Literature DB >> 1770792

A new type of chondrodysplasia punctata associated with peroxisomal dysfunction.

B T Poll-The1, P Maroteaux, C Narcy, P Quetin, M Guesnu, R J Wanders, R B Schutgens, J M Saudubray.   

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Year:  1991        PMID： 1770792     DOI： 10.1007/bf01811703

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


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  8 in total

1.  Phytanic acid oxidase activity in cultured skin fibroblasts. Diagnostic usefulness and limitations.

Authors:  O H Skjeldal; O Stokke; J Norseth; S O Lie
Journal:  Scand J Clin Lab Invest       Date:  1986-05       Impact factor: 1.713

2.  Peroxisomal enzyme deficiency in X-linked dominant Conradi-Hünermann syndrome.

Authors:  P T Clayton; D C Kalter; D J Atherton; G T Besley; D M Broadhead
Journal:  J Inherit Metab Dis       Date:  1989       Impact factor: 4.982

3.  Peroxisomal enzyme deficiency in the Conradi-Hunerman form of chondrodysplasia punctata.

Authors:  R D Holmes; G N Wilson; A K Hajra
Journal:  N Engl J Med       Date:  1987-06-18       Impact factor: 91.245

4.  Rhizomelic chondrodysplasia punctata: another peroxisomal disorder.

Authors:  H S Heymans; J W Oorthuys; G Nelck; R J Wanders; R B Schutgens
Journal:  N Engl J Med       Date:  1985-07-18       Impact factor: 91.245

5.  Peroxisomal beta-oxidation enzyme proteins in the Zellweger syndrome.

Authors:  J M Tager; W A Van der Beek; R J Wanders; T Hashimoto; H S Heymans; H Van den Bosch; R B Schutgens; A W Schram
Journal:  Biochem Biophys Res Commun       Date:  1985-02-15       Impact factor: 3.575

6.  Deficiency of acyl-CoA: dihydroxyacetone phosphate acyltransferase in patients with Zellweger (cerebro-hepato-renal) syndrome.

Authors:  R B Schutgens; G J Romeyn; R J Wanders; H van den Bosch; G Schrakamp; H S Heymans
Journal:  Biochem Biophys Res Commun       Date:  1984-04-16       Impact factor: 3.575

7.  Activity of peroxisomal enzymes and intracellular distribution of catalase in Zellweger syndrome.

Authors:  R J Wanders; M Kos; B Roest; A J Meijer; G Schrakamp; H S Heymans; W H Tegelaers; H van den Bosch; R B Schutgens; J M Tager
Journal:  Biochem Biophys Res Commun       Date:  1984-09-28       Impact factor: 3.575

8.  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 in total
  10 in total

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

Authors:  J A Smeitink; F A Beemer; M Espeel; R A Donckerwolcke; C Jakobs; R J Wanders; R B Schutgens; F Roels; M Duran; L Dorland
Journal:  J Inherit Metab Dis       Date:  1992       Impact factor: 4.982

2.  Rhizomelic chondrodysplasia punctata--a new clinical variant.

Authors:  R G Gray; A Green; S Chapman; C McKeown; R B Schutgens; R J Wanders
Journal:  J Inherit Metab Dis       Date:  1992       Impact factor: 4.982

Review 3.  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

4.  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

Review 5.  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

6.  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

7.  Isolated dihydroxyacetonephosphate acyltransferase deficiency presenting with developmental delay.

Authors:  P T Clayton; S Eckhardt; J Wilson; C M Hall; Y Yousuf; R J Wanders; R B Schutgens
Journal:  J Inherit Metab Dis       Date:  1994       Impact factor: 4.982

8.  Identification of PEX7 as the second gene involved in Refsum disease.

Authors:  Daan M van den Brink; Pedro Brites; Janet Haasjes; Anthony S Wierzbicki; John Mitchell; Michelle Lambert-Hamill; Jacqueline de Belleroche; Gerbert A Jansen; Hans R Waterham; Ronald J A Wanders
Journal:  Am J Hum Genet       Date:  2003-01-09       Impact factor: 11.025

9.  Homeostasis of phospholipids - The level of phosphatidylethanolamine tightly adapts to changes in ethanolamine plasmalogens.

Authors:  Fabian Dorninger; Alexander Brodde; Nancy E Braverman; Ann B Moser; Wilhelm W Just; Sonja Forss-Petter; Britta Brügger; Johannes Berger
Journal:  Biochim Biophys Acta       Date:  2014-11-15

Review 10.  Peroxisomes in brain development and function.

Authors:  Johannes Berger; Fabian Dorninger; Sonja Forss-Petter; Markus Kunze
Journal:  Biochim Biophys Acta       Date:  2015-12-11
  10 in total

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