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The role of orotic acid measurement in routine newborn screening for urea cycle disorders.

Journal of inherited metabolic disease

Staretz-Chacham O, Daas S, Ulanovsky I, Blau A, Rostami N, Saraf-Levy T, Abu Salah N, Anikster Y, Banne E, Dar D, Dumin E, Fattal-Valevski A, Falik-Zaccai T, Hershkovitz E, Josefsberg S, Khammash H, Keidar R, Korman SH, Landau Y, Lerman-Sagie T, Mandel D, Mandel H, Marom R, Morag I, Nadir E, Yosha-Orpaz N, Pode-Shakked B, Pras E, Reznik-Wolf H, Saada A, Segel R, Shaag A, Shaul Lotan N, Spiegel R, Tal G, Vaisid T, Zeharia A, Almashanu S.
PMID: 33190319
J Inherit Metab Dis. 2021 May;44(3):606-617. doi: 10.1002/jimd.12331. Epub 2020 Nov 30.

Urea cycle disorders (UCDs), including OTC deficiency (OTCD), are life-threatening diseases with a broad clinical spectrum. Early diagnosis and initiation of treatment based on a newborn screening (NBS) test for OTCD with high specificity and sensitivity may contribute to...

Cite
Staretz-Chacham O, Daas S, Ulanovsky I, et al. The role of orotic acid measurement in routine newborn screening for urea cycle disorders. J Inherit Metab Dis. 2020;44(3):606-617doi: 10.1002/jimd.12331.
Staretz-Chacham, O., Daas, S., Ulanovsky, I., Blau, A., Rostami, N., Saraf-Levy, T., Abu Salah, N., Anikster, Y., Banne, E., Dar, D., Dumin, E., Fattal-Valevski, A., Falik-Zaccai, T., Hershkovitz, E., Josefsberg, S., Khammash, H., Keidar, R., Korman, S. H., Landau, Y., Lerman-Sagie, T., Mandel, D., Mandel, H., Marom, R., Morag, I., Nadir, E., Yosha-Orpaz, N., Pode-Shakked, B., Pras, E., Reznik-Wolf, H., Saada, A., Segel, R., Shaag, A., Shaul Lotan, N., Spiegel, R., Tal, G., Vaisid, T., Zeharia, A., & Almashanu, S. (2021). The role of orotic acid measurement in routine newborn screening for urea cycle disorders. Journal of inherited metabolic disease, 44(3), 606-617. https://doi.org/10.1002/jimd.12331
Staretz-Chacham, Orna, et al. "The role of orotic acid measurement in routine newborn screening for urea cycle disorders." Journal of inherited metabolic disease vol. 44,3 (2021): 606-617. doi: https://doi.org/10.1002/jimd.12331
Staretz-Chacham O, Daas S, Ulanovsky I, Blau A, Rostami N, Saraf-Levy T, Abu Salah N, Anikster Y, Banne E, Dar D, Dumin E, Fattal-Valevski A, Falik-Zaccai T, Hershkovitz E, Josefsberg S, Khammash H, Keidar R, Korman SH, Landau Y, Lerman-Sagie T, Mandel D, Mandel H, Marom R, Morag I, Nadir E, Yosha-Orpaz N, Pode-Shakked B, Pras E, Reznik-Wolf H, Saada A, Segel R, Shaag A, Shaul Lotan N, Spiegel R, Tal G, Vaisid T, Zeharia A, Almashanu S. The role of orotic acid measurement in routine newborn screening for urea cycle disorders. J Inherit Metab Dis. 2021 May;44(3):606-617. doi: 10.1002/jimd.12331. Epub 2020 Nov 30. PMID: 33190319.
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Teaching clinicians practical genomic medicine: 7 years' experience in a tertiary care center.

Genetics in medicine : official journal of the American College of Medical Genetics

Michaelson-Cohen R, Salzer-Sheelo L, Sukenik-Halevy R, Koifman A, Fellner A, Reches A, Marom D, Behar DM, Sofrin-Drucker E, Zaks-Hoffer G, Weiss-Hubshmann M, Oresntein N, Kropach-Gilad N, Rhurman-Shahar N, Averbuch NS, Magal N, Bazak L, Josefberg S, Matar R, Goldberg Y, Shohat M, Basel-Salmon L, Maya I.
PMID: 32616942
Genet Med. 2020 Oct;22(10):1703-1709. doi: 10.1038/s41436-020-0868-4. Epub 2020 Jul 03.

PURPOSE: Increased implementation of complex genetic technologies in clinical practice emphasizes the urgency of genomic literacy and proficiency for medical professionals. We evaluated our genomic education model.METHODS: We assessed the 5-day, extended format program, encompassing lectures, videos, interactive tests,...

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Michaelson-Cohen R, Salzer-Sheelo L, Sukenik-Halevy R, et al. Teaching clinicians practical genomic medicine: 7 years' experience in a tertiary care center. Genet Med. 2020;22(10):1703-1709doi: 10.1038/s41436-020-0868-4.
Michaelson-Cohen, R., Salzer-Sheelo, L., Sukenik-Halevy, R., Koifman, A., Fellner, A., Reches, A., Marom, D., Behar, D. M., Sofrin-Drucker, E., Zaks-Hoffer, G., Weiss-Hubshmann, M., Oresntein, N., Kropach-Gilad, N., Rhurman-Shahar, N., Averbuch, N. S., Magal, N., Bazak, L., Josefberg, S., Matar, R., Goldberg, Y., Shohat, M., Basel-Salmon, L., & Maya, I. (2020). Teaching clinicians practical genomic medicine: 7 years' experience in a tertiary care center. Genetics in medicine : official journal of the American College of Medical Genetics, 22(10), 1703-1709. https://doi.org/10.1038/s41436-020-0868-4
Michaelson-Cohen, Rachel, et al. "Teaching clinicians practical genomic medicine: 7 years' experience in a tertiary care center." Genetics in medicine : official journal of the American College of Medical Genetics vol. 22,10 (2020): 1703-1709. doi: https://doi.org/10.1038/s41436-020-0868-4
Michaelson-Cohen R, Salzer-Sheelo L, Sukenik-Halevy R, Koifman A, Fellner A, Reches A, Marom D, Behar DM, Sofrin-Drucker E, Zaks-Hoffer G, Weiss-Hubshmann M, Oresntein N, Kropach-Gilad N, Rhurman-Shahar N, Averbuch NS, Magal N, Bazak L, Josefberg S, Matar R, Goldberg Y, Shohat M, Basel-Salmon L, Maya I. Teaching clinicians practical genomic medicine: 7 years' experience in a tertiary care center. Genet Med. 2020 Oct;22(10):1703-1709. doi: 10.1038/s41436-020-0868-4. Epub 2020 Jul 03. PMID: 32616942.
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Showing 1 to 2 of 2 entries