Fingerprint Fingerprint is based on mining the text of the persons scientific documents to create an index of weighted terms, which defines the key subjects of each individual researcher.

Adrenoleukodystrophy Medicine & Life Sciences
Peroxisomal Disorders Medicine & Life Sciences
Fatty Acids Medicine & Life Sciences
Lysophosphatidylcholines Chemical Compounds
Screening Chemical Compounds
Peroxisomes Medicine & Life Sciences
Hemorrhage Medicine & Life Sciences
Blood Chemical Compounds

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Research Output 1990 2017

Antioxidant capacity and superoxide dismutase activity in adrenoleukodystrophy

Turk, B. R., Theisen, B. E., Nemeth, C. L., Marx, J. S., Shi, X., Rosen, M., Jones, R. O., Moser, A. B., Watkins, P. A., Raymond, G. V., Tiffany, C. & Fatemi, A. May 1 2017 In : JAMA Neurology. 74, 5, p. 519-524 6 p.

Research output: Contribution to journalArticle

Adrenoleukodystrophy
Superoxide Dismutase
Antioxidants
Heterozygote
Proteins

Neonatal detection of Aicardi Goutières Syndrome by increased C26: 0 lysophosphatidylcholine and interferon signature on newborn screening blood spots

Armangue, T. , Orsini, J. J. , Takanohashi, A. , Gavazzi, F. , Conant, A. , Ulrick, N. , Morrissey, M. A. , Nahhas, N. , Helman, G. , Gordish-Dressman, H. , Orcesi, S. , Tonduti, D. , Stutterd, C. , van Haren, K. , Toro, C. , Iglesias, A. D. , van der Knaap, M. S. , Goldbach Mansky, R. , Moser, A. B. , Jones, R. O. & 1 others Vanderver, A. 2017 (Accepted/In press) In : Molecular Genetics and Metabolism.

Research output: Contribution to journalArticle

Lysophosphatidylcholines
Interferons
Screening
Blood
Adrenoleukodystrophy

The peroxisomal AAA ATPase complex prevents pexophagy and development of peroxisome biogenesis disorders

Law, K. B., Bronte-Tinkew, D., Di Pietro, E., Snowden, A., Jones, R. O., Moser, A., Brumell, J. H., Braverman, N. & Kim, P. K. May 4 2017 In : Autophagy. 13, 5, p. 868-884 17 p.

Research output: Contribution to journalArticle

Peroxisomes
Adenosine Triphosphatases
Autophagy
Mutation
Proteins

ACBD5 deficiency causes a defect in peroxisomal very long-chain fatty acid metabolism

Ferdinandusse, S., Falkenberg, K. D., Koster, J., Mooyer, P. A., Jones, R., van Roermund, C. W. T., Pizzino, A., Schrader, M., Wanders, R. J. A., Vanderver, A. & Waterham, H. R. Oct 31 2016 (Accepted/In press) In : Journal of Medical Genetics.

Research output: Contribution to journalArticle

Protein Deficiency
Acyl Coenzyme A
Fatty Acids
Retinal Dystrophies
Leukoencephalopathies

A model-based approach to assess the exposure-response relationship of Lorenzo's oil in adrenoleukodystrophy

Ahmed, M. A., Kartha, R. V., Brundage, R. C., Cloyd, J., Basu, C., Carlin, B. P., Jones, R. O., Moser, A. B., Fatemi, A. & Raymond, G. V. 2016 (Accepted/In press) In : British Journal of Clinical Pharmacology.

Research output: Contribution to journalArticle

Adrenoleukodystrophy
Erucic Acids
Fatty Acids
Peroxisomal Disorders
Brain