Literature DB >> 9053555

Pre- and postnatal diagnosis of peroxisomal disorders using stable-isotope dilution gas chromatography--mass spectrometry.

N M Verhoeven1, W Kulik, C M van den Heuvel, C Jakobs.   

Abstract

Quantitative analysis of the following peroxisomal metabolites is reported: very long-chain fatty acids (VLCFA), pipecolic acid, bile acid intermediates, phytanic and pristanic acid, in plasma, urine, cerebrospinal fluid (CSF), blood spots collected at neonatal screening and amniotic fluid. An overview is given of the concentrations of these metabolites in body fluids from control subjects and all patients investigated so far in this laboratory. The method of choice is gas chromatography -- mass spectrometry (GC-MS) with electron capture detection, combined with the use of stable-isotope-labelled internal standards.

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Year:  1995        PMID： 9053555     DOI： 10.1007/bf00711428

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


  15 in total

1.  Bile acids in amniotic fluid: promising metabolites for the prenatal diagnosis of peroxisomal disorders.

Authors:  F Stellaard; W J Kleijer; R J Wanders; R B Schutgens; C Jakobs
Journal:  J Inherit Metab Dis       Date:  1991       Impact factor: 4.982

2.  Diagnosis of Zellweger syndrome by analysis of very long-chain fatty acids in stored blood spots collected at neonatal screening.

Authors:  C Jakobs; C M van den Heuvel; F Stellaard; C Largillière; F Skovby; E Christensen
Journal:  J Inherit Metab Dis       Date:  1993       Impact factor: 4.982

Review 3.  Clinical approach to inherited peroxisomal disorders.

Authors:  F Poggi-Travert; B Fournier; B T Poll-The; J M Saudubray
Journal:  J Inherit Metab Dis       Date:  1995       Impact factor: 4.982

4.  Determination of plasma bile acids by capillary gas-liquid chromatography-electron capture negative chemical ionization mass fragmentography.

Authors:  F Stellaard; S A Langelaar; R M Kok; C Jakobs
Journal:  J Lipid Res       Date:  1989-10       Impact factor: 5.922

5.  Analysis of pipecolic acid in biological fluids using capillary gas chromatography with electron-capture detection and [2H11]pipecolic acid as internal standard.

Authors:  T Zee; F Stellaard; C Jakobs
Journal:  J Chromatogr       Date:  1992-02-14

6.  Stable isotope dilution analysis of very long chain fatty acids in plasma, urine and amniotic fluid by electron capture negative ion mass fragmentography.

Authors:  F Stellaard; H J ten Brink; R M Kok; L van den Heuvel; C Jakobs
Journal:  Clin Chim Acta       Date:  1990-11-30       Impact factor: 3.786

Review 7.  Peroxisomal disorders: a review.

Authors:  B Fournier; J A Smeitink; L Dorland; R Berger; J M Saudubray; B T Poll-The
Journal:  J Inherit Metab Dis       Date:  1994       Impact factor: 4.982

8.  Pristanic acid and phytanic acid in plasma from patients with peroxisomal disorders: stable isotope dilution analysis with electron capture negative ion mass fragmentography.

Authors:  H J ten Brink; F Stellaard; C M van den Heuvel; R M Kok; D S Schor; R J Wanders; C Jakobs
Journal:  J Lipid Res       Date:  1992-01       Impact factor: 5.922

9.  Diagnosis of peroxisomal disorders by analysis of phytanic and pristanic acids in stored blood spots collected at neonatal screening.

Authors:  H J ten Brink; C M van den Heuvel; E Christensen; C Largillière; C Jakobs
Journal:  Clin Chem       Date:  1993-09       Impact factor: 8.327

10.  Bile acid abnormalities and the diagnosis of cerebro-hepato-renal syndrome (Zellweger syndrome).

Authors:  H Eyssen; E Eggermont; J van Eldere; J Jaeken; G Parmentier; G Janssen
Journal:  Acta Paediatr Scand       Date:  1985-07
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  6 in total

Review 1.  Antenatal manifestations of inborn errors of metabolism: biological diagnosis.

Authors:  Christine Vianey-Saban; Cécile Acquaviva; David Cheillan; Sophie Collardeau-Frachon; Laurent Guibaud; Cécile Pagan; Magali Pettazzoni; Monique Piraud; Antonin Lamazière; Roseline Froissart
Journal:  J Inherit Metab Dis       Date:  2016-07-08       Impact factor: 4.982

2.  X-linked adrenoleukodystrophy: improved prenatal diagnosis using both biochemical and immunological methods.

Authors:  R J Wanders; P W Mooyer; C Dekker; P Vreken
Journal:  J Inherit Metab Dis       Date:  1998-06       Impact factor: 4.982

3.  Lipoxygenase metabolites in amniotic fluid of patients with Zellweger syndrome.

Authors:  E Mayatepek; C Jakobs
Journal:  J Inherit Metab Dis       Date:  1998-06       Impact factor: 4.982

4.  Bifunctional protein deficiency: complementation within the same group suggesting differential enzyme defects and clues to the underlying basis.

Authors:  E G Van Grunsven; E van Berkel; H Lemonde; P T Clayton; R J Wanders
Journal:  J Inherit Metab Dis       Date:  1998-06       Impact factor: 4.982

5.  Identification of the newly discovered 58 kDa peroxisomal thiolase SCPx as the main thiolase involved in both pristanic acid and trihydroxycholestanoic acid oxidation: implications for peroxisomal beta-oxidation disorders.

Authors:  R J Wanders; S Denis; E van Berkel; F Wouters; K W Wirtz; U Seedorf
Journal:  J Inherit Metab Dis       Date:  1998-06       Impact factor: 4.982

Review 6.  Peroxisomal Dysfunction and Oxidative Stress in Neurodegenerative Disease: A Bidirectional Crosstalk.

Authors:  Marc Fransen; Iulia Revenco; Hongli Li; Cláudio F Costa; Celien Lismont; Paul P Van Veldhoven
Journal:  Adv Exp Med Biol       Date:  2020       Impact factor: 2.622
  6 in total

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