BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

289 related articles for article (PubMed ID: 12889668)

  • 1. Clinical characteristics and diagnostic clues in inborn errors of creatine metabolism.
    Stromberger C; Bodamer OA; Stöckler-Ipsiroglu S
    J Inherit Metab Dis; 2003; 26(2-3):299-308. PubMed ID: 12889668
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Biochemical and clinical characteristics of creatine deficiency syndromes.
    Sykut-Cegielska J; Gradowska W; Mercimek-Mahmutoglu S; Stöckler-Ipsiroglu S
    Acta Biochim Pol; 2004; 51(4):875-82. PubMed ID: 15625559
    [TBL] [Abstract][Full Text] [Related]  

  • 3. [Creatine deficiency syndromes].
    Cheillan D; Cognat S; Vandenberghe N; Des Portes V; Vianey-Saban C
    Rev Neurol (Paris); 2005 Mar; 161(3):284-9. PubMed ID: 15800449
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Creatine deficiency syndromes.
    Schulze A
    Mol Cell Biochem; 2003 Feb; 244(1-2):143-50. PubMed ID: 12701824
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Cerebral creatine deficiencies: a group of treatable intellectual developmental disorders.
    Stockler-Ipsiroglu S; van Karnebeek CD
    Semin Neurol; 2014 Jul; 34(3):350-6. PubMed ID: 25192512
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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]  

  • 7. [Diagnosis and treatment of brain creatine deficiency syndromes].
    Arias-Dimas A; Vilaseca MA; Artuch R; Ribes A; Campistol J
    Rev Neurol; 2006 Sep 1-15; 43(5):302-8. PubMed ID: 16941429
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Cerebral creatine deficiency syndromes: clinical aspects, treatment and pathophysiology.
    Stockler S; Schutz PW; Salomons GS
    Subcell Biochem; 2007; 46():149-66. PubMed ID: 18652076
    [TBL] [Abstract][Full Text] [Related]  

  • 9. ClinGen variant curation expert panel recommendations for classification of variants in GAMT, GATM and SLC6A8 for cerebral creatine deficiency syndromes.
    Goldstein J; Thomas-Wilson A; Groopman E; Aggarwal V; Bianconi S; Fernandez R; Hart K; Longo N; Liang N; Reich D; Wallis H; Weaver M; Young S; Mercimek-Andrews S
    Mol Genet Metab; 2024 May; 142(1):108362. PubMed ID: 38452609
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Guanidinoacetate and creatine plus creatinine assessment in physiologic fluids: an effective diagnostic tool for the biochemical diagnosis of arginine:glycine amidinotransferase and guanidinoacetate methyltransferase deficiencies.
    Carducci C; Birarelli M; Leuzzi V; Carducci C; Battini R; Cioni G; Antonozzi I
    Clin Chem; 2002 Oct; 48(10):1772-8. PubMed ID: 12324495
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Inborn errors of creatine metabolism and epilepsy.
    Leuzzi V; Mastrangelo M; Battini R; Cioni G
    Epilepsia; 2013 Feb; 54(2):217-27. PubMed ID: 23157605
    [TBL] [Abstract][Full Text] [Related]  

  • 12. AGAT, GAMT and SLC6A8 distribution in the central nervous system, in relation to creatine deficiency syndromes: a review.
    Braissant O; Henry H
    J Inherit Metab Dis; 2008 Apr; 31(2):230-9. PubMed ID: 18392746
    [TBL] [Abstract][Full Text] [Related]  

  • 13. [Cerebral creatine deficiency: first Spanish patients harbouring mutations in GAMT gene].
    Sempere A; Fons C; Arias A; Rodríguez-Pombo P; Merinero B; Alcaide P; Capdevila A; Ribes A; Duque R; Eirís J; Poo P; Fernández-Alvarez E; Campistol J; Artuch R
    Med Clin (Barc); 2009 Nov; 133(19):745-9. PubMed ID: 19892372
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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]  

  • 15. Guanidinoacetate methyltransferase deficiency: the first inborn error of creatine metabolism in man.
    Stöckler S; Isbrandt D; Hanefeld F; Schmidt B; von Figura K
    Am J Hum Genet; 1996 May; 58(5):914-22. PubMed ID: 8651275
    [TBL] [Abstract][Full Text] [Related]  

  • 16. MR spectroscopy of muscle and brain in guanidinoacetate methyltransferase (GAMT)-deficient mice: validation of an animal model to study creatine deficiency.
    Renema WK; Schmidt A; van Asten JJ; Oerlemans F; Ullrich K; Wieringa B; Isbrandt D; Heerschap A
    Magn Reson Med; 2003 Nov; 50(5):936-43. PubMed ID: 14587004
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Guanidinoacetate methyltransferase (GAMT) deficiency: non-invasive enzymatic diagnosis of a newly recognized inborn error of metabolism.
    Ilas J; Mühl A; Stöckler-Ipsiroglu S
    Clin Chim Acta; 2000 Jan; 290(2):179-88. PubMed ID: 10660808
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Creatine depletion in a new case with AGAT deficiency: clinical and genetic study in a large pedigree.
    Battini R; Leuzzi V; Carducci C; Tosetti M; Bianchi MC; Item CB; Stöckler-Ipsiroglu S; Cioni G
    Mol Genet Metab; 2002 Dec; 77(4):326-31. PubMed ID: 12468279
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Disorders of creatine transport and metabolism.
    Longo N; Ardon O; Vanzo R; Schwartz E; Pasquali M
    Am J Med Genet C Semin Med Genet; 2011 Feb; 157C(1):72-8. PubMed ID: 21308988
    [TBL] [Abstract][Full Text] [Related]  

  • 20.
    ; ; . PubMed ID:
    [No Abstract]   [Full Text] [Related]  

    [Next]    [New Search]
    of 15.