Smith, Kirby D.
McKusick–Nathans Institute for Genetic Medicine and
13 papers on CoChatORCID 0000-0002-8301-9625
Most cited papers
- Verified
Sulforaphane treatment of autism spectrum disorder (ASD)
Singh, K., Connors, S. L., Macklin, E. A., Smith, K. D., Fahey, J. W., Talalay, P., & Zimmerman, A. W. (2014) · Proceedings of the National Academy of Sciences
Autism Spectrum Disorder ResearchChild Nutrition and Feeding Issues
Cited by 449
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Adrenoleukodystrophy: Incidence, new mutation rate, and results of extended family screening
Bezman, L., Moser, A. B., Raymond, G. V., Rinaldo, P., Watkins, P. A., Smith, K. D., Kass, N. E., & Moser, H. W. (2001) · Annals of Neurology
Metabolism and Genetic DisordersLysosomal Storage Disorders Research
Cited by 324
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A mouse model for X-linked adrenoleukodystrophy
Lu, J.-F., Lawler, A. M., Watkins, P. A., Powers, J. M., Moser, A. B., Moser, H. W., & Smith, K. D. (1997) · Proceedings of the National Academy of Sciences
Metabolism and Genetic DisordersLysosomal Storage Disorders Research
Cited by 293
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Gene redundancy and pharmacological gene therapy: Implications for X-linked adrenoleukodystrophy
Kemp, S., Wei, H.-M., Lu, J.-F., Braiterman, L. T., McGuinness, M. C., Moser, A. B., Watkins, P. A., & Smith, K. D. (1998) · Nature Medicine
Metabolism and Genetic DisordersLysosomal Storage Disorders Research
Cited by 249
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Adrenoleukodystrophy: Phenotypic variability and implications for therapy
Moser, H. W., Moser, A. B., Smith, K. D., Bergin, A., Borel, J., Shankroff, J., Stine, O. C., Merette, C., Ott, J., Krivit, W., et al. (1992) · Journal of Inherited Metabolic Disease
Metabolism and Genetic DisordersLysosomal Storage Disorders Research
Cited by 239
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X-linked adrenoleukodystrophy: Genes, mutations, and phenotypes
Smith, K. D., Kemp, S., Braiterman, L. T., Lu, J.-F., Wei, H.-M., Geraghty, M., Stetten, G., Bergin, J. S., Pevsner, J., & Watkins, P. A. (1999) · Neurochemical Research
Metabolism and Genetic DisordersLysosomal Storage Disorders Research
Cited by 190
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Role of ALDP (ABCD1) and Mitochondria in X-Linked Adrenoleukodystrophy
McGuinness, M. C., Lu, J.-F., Zhang, H.-P., Dong, G.-X., Heinzer, A. K., Watkins, P. A., Powers, J., & Smith, K. D. (2003) · Molecular and Cellular Biology
Metabolism and Genetic DisordersLysosomal Storage Disorders Research
Cited by 147
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Potential Environmental and Host Participants in the Early White Matter Lesion of Adreno-Leukodystrophy: Morphologic Evidence for CD8 Cytotoxic T Cells, Cytolysis of Oligodendrocytes, and CD1-Mediated Lipid Antigen Presentation
Ito, M., Blumberg, B. M., Mock, D. J., Goodman, A. D., Moser, A. B., Moser, H. W., Smith, K. D., & Powers, J. M. (2001) · Journal of Neuropathology & Experimental Neurology
Multiple Sclerosis Research StudiesNeuroinflammation and Neurodegeneration Mechanisms
Cited by 125
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Mutational analysis of patients with X-linked adrenoleukodystrophy
Kok, F., Neumann, S., Sarde, C.-O., Zheng, S., Wu, K.-H., Wei, H.-M., Bergin, J., Watkins, P. A., Gould, S., Sack, G., et al. (1995) · Human Mutation
Metabolism and Genetic DisordersHereditary Neurological Disorders
Cited by 103
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Human leukocyte antigens and cytokine expression in cerebral inflammatory demyelinative lesions of X-linked adrenoleukodystrophy and multiple sclerosis
McGuinness, M. C., Powers, J. M., Bias, W. B., Schmeckpeper, B. J., Segal, A. H., Gowda, V. C., Wesselingh, S. L., Berger, J., Griffin, D. E., & Smith, K. D. (1997) · Journal of Neuroimmunology
Multiple Sclerosis Research StudiesLysosomal Storage Disorders Research
Cited by 89
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Contiguous deletion of the X‐linked adrenoleukodystrophy gene (ABCD1) and DXS1357E: a novel neonatal phenotype similar to peroxisomal biogenesis disorders
Corzo, D., Gibson, W., Johnson, K., Mitchell, G., LePage, G., Cox, G. F., Casey, R., Zeiss, C., Tyson, H., Cutting, G. R., et al. (2002) · The American Journal of Human Genetics
Metabolism and Genetic DisordersLysosomal Storage Disorders Research
Cited by 85
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Evaluation of pharmacological induction of fatty acid β-oxidation in X-linked Adrenoleukodystrophy
McGuinness, M. C., Zhang, H.-P., & Smith, K. D. (2001) · Molecular Genetics and Metabolism
Metabolism and Genetic DisordersLysosomal Storage Disorders Research
Cited by 51
- Verified · note
Expression of ALDP Is Altered in X‐linked Adrenoleukodystrophy
WATKINS, P. A., GOULD, S. J., SMITH, M. A., BRAITERMAN, L. T., WEI, H., KOK, F., MOSER, A. B., MOSER, H. W., & SMITH, K. D. (1996) · Annals of the New York Academy of Sciences
Metabolism and Genetic DisordersLysosomal Storage Disorders Research
Cited by 1
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