226 related articles for article (PubMed ID: 7541833)
1. Phenotype of patients with peroxisomal disorders subdivided into sixteen complementation groups.
Moser AB; Rasmussen M; Naidu S; Watkins PA; McGuinness M; Hajra AK; Chen G; Raymond G; Liu A; Gordon D
J Pediatr; 1995 Jul; 127(1):13-22. PubMed ID: 7541833
[TBL] [Abstract][Full Text] [Related]
2. Identification of three distinct peroxisomal protein import defects in patients with peroxisome biogenesis disorders.
Slawecki ML; Dodt G; Steinberg S; Moser AB; Moser HW; Gould SJ
J Cell Sci; 1995 May; 108 ( Pt 5)():1817-29. PubMed ID: 7544797
[TBL] [Abstract][Full Text] [Related]
3. [Peroxisomal neurologic diseases and Refsum disease: very long chain fatty acids and phytanic acid as diagnostic markers].
Molzer B; Stöckler S; Bernheimer H
Wien Klin Wochenschr; 1992; 104(21):665-70. PubMed ID: 1282286
[TBL] [Abstract][Full Text] [Related]
4. Genetic and phenotypic heterogeneity in disorders of peroxisome biogenesis--a complementation study involving cell lines from 19 patients.
Roscher AA; Hoefler S; Hoefler G; Paschke E; Paltauf F; Moser A; Moser H
Pediatr Res; 1989 Jul; 26(1):67-72. PubMed ID: 2475849
[TBL] [Abstract][Full Text] [Related]
5. Phytanic acid alpha-oxidation and complementation analysis of classical Refsum and peroxisomal disorders.
Poll-The BT; Skjeldal OH; Stokke O; Poulos A; Demaugre F; Saudubray JM
Hum Genet; 1989 Jan; 81(2):175-81. PubMed ID: 2463966
[TBL] [Abstract][Full Text] [Related]
6. [Clinical and molecular aspects of peroxisome-deficient disorders].
Suzuki Y; Shimozawa N; Orii T
Nihon Rinsho; 1993 Sep; 51(9):2353-8. PubMed ID: 7692118
[TBL] [Abstract][Full Text] [Related]
7. Genetic relationship between the Zellweger syndrome and other peroxisomal disorders characterized by an impairment in the assembly of peroxisomes.
Tager JM; Brul S; Wiemer EA; Strijland A; Van Driel R; Schutgens RB; Van den Bosch H; Wanders RJ; Westerveld A
Prog Clin Biol Res; 1990; 321():545-58. PubMed ID: 2183242
[TBL] [Abstract][Full Text] [Related]
8. Complementation study of peroxisome-deficient disorders by immunofluorescence staining and characterization of fused cells.
Yajima S; Suzuki Y; Shimozawa N; Yamaguchi S; Orii T; Fujiki Y; Osumi T; Hashimoto T; Moser HW
Hum Genet; 1992 Mar; 88(5):491-9. PubMed ID: 1372585
[TBL] [Abstract][Full Text] [Related]
9. Genetic heterogeneity in the cerebrohepatorenal (Zellweger) syndrome and other inherited disorders with a generalized impairment of peroxisomal functions. A study using complementation analysis.
Brul S; Westerveld A; Strijland A; Wanders RJ; Schram AW; Heymans HS; Schutgens RB; van den Bosch H; Tager JM
J Clin Invest; 1988 Jun; 81(6):1710-5. PubMed ID: 2454948
[TBL] [Abstract][Full Text] [Related]
10. Standardization of complementation grouping of peroxisome-deficient disorders and the second Zellweger patient with peroxisomal assembly factor-1 (PAF-1) defect.
Shimozawa N; Suzuki Y; Orii T; Moser A; Moser HW; Wanders RJ
Am J Hum Genet; 1993 Apr; 52(4):843-4. PubMed ID: 7681622
[No Abstract] [Full Text] [Related]
11. [Clinical biochemical and genetic aspects of peroxisome-deficient disorders].
Suzuki Y
No To Hattatsu; 1992 Mar; 24(2):194-7. PubMed ID: 1373633
[TBL] [Abstract][Full Text] [Related]
12. [Human peroxisome-deficient disorders and pathogenic gene].
Fujiki Y
Rinsho Shinkeigaku; 1994 Dec; 34(12):1219-21. PubMed ID: 7539728
[TBL] [Abstract][Full Text] [Related]
13. Genetic heterogeneity of peroxisome biogenesis disorders among Japanese patients: evidence for a founder haplotype for the most common PEX10 gene mutation.
Shimozawa N; Nagase T; Takemoto Y; Ohura T; Suzuki Y; Kondo N
Am J Med Genet A; 2003 Jul; 120A(1):40-3. PubMed ID: 12794690
[TBL] [Abstract][Full Text] [Related]
14. Disorders of peroxisome biogenesis due to mutations in PEX1: phenotypes and PEX1 protein levels.
Walter C; Gootjes J; Mooijer PA; Portsteffen H; Klein C; Waterham HR; Barth PG; Epplen JT; Kunau WH; Wanders RJ; Dodt G
Am J Hum Genet; 2001 Jul; 69(1):35-48. PubMed ID: 11389485
[TBL] [Abstract][Full Text] [Related]
15. Mutations in the peroxin Pex26p responsible for peroxisome biogenesis disorders of complementation group 8 impair its stability, peroxisomal localization, and interaction with the Pex1p x Pex6p complex.
Furuki S; Tamura S; Matsumoto N; Miyata N; Moser A; Moser HW; Fujiki Y
J Biol Chem; 2006 Jan; 281(3):1317-23. PubMed ID: 16257970
[TBL] [Abstract][Full Text] [Related]
16. Molecular analysis of peroxisomal beta-oxidation enzymes in infants with peroxisomal disorders indicates heterogeneity of the primary defect.
Guerroui S; Aubourg P; Chen WW; Hashimoto T; Scotto J
Biochem Biophys Res Commun; 1989 May; 161(1):242-51. PubMed ID: 2471528
[TBL] [Abstract][Full Text] [Related]
17. Phenotype-genotype relationships in peroxisome biogenesis disorders of PEX1-defective complementation group 1 are defined by Pex1p-Pex6p interaction.
Tamura S; Matsumoto N; Imamura A; Shimozawa N; Suzuki Y; Kondo N; Fujiki Y
Biochem J; 2001 Jul; 357(Pt 2):417-26. PubMed ID: 11439091
[TBL] [Abstract][Full Text] [Related]
18. Peroxisomal disorders: clinical commentary and future prospects.
Wilson GN; Holmes RD; Hajra AK
Am J Med Genet; 1988 Jul; 30(3):771-92. PubMed ID: 2461077
[TBL] [Abstract][Full Text] [Related]
19. Complementation analysis of peroxisomal disorders and classical Refsum.
Poll-The BT; Skjeldal OH; Stokke O; Demaugre F; Saudubray JM
Prog Clin Biol Res; 1990; 321():537-43. PubMed ID: 1691507
[No Abstract] [Full Text] [Related]
20. Genotype-phenotype correlations in disorders of peroxisome biogenesis.
Moser HW
Mol Genet Metab; 1999 Oct; 68(2):316-27. PubMed ID: 10527683
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]