Moser, Ann B.

Functions of plasmalogen lipids in health and disease

Braverman, N. E., & Moser, A. B. (2012) · Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease

Lipid metabolism and biosynthesisMetabolism and Genetic Disorders

Cited by 1,082

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

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

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

Mutations in the gene encoding 3β- hydroxysteroid-Δ8,Δ7- isomerase cause X-linked dominant Conradi-Hünermann syndrome

Braverman, N., Lin, P., Moebius, F. F., Obie, C., Moser, A., Glossmann, H., Wilcox, W. R., Rimoin, D. L., Smith, M., Kratz, L., et al. (1999) · Nature Genetics

Metabolism and Genetic DisordersCholesterol and Lipid Metabolism

Cited by 285

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

The Inflammatory Myelinopathy of Adreno-Leukodystrophy: Cells, Effector Molecules, and Pathogenetic Implications

POWERS, J. M., LIU, Y., MOSER, A. B., & MOSER, H. W. (1992) · Journal of Neuropathology and Experimental Neurology

Multiple Sclerosis Research StudiesNeuroinflammation and Neurodegeneration Mechanisms

Cited by 265

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

Follow-up of 89 asymptomatic patients with adrenoleukodystrophy treated with Lorenzo's oil

Moser, H. W., Raymond, G. V., Lu, S.-E., Muenz, L. R., Moser, A. B., Xu, J., Jones, R. O., Loes, D. J., Melhem, E. R., Dubey, P., et al. (2005) · Archives of Neurology

Metabolism and Genetic DisordersLysosomal Storage Disorders Research

Cited by 239

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

Neonatal adrenoleukodystrophy: new cases, biochemical studies, and differentiation from Zellweger and related peroxisomal polydystrophy syndromes

Kelley, R. I., Datta, N. S., Dobyns, W. B., Hajra, A. K., Moser, A. B., Noetzel, M. J., Zackai, E. H., Moser, H. W., Opitz, J. M., & Reynolds, J. F. (1986) · American Journal of Medical Genetics

Metabolism and Genetic DisordersGenetic and rare skin diseases.

Cited by 219

Adrenomyeloneuropathy: A Neuropathologic Review Featuring Its Noninflammatory Myelopathy

Powers, J. M., DeCiero, D. P., Ito, M., Moser, A. B., & Moser, H. W. (2000) · Journal of Neuropathology & Experimental Neurology

Hereditary Neurological DisordersMetabolism and Genetic Disorders

Cited by 204

Is microglial apoptosis an early pathogenic change in cerebral X-linked adrenoleukodystrophy?

Eichler, F. S., Ren, J., Cossoy, M., Rietsch, A. M., Nagpal, S., Moser, A. B., Frosch, M. P., & Ransohoff, R. M. (2008) · Annals of Neurology

Neuroinflammation and Neurodegeneration MechanismsMultiple Sclerosis Research Studies

Cited by 178

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

International Recommendations for the Diagnosis and Management of Patients With Adrenoleukodystrophy

Engelen, M., van Ballegoij, W. J. C., Mallack, E. J., Van Haren, K. P., Köhler, W., Salsano, E., van Trotsenburg, A. S. P., Mochel, F., Sevin, C., Regelmann, M. O., et al. (2022) · Neurology

Metabolism and Genetic DisordersLysosomal Storage Disorders Research

Cited by 156

Clinical, biochemical, and mutational spectrum of peroxisomal acyl-coenzyme A oxidase deficiency

Ferdinandusse, S., Denis, S., Hogenhout, E. M., Koster, J., van Roermund, C. W. T., IJlst, L., Moser, A. B., Wanders, R. J. A., & Waterham, H. R. (2007) · Human Mutation

Metabolism and Genetic DisordersNeurological diseases and metabolism

Cited by 156

Loss-or gain-of-function mutations in ACOX1 cause axonal loss via different mechanisms

Chung, H.-L., Wangler, M. F., Marcogliese, P. C., Jo, J., Ravenscroft, T. A., Zuo, Z., Duraine, L., Sadeghzadeh, S., Li-Kroeger, D., Schmidt, R. E., et al. (2020) · Neuron

Hereditary Neurological DisordersMetabolism and Genetic Disorders

Cited by 154

Adrenal insufficiency in asymptomatic adrenoleukodystrophy patients identified by very long-chain fatty acid screening

Dubey, P., Raymond, G. V., Moser, A. B., Kharkar, S., Bezman, L., & Moser, H. W. (2005) · The Journal of Pediatrics

Adrenal Hormones and DisordersMetabolism and Genetic Disorders

Cited by 145

Clinical aspects of adrenoleukodystrophy and adrenomyeloneuropathy

Moser, H. W., Moser, A. B., Naidu, S., & Bergin, A. (1991) · Developmental Neuroscience

Metabolism and Genetic DisordersLysosomal Storage Disorders Research

Cited by 139

Mutation analysis ofPEX7 in 60 probands with rhizomelic chondrodysplasia punctata and functional correlations of genotype with phenotype

Braverman, N., Chen, L., Lin, P., Obie, C., Steel, G., Douglas, P., Chakraborty, P. K., Clarke, J. T. R., Boneh, A., Moser, A., et al. (2002) · Human Mutation

Metabolism and Genetic DisordersLysosomal Storage Disorders Research

Cited by 134

A novel bile acid biosynthesis defect due to a deficiency of peroxisomal ABCD3

Ferdinandusse, S., Jimenez-Sanchez, G., Koster, J., Denis, S., Van Roermund, C. W., Silva-Zolezzi, I., Moser, A. B., Visser, W. F., Gulluoglu, M., Durmaz, O., et al. (2015) · Human Molecular Genetics

Metabolism and Genetic DisordersDrug Transport and Resistance Mechanisms

Cited by 134

Biochemical abnormalities in rhizomelic chondrodysplasia punctata

Hoefler, G., Hoefler, S., Watkins, P. A., Chen, W. W., Moser, A., Baldwin, V., McGillivary, B., Charrow, J., Friedman, J. M., Rutledge, L., et al. (1988) · The Journal of Pediatrics

Metabolism and Genetic DisordersLysosomal Storage Disorders Research

Cited by 133

Newborn Screening for X-Linked Adrenoleukodystrophy

Moser, A., Jones, R., Hubbard, W., Tortorelli, S., Orsini, J., Caggana, M., Vogel, B., & Raymond, G. (2016) · International Journal of Neonatal Screening

Metabolism and Genetic DisordersLysosomal Storage Disorders Research

Cited by 106

The Dorsal Root Ganglia in Adrenomyeloneuropathy: Neuronal Atrophy and Abnormal Mitochondria

Powers, J. M., Deciero, D. P., Cox, C., Richfield, E. K., Ito, M., Moser, A. B., & Moser, H. W. (2001) · Journal of Neuropathology & Experimental Neurology

Hereditary Neurological DisordersGenetic Neurodegenerative Diseases

Cited by 96