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

  • 4 Similar Profiles
Adrenoleukodystrophy Medicine & Life Sciences
Fatty Acids Medicine & Life Sciences
Hemorrhage Medicine & Life Sciences
Peroxisomal Disorders Medicine & Life Sciences
Screening Chemical Compounds
Blood Chemical Compounds
Therapeutics Medicine & Life Sciences
Newborn Infant Medicine & Life Sciences

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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: Research - peer-reviewArticle

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: Research - peer-reviewArticle

Lysophosphatidylcholines
Interferons
Newborn Infant
Aicardi-Goutieres syndrome
Screening

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: Research - peer-reviewArticle

Peroxisomes
Adenosine Triphosphatases
Peroxisome biogenesis disorders
Proteins
Mutation

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: Research - peer-reviewArticle

Protein Deficiency
Acyl Coenzyme A
Fatty Acids
Protein Domains
Retinal Dystrophies

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: Research - peer-reviewArticle

Adrenoleukodystrophy
Lorenzo's oil
erucic acid
Fatty Acids
Brain