Literature DB >> 16435215

Increased HVA detected on organic acid analysis in a patient with Costello syndrome.

A Bowron1, J G Scott, C Brewer, P Weir.   

Abstract

Urine organic acid analysis is routinely performed to investigate inborn errors of metabolism; however, interpretation can be difficult owing to the detection of compounds derived from other disease states or from nonpathological causes. We describe the finding of elevated homovanillc acid (HVA) on urine organic acid analysis which was not associated with medication or a neuroendocrine tumour but with Costello syndrome.

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Year:  2005        PMID： 16435215     DOI： 10.1007/s10545-005-0124-8

Source DB:  PubMed          Journal:  J Inherit Metab Dis        ISSN： 0141-8955            Impact factor:   4.750


  3 in total

1.  Metabolic, nutritional, iatrogenic, and artifactual sources of urinary organic acids: a comprehensive table.

Authors:  Alain Kumps; Pierre Duez; Yves Mardens
Journal:  Clin Chem       Date:  2002-05       Impact factor: 8.327

Review 2.  Costello syndrome: an overview.

Authors:  Raoul C M Hennekam
Journal:  Am J Med Genet C Semin Med Genet       Date:  2003-02-15       Impact factor: 3.908

3.  Elevated catecholamine metabolites in patients with Costello syndrome.

Authors:  Karen W Gripp; Hiroshi Kawame; David H Viskochil; Linda Nicholson
Journal:  Am J Med Genet A       Date:  2004-07-01       Impact factor: 2.802
  3 in total
  3 in total

1.  Costello syndrome: Clinical phenotype, genotype, and management guidelines.

Authors:  Karen W Gripp; Lindsey A Morse; Marni Axelrad; Kathryn C Chatfield; Aaron Chidekel; William Dobyns; Daniel Doyle; Bronwyn Kerr; Angela E Lin; David D Schwartz; Barbara J Sibbles; Dawn Siegel; Suma P Shankar; David A Stevenson; Mihir M Thacker; K Nicole Weaver; Sue M White; Katherine A Rauen
Journal:  Am J Med Genet A       Date:  2019-06-20       Impact factor: 2.802

2.  A rasopathy phenotype with severe congenital hypertrophic obstructive cardiomyopathy associated with a PTPN11 mutation and a novel variant in SOS1.

Authors:  Jill A Fahrner; Aisha Frazier; Suha Bachir; Michael F Walsh; Carolyn D Applegate; Reid Thompson; Marc K Halushka; Anne M Murphy; Meral Gunay-Aygun
Journal:  Am J Med Genet A       Date:  2012-05-14       Impact factor: 2.802

Review 3.  Current medical research with the application of coupled techniques with mass spectrometry.

Authors:  Joanna Kałużna-Czaplińska
Journal:  Med Sci Monit       Date:  2011-05
  3 in total

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