrations in argininosuccinate synthetase and lyase deficiency: Implications for treatment
    • Spronsen v FJ, Reijngoud DJ, Verhoeven NM et al. (2006) High cerebral guanidinoacetate and variable creatine concentrations in argininosuccinate synthetase and lyase deficiency: implications for treatment. Mol Genet Metab 89:274-276
    • (2006) Mol Genet Metab , vol.89 , pp. 274-276
    • Spronsen V, F.J.1    Reijngoud, D.J.2    Verhoeven, N.M.3
  • 39
    • 4243514833 scopus 로고    scopus 로고
    • Reduced brain creatine in gyrate atrophy of the choroid and retina with hyperornithinemia
    • Nanto-Salonen K, Komu M, Lundbom N et al. (1999) Reduced brain creatine in gyrate atrophy of the choroid and retina with hyperornithinemia. Neurology 53:303-307
    • (1999) Neurology , vol.53 , pp. 303-307
    • Nanto-Salonen, K.1    Komu, M.2    Lundbom, N.3
  • 40
    • 16344367259 scopus 로고    scopus 로고
    • Creatine metabolism in combined methylmalonic aciduria and homocystinuria
    • Bodamer OA, Sahoo T, Beaudet AL et al. (2005) Creatine metabolism in combined methylmalonic aciduria and homocystinuria. Ann Neurol 57:557-560
    • (2005) Ann Neurol , vol.57 , pp. 557-560
    • Bodamer, O.A.1    Sahoo, T.2    Beaudet, A.L.3
  • 41
    • 46149112586 scopus 로고    scopus 로고
    • Detection of low-level somatic and germline mosaicism by denaturing high-performance liquid chromatography in a EURO-MRX family with SLC6A8 deficiency
    • Betsalel OT, Kamp v d JM, Martinez-Munoz C et al. (2008) Detection of low-level somatic and germline mosaicism by denaturing high-performance liquid chromatography in a EURO-MRX family with SLC6A8 deficiency. Neurogenetics 9:183-190
    • (2008) Neurogenetics , vol.9 , pp. 183-190
    • Betsalel, O.T.1    Kamp V D, J.M.2    Martinez-Munoz, C.3
  • 43
    • 34047254531 scopus 로고    scopus 로고
    • A prevalent pathogenic GAMT mutation (C.59G>C) in Portugal
    • Almeida LS, Vilarinho L, Darmin PS et al. (2007) A prevalent pathogenic GAMT mutation (c.59G>C) in Portugal. Mol Genet Metab 91:1-6
    • (2007) Mol Genet Metab , vol.91 , pp. 1-6
    • Almeida, L.S.1    Vilarinho, L.2    Darmin, P.S.3
  • 44
    • 33747190052 scopus 로고    scopus 로고
    • Methods for the diagnosis of creatine deficiency syndromes: A comparative study
    • Arias A, Ormazabal A, Moreno J et al. (2006) Methods for the diagnosis of creatine deficiency syndromes: a comparative study. J Neurosci Methods 156:305-309
    • (2006) J Neurosci Methods , vol.156 , pp. 305-309
    • Arias, A.1    Ormazabal, A.2    Moreno, J.3
  • 45
    • 44249089287 scopus 로고    scopus 로고
    • Quantification of creatine and guanidinoacetate using GC-MS and LC-MS/MS for the detection of cerebral creatine deficiency syndromes
    • Young S, Struys E, Wood T (2007) Quantification of creatine and guanidinoacetate using GC-MS and LC-MS/MS for the detection of cerebral creatine deficiency syndromes. Curr Protoc Hum Genet, chap 17, Unit 17.3
    • (2007) Curr Protoc Hum Genet
    • Young, S.1    Struys, E.2    Wood, T.3
  • 46
    • 55949087415 scopus 로고    scopus 로고
    • Simultaneous determination of guanidinoacetate, creatine and creatinine in urine and plasma by un-derivatized liquid chromatography-tandem mass spectrometry
    • Carling RS, Hogg SL, Wood TC, Calvin J (2008) Simultaneous determination of guanidinoacetate, creatine and creatinine in urine and plasma by un-derivatized liquid chromatography-tandem mass spectrometry. Ann Clin Biochem 45:575-584
    • (2008) Ann Clin Biochem , vol.45 , pp. 575-584
    • Carling, R.S.1    Hogg, S.L.2    Wood, T.C.3    Calvin, J.4
  • 47
    • 61849132226 scopus 로고    scopus 로고
    • Screening for X-linked creatine transporter (SLC6A8) deficiency via simultaneous determination of urinary creatine to creatinine ratio by tandem mass-spectrometry
    • Mercimek-Mahmutoglu S, Muehl A, Salomons GS et al. (2009) Screening for X-linked creatine transporter (SLC6A8) deficiency via simultaneous determination of urinary creatine to creatinine ratio by tandem mass-spectrometry. Mol Genet Metab 96:273-275
    • (2009) Mol Genet Metab , vol.96 , pp. 273-275
    • Mercimek-Mahmutoglu, S.1    Muehl, A.2    Salomons, G.S.3
  • 48
    • 4444293116 scopus 로고    scopus 로고
    • Age related reference values for urine creatine and guanidinoacetic acid concentration in children and adolescents by gas chromatographymass spectrometry
    • Valongo C, Cardoso ML, Domingues P et al. (2004) Age related reference values for urine creatine and guanidinoacetic acid concentration in children and adolescents by gas chromatographymass spectrometry. Clin Chim Acta 348:155-161
    • (2004) Clin Chim Acta , vol.348 , pp. 155-161
    • Valongo, C.1    Cardoso, M.L.2    Domingues, P.3
  • 49
  • 50
    • 31044443726 scopus 로고    scopus 로고
    • Quantitative determination of guanidinoacetate and creatine in dried blood spot by flow injection analysis-electrospray tandem mass spectrometry
    • Carducci C, Santagata S, Leuzzi V et al. (2006) Quantitative determination of guanidinoacetate and creatine in dried blood spot by flow injection analysis-electrospray tandem mass spectrometry. Clin Chim Acta 364:180-187
    • (2006) Clin Chim Acta , vol.364 , pp. 180-187
    • Carducci, C.1    Santagata, S.2    Leuzzi, V.3
  • 51
    • 4444319288 scopus 로고    scopus 로고
    • Characterization of seven novel mutations in seven patients with GAMT deficiency
    • Item CB, Mercimek-Mahmutoglu S, Battini R et al. (2004) Characterization of seven novel mutations in seven patients with GAMT deficiency. Hum Mutat 23:524
    • (2004) Hum Mutat , vol.23 , pp. 524
    • Item, C.B.1    Mercimek-Mahmutoglu, S.2    Battini, R.3
  • 52
    • 26244454610 scopus 로고    scopus 로고
    • Use of denaturing HPLC to provide efficient detection of mutations causing guanidinoacetate methyltransferase deficiency
    • Item CB, Stockler-Ipsiroglu S, Willheim C, Muhl A, Bodamer OA (2005) Use of denaturing HPLC to provide efficient detection of mutations causing guanidinoacetate methyltransferase deficiency. Mol Genet Metab 86:328-334
    • (2005) Mol Genet Metab , vol.86 , pp. 328-334
    • Item, C.B.1    Stockler-Ipsiroglu, S.2    Willheim, C.3    Muhl, A.4    Bodamer, O.A.5
  • 53
    • 0037407471 scopus 로고    scopus 로고
    • Diagnostic enzyme assay that uses stable-isotope-labeled substrates to detect l-arginine:Glycine amidinotransferase deficiency
    • Verhoeven NM, Schor DS, Roos B et al. (2003) Diagnostic enzyme assay that uses stable-isotope-labeled substrates to detect l-arginine:glycine amidinotransferase deficiency. Clin Chem 49:803-805
    • (2003) Clin Chem , vol.49 , pp. 803-805
    • Verhoeven, N.M.1    Schor, D.S.2    Roos, B.3
  • 54
    • 0742321917 scopus 로고    scopus 로고
    • Enzyme assay for diagnosis of guanidinoacetate methyltransferase deficiency
    • Verhoeven NM, Roos B, Struys EA et al. (2004) Enzyme assay for diagnosis of guanidinoacetate methyltransferase deficiency. Clin Chem 50:441-443
    • (2004) Clin Chem , vol.50 , pp. 441-443
    • Verhoeven, N.M.1    Roos, B.2    Struys, E.A.3
  • 55
    • 34848909017 scopus 로고    scopus 로고
    • Functional characterization of missense variants in the creatine transporter gene (SLC6A8): Improved diagnostic application
    • Rosenberg EH, Martinez Munoz C, Betsalel OT et al. (2007) Functional characterization of missense variants in the creatine transporter gene (SLC6A8): improved diagnostic application. Hum Mutat 28:890-896
    • (2007) Hum Mutat , vol.28 , pp. 890-896
    • Rosenberg, E.H.1    Martinez Munoz, C.2    Betsalel, O.T.3
  • 56
    • 33645459909 scopus 로고    scopus 로고
    • Prenatal diagnosis of guanidinoacetate methyltransferase deficiency: Increased guanidinoacetate concentrations in amniotic fluid
    • Cheillan D, Salomons GS, Acquaviva C et al. (2006) Prenatal diagnosis of guanidinoacetate methyltransferase deficiency: increased guanidinoacetate concentrations in amniotic fluid. Clin Chem 52:775-777
    • (2006) Clin Chem , vol.52 , pp. 775-777
    • Cheillan, D.1    Salomons, G.S.2    Acquaviva, C.3
  • 57
    • 0030596907 scopus 로고    scopus 로고
    • Creatine replacement therapy in guanidinoacetate methyltransferase deficiency, a novel inborn error of metabolism
    • Stockler S, Hanefeld F, Frahm J (1996) Creatine replacement therapy in guanidinoacetate methyltransferase deficiency, a novel inborn error of metabolism. Lancet 348: 789-790
    • (1996) Lancet , vol.348 , pp. 789-790
    • Stockler, S.1    Hanefeld, F.2    Frahm, J.3
  • 58
    • 0035694594 scopus 로고    scopus 로고
    • 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
  • 60
    • 0030833384 scopus 로고    scopus 로고
    • Guanidino compounds in guanidinoacetate methyltransferase deficiency, a new inborn error of creatine synthesis
    • Stockler S, Marescau B, De Deyn PP et al. (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
    • Stockler, S.1    Marescau, B.2    De Deyn, P.P.3
  • 61
    • 33747680298 scopus 로고    scopus 로고
    • Presymptomatic treatment of neonatal guanidinoacetate methyltransferase deficiency
    • Schulze A, Hoffmann GF, Bachert P et al. (2006) Presymptomatic treatment of neonatal guanidinoacetate methyltransferase deficiency. Neurology 67:719-721
    • (2006) Neurology , vol.67 , pp. 719-721
    • Schulze, A.1    Hoffmann, G.F.2    Bachert, P.3
  • 62
    • 84956646201 scopus 로고    scopus 로고
    • Newborn screening for GAMT deficiency: Experience with guanidinoacetate by FIA-MS/MS and UPLC-MS/MS second tier testing
    • Sweetman L, Ashcraft P (2010) Newborn screening for GAMT deficiency: experience with guanidinoacetate by FIA-MS/MS and UPLC-MS/MS second tier testing. J Inherit Metab Dis 33 [Suppl 1]:S98
    • (2010) J Inherit Metab Dis , vol.33
    • Sweetman, L.1    Ashcraft, P.2
  • 63
    • 36049036264 scopus 로고    scopus 로고
    • Expression and function of AGAT, GAMT and CT1 in the mammalian brain
    • Braissant O, Bachmann C, Henry H (2007) Expression and function of AGAT, GAMT and CT1 in the mammalian brain. Subcell Biochem 46:67-81
    • (2007) Subcell Biochem , vol.46 , pp. 67-81
    • Braissant, O.1    Bachmann, C.2    Henry, H.3
  • 64
    • 47149101533 scopus 로고    scopus 로고
    • Treatment with l-arginine improves neuropsychological disorders in a child with creatine transporter defect
    • Chilosi A, Leuzzi V, Battini R et al. (2008) Treatment with l-arginine improves neuropsychological disorders in a child with creatine transporter defect. Neurocase 14:151-161
    • (2008) Neurocase , vol.14 , pp. 151-161
    • Chilosi, A.1    Leuzzi, V.2    Battini, R.3
  • 65
    • 57649159177 scopus 로고    scopus 로고
    • Arginine supplementation in four patients with X-linked creatine transporter defect
    • Fons C, Sempere A, Arias A et al. (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


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.