|1.||Braverman, Nancy: 2 articles (12/2011 - 04/2010)|
|2.||Wanders, Ronald J A: 2 articles (06/2004 - 02/2003)|
|3.||Meijers-Heijboer, Hanne: 1 article (03/2015)|
|4.||van Eeten-Nijman, Janneke M C: 1 article (03/2015)|
|5.||Lakeman, Phillis: 1 article (03/2015)|
|6.||Mathijssen, Inge B: 1 article (03/2015)|
|7.||Henneman, Lidewij: 1 article (03/2015)|
|8.||van Maarle, Merel C: 1 article (03/2015)|
|9.||Redeker, Egbert J W: 1 article (03/2015)|
|10.||Ottenheim, Cecile P E: 1 article (03/2015)|
|1.||Adrenoleukodystrophy (Adrenoleukodystrophy, X-Linked)
06/01/2004 - "Additional studies in fibroblasts from patients with X-linked adrenoleukodystrophy, straight-chain acyl-CoA oxidase (SCOX) deficiency, d-bifunctional protein (DBP) deficiency, and rhizomelic chondrodysplasia punctata type 1, together with direct enzyme measurements with human recombinant l-bifunctional protein (LBP) and DBP expressed in a fox2 deletion mutant of Saccharomyces cerevisiae, show that the main enzymes involved in beta-oxidation of C16DCA are SCOX, both LBP and DBP, and sterol carrier protein X, possibly together with the classic 3-ketoacyl-CoA thiolase. "
12/01/2001 - "By making use of fibroblasts from patients with defined mitochondrial and peroxisomal fatty acid oxidation defects, we show in this article that peroxisomes, and not mitochondria, are involved in DHA formation by catalyzing the beta-oxidation of C24:6n-3 to C22:6n-3. Additional studies of fibroblasts from patients with X-linked adrenoleukodystrophy, straight-chain acyl-CoA oxidase (SCOX) deficiency, d-bifunctional protein (DBP) deficiency, and rhizomelic chondrodysplasia punctata type 1, and of fibroblasts from l-bifunctional protein and sterol carrier protein X (SCPx) knockout mice, show that the main enzymes involved in beta-oxidation of C24:6n-3 to C22:6n-3 are SCOX, DBP, and both 3-ketoacyl-CoA thiolase and SCPx. "
04/01/2010 - "Rhizomelic chondrodysplasia punctata type 1 is a peroxisome biogenesis disorder with the clinical features of rhizomelia, abnormal epiphyseal calcifications, congenital cataracts, and profound growth and developmental delays. "
05/01/2005 - "This is the only report of prenatal ultrasonographic diagnosis of bilateral cataracts in a fetus with rhizomelic chondrodysplasia punctata (type 1). "
|3.||Peroxisomal Disorders (Peroxisomal Disorder)
02/01/2003 - "This region includes the PEX7 gene, which codes for the peroxin 7 receptor protein required for peroxisomal import of proteins containing a peroxisomal targeting signal type 2. Mutations in PEX7 normally cause rhizomelic chondrodysplasia punctata type 1, a severe peroxisomal disorder. "
|4.||Respiratory Insufficiency (Respiratory Failure)
|5.||Refsum Disease (Refsum's Disease)
|3.||sterol carrier proteins
|4.||Proteins (Proteins, Gene)
|5.||Pontocerebellar Hypoplasia Type 2
|6.||type 1 Pena Shokeir syndrome