Research output per year
Research output per year
Personal profile
Headline
DEAN FOR GENETICS AND GENOMIC MEDICINE, PROFESSOR AND CHAIRMAN EMERITUS GENETICS AND GENOMIC SCIENCES | Pediatrics, PROFESSOR | Oncological Sciences, PROFESSOR | OBGYN and Reproductive Science
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Dive into the research topics where Robert Desnick is active. These topic labels come from the works of this person. Together they form a unique fingerprint.
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Collaborations and top research areas from the last five years
Recent external collaboration on country/territory level. Dive into details by clicking on the dots or
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Anderson-Fabry disease management: Role of the cardiologist
Pieroni, M., Namdar, M., Olivotto, I. & Desnick, R. J., 21 Apr 2024, In: European Heart Journal. 45, 16, p. 1395-1409 15 p.Research output: Contribution to journal › Review article › peer-review
Open Access5 Scopus citations -
Cimetidine Does Not Inhibit 5-Aminolevulinic Acid Synthase or Heme Oxygenase Activity: Implications for Treatment of Acute Intermittent Porphyria and Erythropoietic Protoporphyria
Yasuda, M., Lee, S., Gan, L., Bergonia, H. A., Desnick, R. J. & Phillips, J. D., Jan 2024, In: Biomolecules. 14, 1, 27.Research output: Contribution to journal › Article › peer-review
Open Access2 Scopus citations -
Congenital erythropoietic porphyria
To-Figueras, J., Erwin, A. L., Aguilera, P., Millet, O. & Desnick, R. J., Aug 2024, In: Liver International. 44, 8, p. 1842-1855 14 p.Research output: Contribution to journal › Review article › peer-review
1 Scopus citations -
Nonlinear Mixed-Effects Model of Z-Endoxifen Concentrations in Tamoxifen-Treated Patients from the CEPAM Cohort
the CYP2D6 Endoxifen Percentage Activity Model (CEPAM) Consortium, Sep 2024, In: Clinical Pharmacology and Therapeutics. 116, 3, p. 690-702 13 p.Research output: Contribution to journal › Article › peer-review
Open Access1 Scopus citations -
Reduction in kidney function decline and risk of severe clinical events in agalsidase beta-Treated Fabry disease patients: A matched analysis from the Fabry Registry
Batista, J. L., Hariri, A., Maski, M., Richards, S., Gudivada, B., Raynor, L. A., Ponce, E., Wanner, C. & Desnick, R. J., 1 Aug 2024, In: CKJ: Clinical Kidney Journal. 17, 8, sfae194.Research output: Contribution to journal › Article › peer-review
Open Access
Press/Media
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Australian Patent Office Grants Patent for 'DOSE ESCALATION ENZYME REPLACEMENT THERAPY FOR TREATING ACID SPHINGOMYELINASE DEFICIENCY'
28/06/24
1 item of Media coverage
Press/Media
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THE WINNER OF THE 11TH EDITION OF THE INTERNATIONAL PRIZE FOR SCIENTIFIC RESEARCH ARRIGO RECORDATI ANNOUNCED
16/05/24
1 item of Media coverage
Press/Media
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Australian Patent Office Grants Patent for 'COMPOSITIONS AND METHODS FOR INHIBITING EXPRESSION OF THE ALAS1 GENE'
21/03/24
1 item of Media coverage
Press/Media