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    Results: 1 to 20 of 758

    1.

    Corneal ulceration due to vitamin A deficiency in Zellweger syndrome.

    Colburn JD, Skelo AS, Donahue SP.

    J AAPOS. 2009 Jun;13(3):289-91.PMID: 19541270 [PubMed - indexed for MEDLINE]Related articles

    2.

    Zellweger syndrome caused by PEX13 deficiency: report of two novel mutations.

    Al-Dirbashi OY, Shaheen R, Al-Sayed M, Al-Dosari M, Makhseed N, Abu Safieh L, Santa T, Meyer BF, Shimozawa N, Alkuraya FS.

    Am J Med Genet A. 2009 Jun;149A(6):1219-23.PMID: 19449432 [PubMed - indexed for MEDLINE]Related articles

    3.

    Cardiovascular flashlight. Transient right bundle branch block in a young patient.

    Freund N, Bremerich J, Buser PT, Zellweger MJ.

    Eur Heart J. 2009 May;30(9):1032. Epub 2009 Feb 19. No abstract available. PMID: 19228714 [PubMed - indexed for MEDLINE]Related articles

    4.

    Rational diagnostic strategy for Zellweger syndrome spectrum patients.

    Krause C, Rosewich H, Gärtner J.

    Eur J Hum Genet. 2009 Jun;17(6):741-8. Epub 2009 Jan 14.PMID: 19142205 [PubMed - indexed for MEDLINE]Related articles

    5.

    A PEX10 defect in a patient with no detectable defect in peroxisome assembly or metabolism in cultured fibroblasts.

    Steinberg SJ, Snowden A, Braverman NE, Chen L, Watkins PA, Clayton PT, Setchell KD, Heubi JE, Raymond GV, Moser AB, Moser HW.

    J Inherit Metab Dis. 2009 Feb;32(1):109-19. Epub 2008 Dec 25.PMID: 19127411 [PubMed - indexed for MEDLINE]Related articles

    6.

    Identification of novel mutations and sequence variation in the Zellweger syndrome spectrum of peroxisome biogenesis disorders.

    Yik WY, Steinberg SJ, Moser AB, Moser HW, Hacia JG.

    Hum Mutat. 2009 Mar;30(3):E467-80.PMID: 19105186 [PubMed - indexed for MEDLINE]Related articlesFree article

    7.

    Phosphatidyl ethanolamine with increased polyunsaturated fatty acids in compensation for plasmalogen defect in the Zellweger syndrome brain.

    Saitoh M, Itoh M, Takashima S, Mizuguchi M, Iwamori M.

    Neurosci Lett. 2009 Jan 16;449(3):164-7. Epub 2008 Nov 7.PMID: 19013214 [PubMed - indexed for MEDLINE]Related articles

    8.

    Role of an ancestral d-bifunctional protein containing two sterol-carrier protein-2 domains in lipid uptake and trafficking in Toxoplasma.

    Lige B, Jayabalasingham B, Zhang H, Pypaert M, Coppens I.

    Mol Biol Cell. 2009 Jan;20(2):658-72. Epub 2008 Nov 12.PMID: 19005217 [PubMed - indexed for MEDLINE]Related articlesFree article

    9.

    Effect of dietary Lorenzo's oil and docosahexaenoic acid treatment for Zellweger syndrome.

    Arai Y, Kitamura Y, Hayashi M, Oshida K, Shimizu T, Yamashiro Y.

    Congenit Anom (Kyoto). 2008 Dec;48(4):180-2.PMID: 18983586 [PubMed - indexed for MEDLINE]Related articles

    10.

    Urine acylcarnitine analysis by ESI-MS/MS: a new tool for the diagnosis of peroxisomal biogenesis disorders.

    Duranti G, Boenzi S, Rizzo C, Ravà L, Di Ciommo V, Carrozzo R, Meschini MC, Johnson DW, Dionisi-Vici C.

    Clin Chim Acta. 2008 Dec;398(1-2):86-9. Epub 2008 Aug 28.PMID: 18793625 [PubMed - indexed for MEDLINE]Related articles

    11.

    Mechanisms of disease: Inborn errors of bile acid synthesis.

    Sundaram SS, Bove KE, Lovell MA, Sokol RJ.

    Nat Clin Pract Gastroenterol Hepatol. 2008 Aug;5(8):456-68. Epub 2008 Jun 24. Review.PMID: 18577977 [PubMed - indexed for MEDLINE]Related articles

    12.

    Baicalein 5,6,7-trimethyl ether activates peroxisomal but not mitochondrial fatty acid beta-oxidation.

    Morita M, Kanai M, Mizuno S, Iwashima M, Hayashi T, Shimozawa N, Suzuki Y, Imanaka T.

    J Inherit Metab Dis. 2008 Jun;31(3):442-9. Epub 2008 May 9.PMID: 18470630 [PubMed - indexed for MEDLINE]Related articles

    13.

    Identification of a novel PEX14 mutation in Zellweger syndrome.

    Huybrechts SJ, Van Veldhoven PP, Hoffman I, Zeevaert R, de Vos R, Demaerel P, Brams M, Jaeken J, Fransen M, Cassiman D.

    J Med Genet. 2008 Jun;45(6):376-83. Epub 2008 Feb 19.PMID: 18285423 [PubMed - indexed for MEDLINE]Related articles

    14.

    Dynamic and functional assembly of the AAA peroxins, Pex1p and Pex6p, and their membrane receptor Pex26p involved in shuttling of the PTS1 receptor Pex5p in peroxisome biogenesis.

    Fujiki Y, Miyata N, Matsumoto N, Tamura S.

    Biochem Soc Trans. 2008 Feb;36(Pt 1):109-13. Review.PMID: 18208396 [PubMed - indexed for MEDLINE]Related articles

    15.

    Characterization of L-aminocarnitine, an inhibitor of fatty acid oxidation.

    Chegary M, Te Brinke H, Doolaard M, Ijlst L, Wijburg FA, Wanders RJ, Houten SM.

    Mol Genet Metab. 2008 Apr;93(4):403-10. Epub 2008 Feb 20.PMID: 18077198 [PubMed - indexed for MEDLINE]Related articles

    16.

    Screening for tuberculosis infection before the initiation of an anti-TNF-alpha therapy.

    Beglinger C, Dudler J, Mottet C, Nicod L, Seibold F, Villiger PM, Zellweger JP.

    Swiss Med Wkly. 2007 Nov 3;137(43-44):620-2. No abstract available. PMID: 17990157 [PubMed - indexed for MEDLINE]Related articlesFree article

    17.

    Zellweger syndrome resulting from maternal isodisomy of chromosome 1.

    Turner CL, Bunyan DJ, Thomas NS, Mackay DJ, Jones HP, Waterham HR, Wanders RJ, Temple IK.

    Am J Med Genet A. 2007 Sep 15;143A(18):2172-7.PMID: 17702006 [PubMed - indexed for MEDLINE]Related articles

    18.

    Drug delivery to peroxisomes: employing unique trafficking mechanisms to target protein therapeutics.

    Terlecky SR, Koepke JI.

    Adv Drug Deliv Rev. 2007 Aug 10;59(8):739-47. Epub 2007 Jun 28. Review.PMID: 17659806 [PubMed - indexed for MEDLINE]Related articles

    19.

    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.

    Zeharia A, Ebberink MS, Wanders RJ, Waterham HR, Gutman A, Nissenkorn A, Korman SH.

    J Hum Genet. 2007;52(7):599-606. Epub 2007 May 30.PMID: 17534573 [PubMed - indexed for MEDLINE]Related articles

    20.

    Adenosine-induced severe acute respiratory distress in chronic obstructive pulmonary disease: a myth?

    Maeder MT, Stöckli M, Zellweger MJ.

    Swiss Med Wkly. 2007 Apr 7;137(13-14):212. No abstract available. PMID: 17525874 [PubMed - indexed for MEDLINE]Related articlesFree article

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