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Journal Abstract Search

263 related items for PubMed ID: 22659211

  • 21. Rhizomelic chondrodysplasia punctata is caused by deficiency of human PEX7, a homologue of the yeast PTS2 receptor.
    Purdue PE, Zhang JW, Skoneczny M, Lazarow PB.
    Nat Genet; 1997 Apr; 15(4):381-4. PubMed ID: 9090383
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  • 27. A novel type of rhizomelic chondrodysplasia punctata, RCDP5, is caused by loss of the PEX5 long isoform.
    Barøy T, Koster J, Strømme P, Ebberink MS, Misceo D, Ferdinandusse S, Holmgren A, Hughes T, Merckoll E, Westvik J, Woldseth B, Walter J, Wood N, Tvedt B, Stadskleiv K, Wanders RJ, Waterham HR, Frengen E.
    Hum Mol Genet; 2015 Oct 15; 24(20):5845-54. PubMed ID: 26220973
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  • 29. Growth charts for individuals with rhizomelic chondrodysplasia punctata.
    Duker AL, Niiler T, Eldridge G, Brereton NH, Braverman NE, Bober MB.
    Am J Med Genet A; 2017 Jan 15; 173(1):108-113. PubMed ID: 27616591
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  • 30. Variant rhizomelic chondrodysplasia punctata (RCDP) with normal plasma phytanic acid: clinico-biochemical delineation of a subtype and complementation studies.
    Barth PG, Wanders RJ, Schutgens RB, Staalman CR.
    Am J Med Genet; 1996 Mar 15; 62(2):164-8. PubMed ID: 8882397
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  • 31. Functions and biosynthesis of plasmalogens in health and disease.
    Brites P, Waterham HR, Wanders RJ.
    Biochim Biophys Acta; 2004 Mar 22; 1636(2-3):219-31. PubMed ID: 15164770
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  • 33. Rhizomelic chondrodysplasia punctata: report of a case with review of the literature and correlation with other peroxisomal disorders.
    Agamanolis DP, Novak RW.
    Pediatr Pathol Lab Med; 1995 Mar 22; 15(3):503-13. PubMed ID: 8597837
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  • 34. A new test method for biochemical analysis of plasmalogens in dried blood spots and erythrocytes from patients with peroxisomal disorders.
    Wegwerth PJ, White AL, Stoway SD, Loken PR, Oglesbee D, Matern D, Tortorelli S, Raymond KM, Braverman NE, Gavrilov DK.
    J Inherit Metab Dis; 2023 Nov 22; 46(6):1159-1169. PubMed ID: 37747296
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  • 38. Mutational spectrum in the PEX7 gene and functional analysis of mutant alleles in 78 patients with rhizomelic chondrodysplasia punctata type 1.
    Motley AM, Brites P, Gerez L, Hogenhout E, Haasjes J, Benne R, Tabak HF, Wanders RJ, Waterham HR.
    Am J Hum Genet; 2002 Mar 22; 70(3):612-24. PubMed ID: 11781871
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  • 39. Plasmalogen homeostasis - regulation of plasmalogen biosynthesis and its physiological consequence in mammals.
    Honsho M, Fujiki Y.
    FEBS Lett; 2017 Sep 22; 591(18):2720-2729. PubMed ID: 28686302
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  • 40. Plasmalogen biosynthesis in peroxisomal disorders: fatty alcohol versus alkylglycerol precursors.
    Schrakamp G, Schalkwijk CG, Schutgens RB, Wanders RJ, Tager JM, van den Bosch H.
    J Lipid Res; 1988 Mar 22; 29(3):325-34. PubMed ID: 3379344
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