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Study the Cellular Functions of Tubulin Chaperone E
Parvari, R. R. & Diaz, G.
United States-Israel Binational Science Foundation
1/01/05 → …
Project: Research
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Chemokine Signaling Defects in Human Immunodeficiency
National Institute of Allergy and Infectious Diseases
15/09/04 → 28/02/09
Project: Research
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Cellular and Molecular Defects in Human B Cell Development
Cunningham-Rundles, C., Cerutti, A., Casanova, J. L., Cerutti, A., Cunningham-Rundles, C., Meffre, E. E., Furtado, G., Diaz, G., Furtado, G. G. C., Casanova, J. J., Mayer, L. L. F., Mayer, L. F., Meffre, E., Cortes, , P., Cortes, P. & Diaz, G. A.
National Institute of Allergy and Infectious Diseases
15/09/04 → 31/07/22
Project: Research
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KENNY CAFFY SYNDROME: BONE SCLEROSIS AND HYPOCALCEMIA
National Institute of Child Health and Human Development
15/07/99 → 30/06/04
Project: Research
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The role and control of arginine levels in arginase 1 deficiency
Diaz, G. A., Bechter, M. & Cederbaum, S. D., Jan 2023, In: Journal of Inherited Metabolic Disease. 46, 1, p. 3-14 12 p.Research output: Contribution to journal › Review article › peer-review
Open Access -
Detection of mosaic variants using genome sequencing in a large pediatric cohort
Odgis, J. A., Gallagher, K. M., Rehman, A. U., Marathe, P. N., Bonini, K. E., Sebastin, M., Di Biase, M., Brown, K., Kelly, N. R., Ramos, M. A., Thomas-Wilson, A., Guha, S., Okur, V., Ganapathi, M., Elkhoury, L., Edelmann, L., Zinberg, R. E., Abul-Husn, N. S., Diaz, G. A., Greally, J. M., & 6 others , 2022, (Accepted/In press) In: American Journal of Medical Genetics, Part A.Research output: Contribution to journal › Article › peer-review
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Epidemiology, methods of diagnosis, and clinical management of patients with arginase 1 deficiency (ARG1-D): A systematic review
Bin Sawad, A., Jackimiec, J., Bechter, M., Trucillo, A., Lindsley, K., Bhagat, A., Uyei, J. & Diaz, G. A., 1 Sep 2022, In: Molecular Genetics and Metabolism. 137, 1-2, p. 153-163 11 p.Research output: Contribution to journal › Review article › peer-review
Open Access -
Erratum: One-year results of a clinical trial of olipudase alfa enzyme replacement therapy in pediatric patients with acid sphingomyelinase deficiency (Genetics in Medicine (2021) 23(8) (1543–1550), (S1098360021050620), (10.1038/s41436-021-01156-3))
Diaz, G. A., Jones, S. A., Scarpa, M., Mengel, K. E., Giugliani, R., Guffon, N., Batsu, I., Fraser, P. A., Li, J., Zhang, Q. & Ortemann-Renon, C., Oct 2022, In: Genetics in Medicine. 24, 10, p. 2209 1 p.Research output: Contribution to journal › Comment/debate
Open Access -
Health care resource utilization in the management of patients with Arginase 1 Deficiency in the US: a retrospective, observational, claims database study
Bin Sawad, A., Jackimiec, J., Bechter, M., Hull, M., Yeaw, J., Wang, Y. & Diaz, G. A., 2022, In: Journal of Medical Economics. 25, 1, p. 848-856 9 p.Research output: Contribution to journal › Article › peer-review
Open Access1 Scopus citations
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1 item of Media coverage
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