Warning: Undefined array key "mm" in /www/wwwroot/www.ai-bt.com/si.php on line 10 Deprecated: trim(): Passing null to parameter #1 ($string) of type string is deprecated in /www/wwwroot/www.ai-bt.com/si.php on line 10 Rhizomelic chondrodysplasia punctata: another peroxisomal disorder.

Authors: L Van Maldergem; M Espeel; F Roels; C Petit; G Dacremont; R J Wanders; A Verloes; Y Gillerot
Journal: Hum Genet Date: 1991-10 Impact factor: 4.132

5. Peroxisomes in infantile phytanic acid storage disease: a cytochemical study of skin fibroblasts.

Authors: M E Beard; A B Moser; V Sapirstein; E Holtzman
Journal: J Inherit Metab Dis Date: 1986 Impact factor: 4.982

6. 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 7. Dysmorphic syndromes with demonstrable biochemical abnormalities.

Authors: P T Clayton; E Thompson
Journal: J Med Genet Date: 1988-07 Impact factor: 6.318

8. Rhizomelic chondrodysplasia punctata. Deficiency of 3-oxoacyl-coenzyme A thiolase in peroxisomes and impaired processing of the enzyme.

Authors: J C Heikoop; C W van Roermund; W W Just; R Ofman; R B Schutgens; H S Heymans; R J Wanders; J M Tager
Journal: J Clin Invest Date: 1990-07 Impact factor: 14.808

9. Mutations in the gene encoding peroxisomal sterol carrier protein X (SCPx) cause leukencephalopathy with dystonia and motor neuropathy.

Authors: S Ferdinandusse; P Kostopoulos; S Denis; H Rusch; H Overmars; U Dillmann; W Reith; D Haas; R J A Wanders; M Duran; M Marziniak
Journal: Am J Hum Genet Date: 2006-03-29 Impact factor: 11.025

10. Blood polyunsaturated fatty acids in patients with peroxisomal disorders. A multicenter study.

Authors: M Martinez; I Mougan; M Roig; A Ballabriga
Journal: Lipids Date: 1994-04 Impact factor: 1.880