Literature DB >> 1405474

Bone dysplasia associated with phytanic acid accumulation and deficient plasmalogen synthesis: a peroxisomal entity amenable to plasmapheresis.

J A Smeitink1, F A Beemer, M Espeel, R A Donckerwolcke, C Jakobs, R J Wanders, R B Schutgens, F Roels, M Duran, L Dorland.   

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Year:  1992        PMID： 1405474     DOI： 10.1007/bf02435981

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


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  8 in total

1.  Pristanic acid and phytanic acid in plasma from patients with a single peroxisomal enzyme deficiency.

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

2.  A new type of chondrodysplasia punctata associated with peroxisomal dysfunction.

Authors:  B T Poll-The; P Maroteaux; C Narcy; P Quetin; M Guesnu; R J Wanders; R B Schutgens; J M Saudubray
Journal:  J Inherit Metab Dis       Date:  1991       Impact factor: 4.982

Review 3.  Peroxisomal disorders in neurology.

Authors:  R J Wanders; H S Heymans; R B Schutgens; P G Barth; H van den Bosch; J M Tager
Journal:  J Neurol Sci       Date:  1988-12       Impact factor: 3.181

4.  Congenital rubella syndrome associated with calcific epiphyseal stippling and peroxisomal dysfunction.

Authors:  M G Pike; D A Applegarth; H G Dunn; S J Bamforth; A J Tingle; B J Wood; J E Dimmick; H Harris; J K Chantler; J G Hall
Journal:  J Pediatr       Date:  1990-01       Impact factor: 4.406

Review 5.  Liver pathology and immunocytochemistry in congenital peroxisomal diseases: a review.

Authors:  F Roels; M Espeel; D De Craemer
Journal:  J Inherit Metab Dis       Date:  1991       Impact factor: 4.982

6.  Heredopathia atactica polyneuritiformis (refsum's disease) treated by diet and plasma-exchange.

Authors:  F B Gibberd; J D Billimoria; N G Page; S Retsas
Journal:  Lancet       Date:  1979-03-17       Impact factor: 79.321

7.  Biochemical abnormalities in rhizomelic chondrodysplasia punctata.

Authors:  G Hoefler; S Hoefler; P A Watkins; W W Chen; A Moser; V Baldwin; B McGillivary; J Charrow; J M Friedman; L Rutledge
Journal:  J Pediatr       Date:  1988-05       Impact factor: 4.406

8.  Treatment of infantile phytanic acid storage disease: clinical, biochemical and ultrastructural findings in two children treated for 2 years.

Authors:  E F Robertson; A Poulos; P Sharp; J Manson; G Wise; A Jaunzems; R Carter
Journal:  Eur J Pediatr       Date:  1988-02       Impact factor: 3.183
  8 in total
  12 in total

Review 1.  Peroxisomal disorders: clinical, biochemical, and molecular aspects.

Authors:  R J Wanders
Journal:  Neurochem Res       Date:  1999-04       Impact factor: 3.996

2.  Molecular basis of rhizomelic chondrodysplasia punctata type I: high frequency of the Leu-292 stop mutation in 38 patients.

Authors:  P Brites; A Motley; E Hogenhout; E Hettema; F Wijburg; H S Heijmans; H F Tabak; B Distel; R J Wanders
Journal:  J Inherit Metab Dis       Date:  1998-06       Impact factor: 4.982

3.  Immunocytochemical localization of peroxisomal proteins in human liver and kidney.

Authors:  M Espeel; G Van Limbergen
Journal:  J Inherit Metab Dis       Date:  1995       Impact factor: 4.982

Review 4.  Diagnostic work-up of a peroxisomal patient.

Authors:  J G Leroy; M Espeel; J F Gadisseux; H Mandel; M Martinez; B T Poll-The; R J Wanders; F Roels
Journal:  J Inherit Metab Dis       Date:  1995       Impact factor: 4.982

Review 5.  Practical guide for morphometry of human peroxisomes on electron micrographs.

Authors:  I Kerckaert; D De Craemer; G Van Limbergen
Journal:  J Inherit Metab Dis       Date:  1995       Impact factor: 4.982

6.  Mutational spectrum in the PEX7 gene and functional analysis of mutant alleles in 78 patients with rhizomelic chondrodysplasia punctata type 1.

Authors:  Alison M Motley; Pedro Brites; Lisya Gerez; Eveline Hogenhout; Janet Haasjes; Rob Benne; Henk F Tabak; Ronald J A Wanders; Hans R Waterham
Journal:  Am J Hum Genet       Date:  2002-01-07       Impact factor: 11.025

7.  Disorders of peroxisome biogenesis due to mutations in PEX1: phenotypes and PEX1 protein levels.

Authors:  C Walter; J Gootjes; P A Mooijer; H Portsteffen; C Klein; H R Waterham; P G Barth; J T Epplen; W H Kunau; R J Wanders; G Dodt
Journal:  Am J Hum Genet       Date:  2001-06-01       Impact factor: 11.025

Review 8.  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

9.  Chondrodysplasia punctata with a mild clinical course.

Authors:  J M Nuoffer; J P Pfammatter; A Spahr; H Toplak; R J Wanders; R B Schutgens; U N Wiesmann
Journal:  J Inherit Metab Dis       Date:  1994       Impact factor: 4.982

Review 10.  Clinical and biochemical characteristics of peroxisomal disorders: an update.

Authors:  R J Wanders; P G Barth; R B Schutgens; J M Tager
Journal:  Eur J Pediatr       Date:  1994       Impact factor: 3.183
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