Prenatal Diagnosis of Guanidinoacetate Methyltransferase Deficiency: Increased Guanidinoacetate Concentrations in Amniotic Fluid-Reference-Cited by-同舟云学术

Prenatal Diagnosis of Guanidinoacetate Methyltransferase Deficiency: Increased Guanidinoacetate Concentrations in Amniotic Fluid

Published:2006-04-01 Issue:4 Volume:52 Page:775-777
ISSN:0009-9147
Container-title:Clinical Chemistry
language:en
Short-container-title:

Author:

Cheillan David¹,Salomons Gajja S²,Acquaviva Cécile¹,Boisson Catherine³,Roth Philippe⁴,Cordier Marie-Pierre⁴,François Laurence⁵,Jakobs Cornelis²,Vianey-Saban Christine¹

Affiliation:

1. Service de Biochimie Pédiatrique and

2. VU University Medical Center Amsterdam, The Netherlands

3. Unité de Biologie Foetomaternelle Centre de Biologie Nord Hôpital de la Croix-Rousse Lyon, France

4. Centre Pluridisciplinaire de Diagnostic Prénatal Hôpital E Herriot Lyon, France

5. Service de Neuropédiatrie Hôpital Debrousse Lyon, France

Publisher

Oxford University Press (OUP)

Subject

Biochemistry (medical),Clinical Biochemistry

Link

http://academic.oup.com/clinchem/article-pdf/52/4/775/32687025/clinchem0775.pdf

Reference5 articles.

1. Stromberger C, Bodamer OA, Stockler-Ipsiroglu S. Clinical characteristics and diagnostic clues in inborn errors of creatine metabolism. J Inherit Metab Dis2003;26:299-308.

2. Carducci C, Birarelli M, Leuzzi V, Battini R, Cioni G, Antonozzi I. 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. Clin Chem2002;48:1772-1778.

3. Schulze A, Ebinger F, Rating D, Mayatepek E. Improving treatment of guanidinoacetate methyltransferase deficiency: reduction of guanidinoacetic acid in body fluids by arginine restriction and ornithine supplementation. Mol Genet Metab2001;74:413-419.

4. Cognat S, Cheillan D, Piraud M, Roos B, Jakobs C, Vianey-Saban C. Determination of guanidinoacetate and creatine in urine and plasma by liquid chromatography-tandem mass spectrometry. Clin Chem2004;50:1459-1461.

5. Struys EA, Jansen EE, ten Brink HJ, Verhoeven NM, van der Knaap MS, Jakobs C. An accurate stable isotope dilution gas chromatographic-mass spectrometric approach to the diagnosis of guanidinoacetate methyltransferase deficiency. J Pharm Biomed An1998;18:659-665.

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