RS Carling, SL Hogg, TC Wood, J Calvin - Annals of Clinical Biochemistry, 2008 - acb.rsmjournals.com Background: Creatine plays an important role in the storage and transmission of
phosphate-bound energy. The cerebral creatine deficiency syndromes (CCDS)
comprise three inherited defects in creatine biosynthesis and transport. ... Related articles - All 5 versions
A Arias, M Corbella, C Fons, A Sempere, J … - Clinical Biochemistry, 2007 - Elsevier Thirty-three of 1600 cases showed increased urine creatine/creatinine ratio.
Four out of these thirty-three cases were definitively diagnosed with creatine
transporter deficiency, while the other 29 were false positive results. ... Cited by 7 - Related articles - All 2 versions
A Arias, A Ormazabal, J Moreno, B González, … - Journal of neuroscience methods, 2006 - Elsevier The increasing number of patients with creatine deficiency syndromes (CDS)
stresses the need to develop screening procedures for the identification these
inherited disorders. Guanidinoacetate (GAA) and creatine (Cr) are reliable ... Cited by 8 - Related articles - All 3 versions
NM Verhoeven, GS Salomons, C Jakobs - Clinica Chimica Acta, 2005 - Elsevier All three defects can be diagnosed by in vivo proton magnetic resonance
spectroscopy of the brain, which shows a severe reduction or absence of
creatine. Laboratory investigations for the diagnosis start with the ... Cited by 8 - Related articles - All 3 versions
- ►solacenutrition.com [PDF] LS Almeida, EH Rosenberg, NM Verhoeven, … - Future Neurol., 2006 - Future Medicine Cerebral creatine deficiency syndromes (CCDS) are responsible for a considerable
proportion of the population affected with mental retardation. CCDS are caused
by either an inborn error of the proteins involved in creatine biosynthesis ... Cited by 2 - Related articles - BL Direct - All 5 versions
- ►clinchem.org [PDF] D Cheillan, GS Salomons, C Acquaviva, C … - Clinical Chemistry, 2006 - Am Assoc Clin Chem This work was supported by the Fonds voor Wetenschappelijk Onder- zoek –
Vlaanderen (Grant G.0371. 02N), the Körber European Science Award 2004, and
EUROGLYCANET. ... References 1. Jaeken J, van Eijk HG, van der Heul C, ... Cited by 4 - Related articles - BL Direct - All 3 versions
C Valongo, ML Cardoso, P Domingues, L … - Clinica Chimica Acta, 2004 - Elsevier A new gas chromatography–mass spectrometry method for routine quantification
of urine creatine and guanidinoacetic acid (GAA) has been developed to provide a
fast, reliable and inexpensive metabolic screening. Our method uses a ... Cited by 11 - Related articles - All 3 versions
A Arias, J Garcia-Villoria, A Ribes - Molecular Genetics and Metabolism, 2004 - Elsevier We established an analytical methodology for guanidinoacetate and creatine
determination by gas chromatography–mass spectrometry with the use of stable
isotopes as internal standards. The method showed good precision and high ... Cited by 14 - Related articles - All 3 versions
