These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

232 related articles for article (PubMed ID: 17825809)

  • 1. Creatine transporter deficiency: prevalence among patients with mental retardation and pitfalls in metabolite screening.
    Arias A; Corbella M; Fons C; Sempere A; García-Villoria J; Ormazabal A; Poo P; Pineda M; Vilaseca MA; Campistol J; Briones P; Pàmpols T; Salomons GS; Ribes A; Artuch R
    Clin Biochem; 2007 Nov; 40(16-17):1328-31. PubMed ID: 17825809
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Creatine and creatine deficiency syndromes: biochemical and clinical aspects.
    Nasrallah F; Feki M; Kaabachi N
    Pediatr Neurol; 2010 Mar; 42(3):163-71. PubMed ID: 20159424
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Creatine and guanidinoacetate: diagnostic markers for inborn errors in creatine biosynthesis and transport.
    Almeida LS; Verhoeven NM; Roos B; Valongo C; Cardoso ML; Vilarinho L; Salomons GS; Jakobs C
    Mol Genet Metab; 2004 Jul; 82(3):214-9. PubMed ID: 15234334
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Methods for the diagnosis of creatine deficiency syndromes: a comparative study.
    Arias A; Ormazabal A; Moreno J; González B; Vilaseca MA; García-Villoria J; Pàmpols T; Briones P; Artuch R; Ribes A
    J Neurosci Methods; 2006 Sep; 156(1-2):305-9. PubMed ID: 16621013
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Congenital creatine transporter deficiency.
    deGrauw TJ; Salomons GS; Cecil KM; Chuck G; Newmeyer A; Schapiro MB; Jakobs C
    Neuropediatrics; 2002 Oct; 33(5):232-8. PubMed ID: 12536364
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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
    Ann Clin Biochem; 2008 Nov; 45(Pt 6):575-84. PubMed ID: 18782816
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Is there a role for routinely screening children with autism spectrum disorder for creatine deficiency syndrome?
    Wang L; Angley MT; Sorich MJ; Young RL; McKinnon RA; Gerber JP
    Autism Res; 2010 Oct; 3(5):268-72. PubMed ID: 20589913
    [TBL] [Abstract][Full Text] [Related]  

  • 8. [Cerebral creatine transporter deficiency: an infradiagnosed neurometabolic disease].
    Campistol J; Arias-Dimas A; Poo P; Pineda M; Hoffman M; Vilaseca MA; Artuch R; Ribes A
    Rev Neurol; 2007 Mar 16-31; 44(6):343-7. PubMed ID: 17385170
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Screening of male patients with autism spectrum disorder for creatine transporter deficiency.
    Newmeyer A; deGrauw T; Clark J; Chuck G; Salomons G
    Neuropediatrics; 2007 Dec; 38(6):310-2. PubMed ID: 18461508
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Inborn errors of creatine metabolism and epilepsy: clinical features, diagnosis, and treatment.
    Leuzzi V
    J Child Neurol; 2002 Dec; 17 Suppl 3():3S89-97; discussion 3S97. PubMed ID: 12597058
    [TBL] [Abstract][Full Text] [Related]  

  • 11. X-linked creatine deficiency syndrome: a novel mutation in creatine transporter gene SLC6A8.
    Bizzi A; Bugiani M; Salomons GS; Hunneman DH; Moroni I; Estienne M; Danesi U; Jakobs C; Uziel G
    Ann Neurol; 2002 Aug; 52(2):227-31. PubMed ID: 12210795
    [TBL] [Abstract][Full Text] [Related]  

  • 12. X-Linked creatine transporter deficiency in two patients with severe mental retardation and autism.
    Póo-Argüelles P; Arias A; Vilaseca MA; Ribes A; Artuch R; Sans-Fito A; Moreno A; Jakobs C; Salomons G
    J Inherit Metab Dis; 2006 Feb; 29(1):220-3. PubMed ID: 16601898
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Indolyl-3-acryloylglycine (IAG) is a putative diagnostic urinary marker for autism spectrum disorders.
    Bull G; Shattock P; Whiteley P; Anderson R; Groundwater PW; Lough JW; Lees G
    Med Sci Monit; 2003 Oct; 9(10):CR422-5. PubMed ID: 14523330
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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; Neophytou B; Moeslinger D; Struys E; Bodamer OA; Jakobs C; Stockler-Ipsiroglu S
    Mol Genet Metab; 2009 Apr; 96(4):273-5. PubMed ID: 19188083
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Diagnosis and therapeutic monitoring of inborn errors of creatine metabolism and transport using liquid chromatography-tandem mass spectrometry in urine, plasma and CSF.
    Haas D; Gan-Schreier H; Langhans CD; Anninos A; Haege G; Burgard P; Schulze A; Hoffmann GF; Okun JG
    Gene; 2014 Mar; 538(1):188-94. PubMed ID: 24440240
    [TBL] [Abstract][Full Text] [Related]  

  • 16. SLC6A8 creatine transporter deficiency can be detected by plasma creatine and creatinine concentrations.
    Sanders K; Peck D; Bentz Pino G; Studinski Jones A; White A; Gavrilov D; Matern D; Oglesbee D; Schultz M; Tortorelli S; Hall PL
    Mol Genet Metab; 2024 May; 142(1):108455. PubMed ID: 38531184
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Simultaneous high performance liquid chromatographic separation of purines, pyrimidines, N-acetylated amino acids, and dicarboxylic acids for the chemical diagnosis of inborn errors of metabolism.
    Tavazzi B; Lazzarino G; Leone P; Amorini AM; Bellia F; Janson CG; Di Pietro V; Ceccarelli L; Donzelli S; Francis JS; Giardina B
    Clin Biochem; 2005 Nov; 38(11):997-1008. PubMed ID: 16139832
    [TBL] [Abstract][Full Text] [Related]  

  • 18. A simple screening method using ion chromatography for the diagnosis of cerebral creatine deficiency syndromes.
    Wada T; Shimbo H; Osaka H
    Amino Acids; 2012 Aug; 43(2):993-7. PubMed ID: 22080216
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Guanidinoacetate and creatine/creatinine levels in controls and patients with urea cycle defects.
    Arias A; Garcia-Villoria J; Ribes A
    Mol Genet Metab; 2004 Jul; 82(3):220-3. PubMed ID: 15234335
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Creatine deficiency syndromes.
    Schulze A
    Handb Clin Neurol; 2013; 113():1837-43. PubMed ID: 23622406
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 12.