193 related articles for article (PubMed ID: 30078639)
21. Identification of a novel mutation in PEX10 in a patient with attenuated Zellweger spectrum disorder: a case report.
Blomqvist M; Ahlberg K; Lindgren J; Ferdinandusse S; Asin-Cayuela J
J Med Case Rep; 2017 Aug; 11(1):218. PubMed ID: 28784167
[TBL] [Abstract][Full Text] [Related]
22. Newly identified milder phenotype of peroxisome biogenesis disorder caused by mutated PEX3 gene.
Matsui S; Funahashi M; Honda A; Shimozawa N
Brain Dev; 2013 Oct; 35(9):842-8. PubMed ID: 23245813
[TBL] [Abstract][Full Text] [Related]
23. 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 RJA; Waterham HR; Gutman A; Nissenkorn A; Korman SH
J Hum Genet; 2007; 52(7):599-606. PubMed ID: 17534573
[TBL] [Abstract][Full Text] [Related]
24. A homozygous mutation in
Bacino C; Chao YH; Seto E; Lotze T; Xia F; Jones RO; Moser A; Wangler MF
Mol Genet Metab Rep; 2015 Dec; 5():15-18. PubMed ID: 26644994
[TBL] [Abstract][Full Text] [Related]
25. Identification of an unusual variant peroxisome biogenesis disorder caused by mutations in the PEX16 gene.
Ebberink MS; Csanyi B; Chong WK; Denis S; Sharp P; Mooijer PA; Dekker CJ; Spooner C; Ngu LH; De Sousa C; Wanders RJ; Fietz MJ; Clayton PT; Waterham HR; Ferdinandusse S
J Med Genet; 2010 Sep; 47(9):608-15. PubMed ID: 20647552
[TBL] [Abstract][Full Text] [Related]
26. Peroxisome biogenesis disorders with prolonged survival: phenotypic expression in a cohort of 31 patients.
Poll-The BT; Gootjes J; Duran M; De Klerk JB; Wenniger-Prick LJ; Admiraal RJ; Waterham HR; Wanders RJ; Barth PG
Am J Med Genet A; 2004 May; 126A(4):333-8. PubMed ID: 15098231
[TBL] [Abstract][Full Text] [Related]
27. Peroxisome biogenesis disorders in the Zellweger spectrum: An overview of current diagnosis, clinical manifestations, and treatment guidelines.
Braverman NE; Raymond GV; Rizzo WB; Moser AB; Wilkinson ME; Stone EM; Steinberg SJ; Wangler MF; Rush ET; Hacia JG; Bose M
Mol Genet Metab; 2016 Mar; 117(3):313-21. PubMed ID: 26750748
[TBL] [Abstract][Full Text] [Related]
28. Novel PEX1 mutations and genotype-phenotype correlations in Australasian peroxisome biogenesis disorder patients.
Maxwell MA; Allen T; Solly PB; Svingen T; Paton BC; Crane DI
Hum Mutat; 2002 Nov; 20(5):342-51. PubMed ID: 12402331
[TBL] [Abstract][Full Text] [Related]
29. Biochemical and genetic characterization of an unusual mild PEX3-related Zellweger spectrum disorder.
Bjørgo K; Fjær R; Mørk HH; Ferdinandusse S; Falkenberg KD; Waterham HR; Øye AM; Sikiric A; Amundsen SS; Kulseth MA; Selmer K
Mol Genet Metab; 2017 Aug; 121(4):325-328. PubMed ID: 28673549
[TBL] [Abstract][Full Text] [Related]
30. Novel PEX11B Mutations Extend the Peroxisome Biogenesis Disorder 14B Phenotypic Spectrum and Underscore Congenital Cataract as an Early Feature.
Taylor RL; Handley MT; Waller S; Campbell C; Urquhart J; Meynert AM; Ellingford JM; Donnelly D; Wilcox G; Lloyd IC; Mundy H; FitzPatrick DR; Deshpande C; Clayton-Smith J; Black GC
Invest Ophthalmol Vis Sci; 2017 Jan; 58(1):594-603. PubMed ID: 28129423
[TBL] [Abstract][Full Text] [Related]
31. Correction by gene expression of biochemical abnormalities in fibroblasts from Zellweger patients.
Shimozawa N; Suzuki Y; Tomatsu S; Tsukamoto T; Osumi T; Fujiki Y; Kamijo K; Hashimoto T; Kondo N; Orii T
Pediatr Res; 1996 May; 39(5):812-5. PubMed ID: 8726233
[TBL] [Abstract][Full Text] [Related]
32. Very-long-chain polyunsaturated fatty acids accumulate in phosphatidylcholine of fibroblasts from patients with Zellweger syndrome and acyl-CoA oxidase1 deficiency.
Abe Y; Honsho M; Nakanishi H; Taguchi R; Fujiki Y
Biochim Biophys Acta; 2014 Apr; 1841(4):610-9. PubMed ID: 24418004
[TBL] [Abstract][Full Text] [Related]
33. Failure of microtubule-mediated peroxisome division and trafficking in disorders with reduced peroxisome abundance.
Nguyen T; Bjorkman J; Paton BC; Crane DI
J Cell Sci; 2006 Feb; 119(Pt 4):636-45. PubMed ID: 16449325
[TBL] [Abstract][Full Text] [Related]
34. The biochemical basis of mitochondrial dysfunction in Zellweger Spectrum Disorder.
Nuebel E; Morgan JT; Fogarty S; Winter JM; Lettlova S; Berg JA; Chen YC; Kidwell CU; Maschek JA; Clowers KJ; Argyriou C; Chen L; Wittig I; Cox JE; Roh-Johnson M; Braverman N; Bonkowsky J; Gygi SP; Rutter J
EMBO Rep; 2021 Oct; 22(10):e51991. PubMed ID: 34351705
[TBL] [Abstract][Full Text] [Related]
35. A PEX6-defective peroxisomal biogenesis disorder with severe phenotype in an infant, versus mild phenotype resembling Usher syndrome in the affected parents.
Raas-Rothschild A; Wanders RJ; Mooijer PA; Gootjes J; Waterham HR; Gutman A; Suzuki Y; Shimozawa N; Kondo N; Eshel G; Espeel M; Roels F; Korman SH
Am J Hum Genet; 2002 Apr; 70(4):1062-8. PubMed ID: 11873320
[TBL] [Abstract][Full Text] [Related]
36. Phenotypic variability (heterogeneity) of peroxisomal disorders.
Mandel H; Korman SH
Adv Exp Med Biol; 2003; 544():9-30. PubMed ID: 14713208
[TBL] [Abstract][Full Text] [Related]
37. Peroxisome Biogenesis Disorders.
Honsho M; Okumoto K; Tamura S; Fujiki Y
Adv Exp Med Biol; 2020; 1299():45-54. PubMed ID: 33417206
[TBL] [Abstract][Full Text] [Related]
38. Biochemical and clinical profiles of 52 Tunisian patients affected by Zellweger syndrome.
Nasrallah F; Zidi W; Feki M; Kacem S; Tebib N; Kaabachi N
Pediatr Neonatol; 2017 Dec; 58(6):484-489. PubMed ID: 28330580
[TBL] [Abstract][Full Text] [Related]
39. Zellweger Syndrome: A Case Report.
Yogi P; Bahik C; Yadav R; Bhattarai P; Pandey R; Manandar SR
JNMA J Nepal Med Assoc; 2024 Feb; 62(270):155-157. PubMed ID: 38409970
[TBL] [Abstract][Full Text] [Related]
40. A newly identified mutation in the
Tanaka AJ; Okumoto K; Tamura S; Abe Y; Hirsch Y; Deng L; Ekstein J; Chung WK; Fujiki Y
Cold Spring Harb Mol Case Stud; 2019 Feb; 5(1):. PubMed ID: 30446579
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]
