Molecular analysis of X-linked adrenoleukodystrophy patients.

Keywords

Humanities, Philosophy

References

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Cited by

• Mutation analysis of the ALD gene in seven Japanese families with X-linked adrenoleukodystrophyTadashi Matsumoto, Akira Tsuru, Nagisa Amamoto — 2003
• Protease Inhibitors Suppress the Degradation of Mutant Adrenoleukodystrophy Proteins but Do Not Correct Impairment of Very Long Chain Fatty Acid Metabolism in Adrenoleukodystrophy FibroblastsTakeshi Yamada, Nobue Shinnoh, Takuro Kobayashi — 1997
• X-Linked Adrenoleukodystrophy: Genes, Mutations, and PhenotypesKirby D. Smith, Stephan Kemp, Lelita T. Braiterman — 2004
• Mutational and protein analysis of patients and heterozygous women with X-linked adrenoleukodystrophy.Valérie Feigenbaum, G Lombard-Platet, Sylvie Guidoux — 1996
• Adrenoleukodystrophy protein-deficient mice represent abnormality of very long chain fatty acid metabolism.Takuro Kobayashi, Nobue Shinnoh, Akira Kondo — 1997
• Mitochondrial abnormalities and intrafamilial variability of sural nerve biopsy findings in adrenomyeloneuropathyJ. M. Schröder, Michael F. Mayer, Joachim Weis — 1996
• Novel missense and frameshift mutations in the adrenoleukodystrophy geneHisao Ueyama, Tsunekazu Yamano, Morimi Shimada — 1996
• Baicalein 5,6,7‐trimethyl ether, a flavonoid derivative, stimulates fatty acid β‐oxidation in skin fibroblasts of X‐linked adrenoleukodystrophyMasashi Morita, Ikuko Takahashi, Mariko Kanai — 2005
• Mutational analysis of X-linked adrenoleukodystrophy geneHiroki Takano, Ryoko Koike, Osamu Onodera — 2007
• Very-long-chain fatty acid metabolism in adrenoleukodystrophy protein-deficient miceTakeshi Yamada, Nobue Shinnoh, Akira Kondo — 2007
• Two novel mutations in the adrenoleukodystrophy gene in two unrelated Japanese families and the long-term effect of bone marrow transplantation.Ohi T, Shinji Takechi, N Itokazu — 2000
• Therapeutic effects of normal cells on ABCD1 deficient cells in vitro and hematopoietic cell transplantation in the X-ALD mouse model.Takeshi Yamada, Yasumasa Ohyagi, Nobue Shinnoh — 2004
• Mutations in the adrenoleukodystrophy geneAndrew Dodd, Shelley A. Rowland, Sheryl L. J. Hawkes — 1997
• Characterization of a novel mutation in exon 10 of the adrenoleukodystrophy geneAndreas Holzinger, Esther M. Maier, Sylvia Stöckler‐lpsiroglu — 1998
• Molecular characterization of 21 X-ALD Portuguese families: identification of eight novel mutations in the ABCD1 gene.Carla P. Guimarães, Manuela Lemos, Clara Sá-Miranda — 2002
• X‐linked adrenoleukodystrophy in Spain. Identification of 26 novel mutations in the ABCD1 gene in 80 patients. Improvement of genetic counseling in 162 relative femalesMJ Coll, Núria Palau, Carme Camps — 2005
• Mutational analysis and genotype-phenotype correlation of 29 unrelated Japanese patients with X-linked adrenoleukodystrophy.Hiroki Takano, Ryoko Koike, Osamu Onodera — 1999
• UvA-DARE ( Digital Academic Repository ) Molecular biology and pharmacogenetics of x-linked adrenoleukodystrophyS. Kemp, P. Mooyer, P. Bolhuis — 2012
• irtner ' Clinical and Genetic Aspects of X-LinkedAdrenoleu kodystrop — 2007

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