Steinberg, Steven J.

Peroxisome biogenesis disorders

Steinberg, S. J., Dodt, G., Raymond, G. V., Braverman, N. E., Moser, A. B., & Moser, H. W. (2006) · Biochimica et Biophysica Acta (BBA) - Molecular Cell Research

Metabolism and Genetic DisordersGlycogen Storage Diseases and Myoclonus

Cited by 522

Peroxisome biogenesis disorders in the Zellweger spectrum: An overview of current diagnosis, clinical manifestations, and treatment guidelines

Braverman, N. E., Raymond, G. V., Rizzo, W. B., Moser, A. B., Wilkinson, M. E., Stone, E. M., Steinberg, S. J., Wangler, M. F., Rush, E. T., Hacia, J. G., et al. (2016) · Molecular Genetics and Metabolism

Metabolism and Genetic DisordersLysosomal Storage Disorders Research

Cited by 281

Newborn screening for X-linked adrenoleukodystrophy (X-ALD): Validation of a combined liquid chromatography–tandem mass spectrometric (LC–MS/MS) method

Hubbard, W. C., Moser, A. B., Liu, A. C., Jones, R. O., Steinberg, S. J., Lorey, F., Panny, S. R., Vogt Jr., R. F., Macaya, D., & Turgeon, C. T. (2009) · Molecular Genetics and Metabolism

Metabolism and Genetic DisordersLysosomal Storage Disorders Research

Cited by 177

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

A Pex7 hypomorphic mouse model for plasmalogen deficiency affecting the lens and skeleton

Braverman, N., Zhang, R., Chen, L., Nimmo, G., Scheper, S., Tran, T., Chaudhury, R., Moser, A., & Steinberg, S. (2010) · Molecular Genetics and Metabolism

Metabolism and Genetic DisordersLysosomal Storage Disorders Research

Cited by 66

The Pex1-G844D mouse: a model for mild human Zellweger spectrum disorder

Hiebler, S., Masuda, T., Hacia, J. G., Moser, A. B., Faust, P. L., Liu, A., Chowdhury, N., Huang, N., Lauer, A., Bennett, J., et al. (2014) · Molecular Genetics and Metabolism

Metabolism and Genetic DisordersLysosomal Storage Disorders Research

Cited by 60

X-linked adrenoleukodystrophy: ABCD1 de novo mutations and mosaicism

Wang, Y., Busin, R., Reeves, C., Bezman, L., Raymond, G., Toomer, C. J., Watkins, P. A., Snowden, A., Moser, A., Naidu, S., et al. (2011) · Molecular Genetics and Metabolism

Metabolism and Genetic DisordersLysosomal Storage Disorders Research

Cited by 58

The gene expression profiles of induced pluripotent stem cells from individuals with childhood cerebral adrenoleukodystrophy are consistent with proposed mechanisms of pathogenesis

Wang, X.-M., Yik, W. Y., Zhang, P., Lu, W., Dranchak, P. K., Shibata, D., Steinberg, S. J., & Hacia, J. G. (2012) · Stem Cell Research & Therapy

Metabolism and Genetic DisordersLysosomal Storage Disorders Research

Cited by 33

Late-onset Zellweger Spectrum Disorder caused by PEX6 mutations mimicking X-Linked adrenoleukodystrophy

Tran, C., Hewson, S., Steinberg, S. J., & Mercimek-Mahmutoglu, S. (2014) · Pediatric Neurology

Metabolism and Genetic DisordersLysosomal Storage Disorders Research

Cited by 21

X-linked adrenoleukodystrophy in a chimpanzee due to an ABCD1 mutation reported in multiple unrelated humans

Curiel, J., Steinberg, S. J., Bright, S., Snowden, A., Moser, A. B., Eichler, F., Dubbs, H. A., Hacia, J. G., Ely, J. J., Bezner, J., et al. (2017) · Molecular Genetics and Metabolism

Metabolism and Genetic DisordersLysosomal Storage Disorders Research

Cited by 8