Literature DB >> 16435222

Normal very-long-chain fatty acids in peroxisomal D-bifunctional protein deficiency: a diagnostic pitfall.

R J Soorani-Lunsing1, F J van Spronsen, I Stolte-Dijkstra, R J Wanders, S Ferdinandusse, H R Waterham, B T Poll-The, J P Rake.   

Abstract

We present a relatively mild case of peroxisomal D-bifunctional protein deficiency with inconsistent screening results in plasma for peroxisomal disorders.

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Year:  2005        PMID： 16435222     DOI： 10.1007/s10545-005-0149-z

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


  8 in total

1.  Reinvestigation of trihydroxycholestanoic acidemia reveals a peroxisome biogenesis disorder.

Authors:  J Gootjes; F Skovby; E Christensen; R J A Wanders; S Ferdinandusse
Journal:  Neurology       Date:  2004-06-08       Impact factor: 9.910

2.  D-3-hydroxyacyl-CoA dehydratase/D-3-hydroxyacyl-CoA dehydrogenase bifunctional protein deficiency: a newly identified peroxisomal disorder.

Authors:  Y Suzuki; L L Jiang; M Souri; S Miyazawa; S Fukuda; Z Zhang; M Une; N Shimozawa; N Kondo; T Orii; T Hashimoto
Journal:  Am J Hum Genet       Date:  1997-11       Impact factor: 11.025

3.  Plasma very long chain fatty acids in 3,000 peroxisome disease patients and 29,000 controls.

Authors:  A B Moser; N Kreiter; L Bezman; S Lu; G V Raymond; S Naidu; H W Moser
Journal:  Ann Neurol       Date:  1999-01       Impact factor: 10.422

4.  Peroxisome mosaics in the liver of patients and the regulation of peroxisome expression in rat hepatocyte cultures.

Authors:  F Roels; T Tytgat; S Beken; M Giros; M Espeel; B De Prest; I Kerckaert; T Pàmpols; V Rogiers
Journal:  Ann N Y Acad Sci       Date:  1996-12-27       Impact factor: 5.691

5.  Prenatal diagnosis of Zellweger syndrome by direct visualization of peroxisomes in chorionic villus fibroblasts by immunofluorescence microscopy.

Authors:  R J Wanders; E A Wiemer; S Brul; R B Schutgens; H van den Bosch; J M Tager
Journal:  J Inherit Metab Dis       Date:  1989       Impact factor: 4.982

6.  Measurement of peroxisomal fatty acid beta-oxidation in cultured human skin fibroblasts.

Authors:  R J Wanders; S Denis; J P Ruiter; R B Schutgens; C W van Roermund; B S Jacobs
Journal:  J Inherit Metab Dis       Date:  1995       Impact factor: 4.982

Review 7.  Molecular basis of D-bifunctional protein deficiency.

Authors:  G Möller; E G van Grunsven; R J Wanders; J Adamski
Journal:  Mol Cell Endocrinol       Date:  2001-01-22       Impact factor: 4.102

8.  A new type of peroxisomal disorder with variable expression in liver and fibroblasts.

Authors:  H Mandel; M Espeel; F Roels; N Sofer; A Luder; T C Iancu; A Aizin; M Berant; R J Wanders; R B Schutgens
Journal:  J Pediatr       Date:  1994-10       Impact factor: 4.406
  8 in total
  4 in total

1.  Lymphoblastoid cell lines for diagnosis of peroxisome biogenesis disorders.

Authors:  Sabine Grønborg; Ralph Krätzner; Hendrik Rosewich; Jutta Gärtner
Journal:  JIMD Rep       Date:  2011-06-22

2.  Mutations in the DBP-deficiency protein HSD17B4 cause ovarian dysgenesis, hearing loss, and ataxia of Perrault Syndrome.

Authors:  Sarah B Pierce; Tom Walsh; Karen M Chisholm; Ming K Lee; Anne M Thornton; Agata Fiumara; John M Opitz; Ephrat Levy-Lahad; Rachel E Klevit; Mary-Claire King
Journal:  Am J Hum Genet       Date:  2010-07-30       Impact factor: 11.025

3.  D-bifunctional Protein Deficiency: A Case Report of a Turkish Child.

Authors:  Faruk Incecik; Neslihan O Mungan
Journal:  Ann Indian Acad Neurol       Date:  2019 Jan-Mar       Impact factor: 1.383

Review 4.  The important role of biochemical and functional studies in the diagnostics of peroxisomal disorders.

Authors:  Sacha Ferdinandusse; Merel S Ebberink; Frédéric M Vaz; Hans R Waterham; Ronald J A Wanders
Journal:  J Inherit Metab Dis       Date:  2016-03-04       Impact factor: 4.982
  4 in total

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