Literature DB >> 2512431

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

R J Wanders1, E A Wiemer, S Brul, R B Schutgens, H van den Bosch, J M Tager.   

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Year:  1989        PMID： 2512431     DOI： 10.1007/bf03335405

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


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  6 in total

1.  Peroxisomal and mitochondrial defects in the cerebro-hepato-renal syndrome.

Authors:  S Goldfischer; C L Moore; A B Johnson; A J Spiro; M P Valsamis; H K Wisniewski; R H Ritch; W T Norton; I Rapin; L M Gartner
Journal:  Science       Date:  1973-10-05       Impact factor: 47.728

Review 2.  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

3.  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

4.  Prenatal diagnosis of Zellweger syndrome by measurement of very long chain fatty acid (C26:0) beta-oxidation in cultured chorionic villous fibroblasts: implications for early diagnosis of other peroxisomal disorders.

Authors:  R J Wanders; M J van Wijland; C W van Roermund; R B Schutgens; H van den Bosch; J M Tager; A Nijenhuis; A Tromp
Journal:  Clin Chim Acta       Date:  1987-06-15       Impact factor: 3.786

5.  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

6.  Presence of peroxisomal membrane proteins in liver and fibroblasts from patients with the Zellweger syndrome and related disorders: evidence for the existence of peroxisomal ghosts.

Authors:  E A Wiemer; S Brul; W W Just; R Van Driel; E Brouwer-Kelder; M Van Den Berg; P J Weijers; R B Schutgens; H Van Den Bosch; A Schram
Journal:  Eur J Cell Biol       Date:  1989-12       Impact factor: 4.492
  6 in total
  11 in total

1.  Disorders of peroxisome biogenesis: complementation analysis shows genetic heterogeneity with strong overrepresentation of one group (PEX1 deficiency).

Authors:  R J Wanders; P A Mooijer; C Dekker; Y Suzuki; N Shimozawa
Journal:  J Inherit Metab Dis       Date:  1999-05       Impact factor: 4.982

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

Authors:  R J Soorani-Lunsing; F J van Spronsen; I Stolte-Dijkstra; R J Wanders; S Ferdinandusse; H R Waterham; B T Poll-The; J P Rake
Journal:  J Inherit Metab Dis       Date:  2005       Impact factor: 4.982

3.  A novel PEX12 mutation identified as the cause of a peroxisomal biogenesis disorder with mild clinical phenotype, mild biochemical abnormalities in fibroblasts and a mosaic catalase immunofluorescence pattern, even at 40 degrees C.

Authors:  Avraham Zeharia; Merel S Ebberink; Ronald J A Wanders; Hans R Waterham; Alisa Gutman; Andreea Nissenkorn; Stanley H Korman
Journal:  J Hum Genet       Date:  2007-05-30       Impact factor: 3.172

4.  Expanding the spectrum of PEX10-related peroxisomal biogenesis disorders: slowly progressive recessive ataxia.

Authors:  Mathilde Renaud; Claire Guissart; Martial Mallaret; Sacha Ferdinandusse; David Cheillan; Nathalie Drouot; Jean Muller; Mireille Claustres; Christine Tranchant; Mathieu Anheim; Michel Koenig
Journal:  J Neurol       Date:  2016-05-26       Impact factor: 4.849

5.  A PEX6-defective peroxisomal biogenesis disorder with severe phenotype in an infant, versus mild phenotype resembling Usher syndrome in the affected parents.

Authors:  Annick Raas-Rothschild; Ronald J A Wanders; Petra A W Mooijer; Jeannette Gootjes; Hans R Waterham; Alisa Gutman; Yasuyuki Suzuki; Nobuyuki Shimozawa; Naomi Kondo; Gideon Eshel; Marc Espeel; Frank Roels; Stanley H Korman
Journal:  Am J Hum Genet       Date:  2002-02-28       Impact factor: 11.025

6.  Infantile Refsum Disease: Influence of Dietary Treatment on Plasma Phytanic Acid Levels.

Authors:  Maria João Nabais Sá; Júlio C Rocha; Manuela F Almeida; Carla Carmona; Esmeralda Martins; Vasco Miranda; Miguel Coutinho; Rita Ferreira; Sara Pacheco; Francisco Laranjeira; Isaura Ribeiro; Ana Maria Fortuna; Lúcia Lacerda
Journal:  JIMD Rep       Date:  2015-08-25

7.  Histochemistry of peroxisomal enzyme activities: a tool in the diagnosis of Zellweger syndrome.

Authors:  W M Frederiks; K S Bosch; M Ankum; R J Wanders
Journal:  J Inherit Metab Dis       Date:  1993       Impact factor: 4.982

8.  Arginine improves peroxisome functioning in cells from patients with a mild peroxisome biogenesis disorder.

Authors:  Kevin Berendse; Merel S Ebberink; Lodewijk Ijlst; Bwee Tien Poll-The; Ronald J A Wanders; Hans R Waterham
Journal:  Orphanet J Rare Dis       Date:  2013-09-09       Impact factor: 4.123

Review 9.  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

10.  Zellweger spectrum disorders: clinical manifestations in patients surviving into adulthood.

Authors:  Kevin Berendse; Marc Engelen; Sacha Ferdinandusse; Charles B L M Majoie; Hans R Waterham; Frédéric M Vaz; Johannes H T M Koelman; Peter G Barth; Ronald J A Wanders; Bwee Tien Poll-The
Journal:  J Inherit Metab Dis       Date:  2015-08-19       Impact factor: 4.982
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