Literature DB >> 10407788

Tandem mass spectrometry--the potential.

K Bartlett1, M Pourfarzam.   

Abstract

We summarize the current status of the use of tandem mass spectrometry for the detection of inherited metabolic disorders and the investigation of the pathophysiology of these conditions. We also indicate some of the more recent developments of this technology that have potential diagnostic applications.

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Year:  1999        PMID: 10407788     DOI: 10.1023/a:1005520726774

Source DB:  PubMed          Journal:  J Inherit Metab Dis        ISSN: 0141-8955            Impact factor:   4.982


  12 in total

1.  Prenatal diagnosis of mitochondrial fatty acid oxidation defects.

Authors:  M A Nada; C Vianey-Saban; C R Roe; J H Ding; M Mathieu; R S Wappner; M G Bialer; J A McGlynn; G Mandon
Journal:  Prenat Diagn       Date:  1996-02       Impact factor: 3.050

2.  Intact protein electrospray ionization tandem mass spectrometry can be the sole technique used for confirming the structure of a variant hemoglobin.

Authors:  H E Witkowska; B N Green; M Morris; C H Shackleton
Journal:  Rapid Commun Mass Spectrom       Date:  1995       Impact factor: 2.419

3.  Phytanic acid and pristanic acid are oxidized by sequential peroxisomal and mitochondrial reactions in cultured fibroblasts.

Authors:  N M Verhoeven; D S Roe; R M Kok; R J Wanders; C Jakobs; C R Roe
Journal:  J Lipid Res       Date:  1998-01       Impact factor: 5.922

4.  Rapid diagnosis of phenylketonuria by quantitative analysis for phenylalanine and tyrosine in neonatal blood spots by tandem mass spectrometry.

Authors:  D H Chace; D S Millington; N Terada; S G Kahler; C R Roe; L F Hofman
Journal:  Clin Chem       Date:  1993-01       Impact factor: 8.327

5.  Rapid diagnosis of homocystinuria and other hypermethioninemias from newborns' blood spots by tandem mass spectrometry.

Authors:  D H Chace; S L Hillman; D S Millington; S G Kahler; B W Adam; H L Levy
Journal:  Clin Chem       Date:  1996-03       Impact factor: 8.327

6.  Quantitative analysis of biological membrane lipids at the low picomole level by nano-electrospray ionization tandem mass spectrometry.

Authors:  B Brügger; G Erben; R Sandhoff; F T Wieland; W D Lehmann
Journal:  Proc Natl Acad Sci U S A       Date:  1997-03-18       Impact factor: 11.205

7.  Prenatal diagnosis of organic acidemias based on amniotic fluid levels of acylcarnitines.

Authors:  Y Shigematsu; I Hata; A Nakai; Y Kikawa; M Sudo; Y Tanaka; S Yamaguchi; C Jakobs
Journal:  Pediatr Res       Date:  1996-04       Impact factor: 3.756

8.  Characterization of the testis and epididymis in mouse models of human Tay Sachs and Sandhoff diseases and partial determination of accumulated gangliosides.

Authors:  J Trasler; F Saberi; I H Somani; H I Adamali; J Q Huang; S R Fortunato; G Ritter; M Gu; R Aebersold; R A Gravel; L Hermo
Journal:  Endocrinology       Date:  1998-07       Impact factor: 4.736

9.  Rapid diagnosis of maple syrup urine disease in blood spots from newborns by tandem mass spectrometry.

Authors:  D H Chace; S L Hillman; D S Millington; S G Kahler; C R Roe; E W Naylor
Journal:  Clin Chem       Date:  1995-01       Impact factor: 8.327

10.  Evidence for intermediate channeling in mitochondrial beta-oxidation.

Authors:  M A Nada; W J Rhead; H Sprecher; H Schulz; C R Roe
Journal:  J Biol Chem       Date:  1995-01-13       Impact factor: 5.157

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  1 in total

Review 1.  Population newborn screening for inherited metabolic disease: current UK perspectives.

Authors:  A Green; R J Pollitt
Journal:  J Inherit Metab Dis       Date:  1999-06       Impact factor: 4.982

  1 in total

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