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Page 1
Identification and diagnostic value of phytanoyl- and pristanoyl-carnitine in plasma from patients with peroxisomal disorders.
Herzog K, van Lenthe H, Wanders RJA, Vaz FM, Waterham HR, Ferdinandusse S. Herzog K, et al. Mol Genet Metab. 2017 Jul;121(3):279-282. doi: 10.1016/j.ymgme.2017.05.003. Epub 2017 May 6. Mol Genet Metab. 2017. PMID: 28566232
Phytanic acid is a branched-chain fatty acid, the level of which is elevated in patients with a variety of peroxisomal disorders, including Refsum disease, and Rhizomelic chondrodysplasia punctata type 1 and 5. Elevated levels of both phytanic a …
Phytanic acid is a branched-chain fatty acid, the level of which is elevated in patients with a variety of peroxisomal disorders, including …
Prenatal ultrasonographic diagnosis of rhizomelic chondrodysplasia punctata by detection of rhizomelic shortening and bilateral cataracts.
Başbuğ M, Serin IS, Ozçelik B, Guneş T, Akçakuş M, Tayyar M. Başbuğ M, et al. Fetal Diagn Ther. 2005 May-Jun;20(3):171-4. doi: 10.1159/000083899. Fetal Diagn Ther. 2005. PMID: 15824492
This is the only report of prenatal ultrasonographic diagnosis of bilateral cataracts in a fetus with rhizomelic chondrodysplasia punctata (type 1). Also, this is the first report of severe rhizomelic limb shortening, and bilateral cataracts pri …
This is the only report of prenatal ultrasonographic diagnosis of bilateral cataracts in a fetus with rhizomelic chondrodysplasia …
Targeted carrier screening for four recessive disorders: high detection rate within a founder population.
Mathijssen IB, Henneman L, van Eeten-Nijman JM, Lakeman P, Ottenheim CP, Redeker EJ, Ottenhof W, Meijers-Heijboer H, van Maarle MC. Mathijssen IB, et al. Eur J Med Genet. 2015 Mar;58(3):123-8. doi: 10.1016/j.ejmg.2015.01.004. Epub 2015 Jan 30. Eur J Med Genet. 2015. PMID: 25641760
In a genetically isolated community in the Netherlands four severe recessive genetic disorders occur at relatively high frequency (pontocerebellar hypoplasia type 2 (PCH2), fetal akinesia deformation sequence (FADS), rhizomelic chondrodysplasia punctata ty …
In a genetically isolated community in the Netherlands four severe recessive genetic disorders occur at relatively high frequency (pontocere …
Identification of PEX7 as the second gene involved in Refsum disease.
van den Brink DM, Brites P, Haasjes J, Wierzbicki AS, Mitchell J, Lambert-Hamill M, de Belleroche J, Jansen GA, Waterham HR, Wanders RJ. van den Brink DM, et al. Am J Hum Genet. 2003 Feb;72(2):471-7. doi: 10.1086/346093. Epub 2003 Jan 9. Am J Hum Genet. 2003. PMID: 12522768 Free PMC article.
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 …
This region includes the PEX7 gene, which codes for the peroxin 7 receptor protein required for peroxisomal import of proteins containing a …
Twins with PEX7 related intellectual disability and cataract: Highlighting phenotypes of peroxisome biogenesis disorder 9B.
Masih S, Moirangthem A, Phadke SR. Masih S, et al. Am J Med Genet A. 2021 May;185(5):1504-1508. doi: 10.1002/ajmg.a.62110. Epub 2021 Feb 14. Am J Med Genet A. 2021. PMID: 33586206
Disease causing variations in PEX7 is known to cause severe rhizomelic chondrodysplasia punctata type 1 and PBD 9B, an allelic disorder resulting in a milder phenotype, often indistinguishable from that of classic Refsum disease. ...
Disease causing variations in PEX7 is known to cause severe rhizomelic chondrodysplasia punctata type 1 a …