Literature DB >> 8487504

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

C Jakobs1, C M van den Heuvel, F Stellaard, C Largillière, F Skovby, E Christensen.   

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Year:  1993        PMID： 8487504     DOI： 10.1007/bf00711316

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


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  5 in total

Review 1.  The inborn errors of peroxisomal beta-oxidation: a review.

Authors:  R J Wanders; C W van Roermund; R B Schutgens; P G Barth; H S Heymans; H van den Bosch; J M Tager
Journal:  J Inherit Metab Dis       Date:  1990       Impact factor: 4.982

2.  Diagnosis of Zellweger syndrome by analysis of bile acids and plasmalogens in stored dried blood collected at neonatal screening.

Authors:  J Gustafsson; L Sisfontes; I Björkhem
Journal:  J Pediatr       Date:  1987-08       Impact factor: 4.406

3.  Diagnosis of adrenoleukodystrophy using dried blood spots.

Authors:  Y Ishikawa; R Minami; T Nakao
Journal:  Tohoku J Exp Med       Date:  1985-05       Impact factor: 1.848

4.  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

5.  A simple method to diagnose adrenoleukodystrophy using a dried blood spot on filter paper.

Authors:  H Nishio; S Kodama; S Yokoyama; T Matsuo; T Mio; K Sumino
Journal:  Clin Chim Acta       Date:  1986-08-30       Impact factor: 3.786
  5 in total
  6 in total

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

Authors:  N M Verhoeven; W Kulik; C M van den Heuvel; C Jakobs
Journal:  J Inherit Metab Dis       Date:  1995       Impact factor: 4.982

Review 2.  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

Review 3.  Newborn screening for lysosomal storage disorders and other neuronopathic conditions.

Authors:  Dietrich Matern; Devin Oglesbee; Silvia Tortorelli
Journal:  Dev Disabil Res Rev       Date:  2013

4.  A rapid screening procedure for the diagnosis of peroxisomal disorders: quantification of very long-chain fatty acids, as dimethylaminoethyl esters, in plasma and blood spots, by electrospray tandem mass spectrometry.

Authors:  D W Johnson
Journal:  J Inherit Metab Dis       Date:  2000-07       Impact factor: 4.982

5.  Storage policies and use of the Danish Newborn Screening Biobank.

Authors:  B Nørgaard-Pedersen; D M Hougaard
Journal:  J Inherit Metab Dis       Date:  2007-07-12       Impact factor: 4.982

6.  Laboratory diagnosis of disorders of peroxisomal biogenesis and function: a technical standard of the American College of Medical Genetics and Genomics (ACMG).

Authors:  Irene De Biase; Silvia Tortorelli; Lisa Kratz; Steven J Steinberg; Kristina Cusmano-Ozog; Nancy Braverman
Journal:  Genet Med       Date:  2019-12-11       Impact factor: 8.822
  6 in total

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