Literature DB >> 22719107

Progress Towards Simple and Direct Detection of Adenylosuccinate Lyase Deficiency in Human Urine.

Soojin Lim1, Mark Lowry, Robert M Strongin.   

Abstract

A rhodamine based boronic acid linearly responds to increasing 5-aminoimidazole-4-carboxamide riboside (AICAr) concentrations in human urine. This method is thus an advance in detecting adenylosuccinate lyase (ADSL) deficiency as AICAr is a model riboside for the ADSL substrates succinyladenosine (S-Ado) and succinylaminoimidazolecarboxamide riboside (SAICAr). ADSL deficiency is a rare but devastating disease of de novo purine synthesis in infants. Its diagnosis is also significant as it is one of the autism spectrum disorders.

Entities:  

Year:  2011        PMID： 22719107      PMCID： PMC3377351          DOI： 10.1071/CH11328

Source DB:  PubMed          Journal:  Aust J Chem        ISSN： 0004-9425            Impact factor:   1.321


  9 in total

1.  Fluorescence excitation-emission matrix regional integration to quantify spectra for dissolved organic matter.

Authors:  Wen Chen; Paul Westerhoff; Jerry A Leenheer; Karl Booksh
Journal:  Environ Sci Technol       Date:  2003-12-15       Impact factor: 9.028

2.  Second-order advantage achieved with four-way fluorescence excitation-emission-kinetic data processed by parallel factor analysis and trilinear least-squares. Determination of methotrexate and leucovorin in human urine.

Authors:  Alejandro C Olivieri; Juan A Arancibia; Arsenio Muñoz de la Peña; Isabel Durán-Merás; Anunciación Espinosa Mansilla
Journal:  Anal Chem       Date:  2004-10-01       Impact factor: 6.986

3.  Stereochemical and regiochemical trends in the selective detection of saccharides.

Authors:  Shan Jiang; Jorge O Escobedo; Kyu Kwang Kim; Onur Alptürk; George K Samoei; Sayo O Fakayode; Isiah M Warner; Oleksandr Rusin; Robert M Strongin
Journal:  J Am Chem Soc       Date:  2006-09-20       Impact factor: 15.419

Review 4.  Adenylosuccinate lyase deficiency.

Authors:  Erin K Spiegel; Roberta F Colman; David Patterson
Journal:  Mol Genet Metab       Date:  2006-07-12       Impact factor: 4.797

Review 5.  Disorders of purine and pyrimidine metabolism.

Authors:  William L Nyhan
Journal:  Mol Genet Metab       Date:  2005 Sep-Oct       Impact factor: 4.797

6.  Detecting specific saccharides via a single indicator.

Authors:  Soojin Lim; Jorge O Escobedo; Mark Lowry; Robert M Strongin
Journal:  Chem Commun (Camb)       Date:  2011-06-06       Impact factor: 6.222

Review 7.  Inborn errors of purine and pyrimidine metabolism.

Authors:  A Jurecka
Journal:  J Inherit Metab Dis       Date:  2009-03-15       Impact factor: 4.982

8.  AICA-ribosiduria: a novel, neurologically devastating inborn error of purine biosynthesis caused by mutation of ATIC.

Authors:  Sandrine Marie; Benedicte Heron; Pierre Bitoun; Therese Timmerman; Georges Van Den Berghe; Marie-Francoise Vincent
Journal:  Am J Hum Genet       Date:  2004-04-26       Impact factor: 11.025

9.  Combining standard addition method and second-order advantage for direct determination of salicylate in undiluted human plasma by spectrofluorimetry.

Authors:  Marcelo M Sena; Marcello G Trevisan; Ronei J Poppi
Journal:  Talanta       Date:  2005-09-19       Impact factor: 6.057
  9 in total
  1 in total

1.  Progress toward red and near-infrared (NIR) emitting saccharide sensors.

Authors:  Martha Sibrian-Vazquez; Jorge O Escobedo; Mark Lowry; Robert M Strongin
Journal:  Pure Appl Chem       Date:  2012-04-29       Impact factor: 2.453
  1 in total

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