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Year Number of Results
2015 1
2017 1
2019 1
2020 1
2021 8
2022 0
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11 results
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Page 1
Glycogen Storage Disease Type Ia: Current Management Options, Burden and Unmet Needs.
Derks TGJ, Rodriguez-Buritica DF, Ahmad A, de Boer F, Couce ML, Grünert SC, Labrune P, López Maldonado N, Fischinger Moura de Souza C, Riba-Wolman R, Rossi A, Saavedra H, Gupta RN, Valayannopoulos V, Mitchell J. Derks TGJ, et al. Among authors: rodriguez buritica df. Nutrients. 2021 Oct 27;13(11):3828. doi: 10.3390/nu13113828. Nutrients. 2021. PMID: 34836082 Free PMC article. Review.
JARID2 haploinsufficiency is associated with a clinically distinct neurodevelopmental syndrome.
Verberne EA, Goh S, England J, van Ginkel M, Rafael-Croes L, Maas S, Polstra A, Zarate YA, Bosanko KA, Pechter KB, Bedoukian E, Izumi K, Chaudhry A, Robin NH, Boothe M, Lippa NC, Aggarwal V, De Vivo DC, Lehman A, Study C, Stockler S, Bruel AL, Isidor B, Lemons J, Rodriguez-Buritica DF, Richmond CM, Stark Z, Agrawal PB, Kooy RF, Meuwissen MEC, Koolen DA, Pfundt R, Lieden A, Anderlid BM, Glatz D, Mannens MMAM, Bakshi M, Mallette FA, van Haelst MM, Campeau PM. Verberne EA, et al. Among authors: rodriguez buritica df. Genet Med. 2021 Feb;23(2):374-383. doi: 10.1038/s41436-020-00992-z. Epub 2020 Oct 20. Genet Med. 2021. PMID: 33077894
Updated International Tuberous Sclerosis Complex Diagnostic Criteria and Surveillance and Management Recommendations.
Northrup H, Aronow ME, Bebin EM, Bissler J, Darling TN, de Vries PJ, Frost MD, Fuchs Z, Gosnell ES, Gupta N, Jansen AC, Jóźwiak S, Kingswood JC, Knilans TK, McCormack FX, Pounders A, Roberds SL, Rodriguez-Buritica DF, Roth J, Sampson JR, Sparagana S, Thiele EA, Weiner HL, Wheless JW, Towbin AJ, Krueger DA; International Tuberous Sclerosis Complex Consensus Group. Northrup H, et al. Among authors: rodriguez buritica df. Pediatr Neurol. 2021 Oct;123:50-66. doi: 10.1016/j.pediatrneurol.2021.07.011. Epub 2021 Jul 24. Pediatr Neurol. 2021. PMID: 34399110 Free article.
Achondroplasia Natural History Study (CLARITY): a multicenter retrospective cohort study of achondroplasia in the United States.
Hoover-Fong JE, Alade AY, Hashmi SS, Hecht JT, Legare JM, Little ME, Liu C, McGready J, Modaff P, Pauli RM, Rodriguez-Buritica DF, Schulze KJ, Serna ME, Smid CJ, Bober MB. Hoover-Fong JE, et al. Among authors: rodriguez buritica df. Genet Med. 2021 Aug;23(8):1498-1505. doi: 10.1038/s41436-021-01165-2. Epub 2021 May 18. Genet Med. 2021. PMID: 34006999 Free PMC article.
Achondroplasia Natural History Study (CLARITY): 60-year experience in cervicomedullary decompression in achondroplasia from four skeletal dysplasia centers.
Legare JM, Liu C, Pauli RM, Alade AY, Hashmi SS, Campbell JW, Smid CJ, Modaff P, Little ME, Rodriguez-Buritica DF, Serna ME, Hecht JT, Hoover-Fong JE, Bober MB. Legare JM, et al. Among authors: rodriguez buritica df. J Neurosurg Pediatr. 2021 Jun 4:1-7. doi: 10.3171/2020.12.PEDS20715. Online ahead of print. J Neurosurg Pediatr. 2021. PMID: 34087800
Growth in achondroplasia including stature, weight, weight-for-height and head circumference from CLARITY: achondroplasia natural history study-a multi-center retrospective cohort study of achondroplasia in the US.
Hoover-Fong JE, Schulze KJ, Alade AY, Bober MB, Gough E, Hashmi SS, Hecht JT, Legare JM, Little ME, Modaff P, Pauli RM, Rodriguez-Buritica DF, Serna ME, Smid C, Liu C, McGready J. Hoover-Fong JE, et al. Among authors: rodriguez buritica df. Orphanet J Rare Dis. 2021 Dec 23;16(1):522. doi: 10.1186/s13023-021-02141-4. Orphanet J Rare Dis. 2021. PMID: 34949201 Free PMC article.
Two Cases of Fatal Hyperammonemia Syndrome due to Mycoplasma hominis and Ureaplasma urealyticum in Immunocompromised Patients Outside Lung Transplant Recipients.
Nowbakht C, Edwards AR, Rodriguez-Buritica DF, Luce AM, Doshi PB, De Golovine A, Bynon JS, Nigo M. Nowbakht C, et al. Among authors: rodriguez buritica df. Open Forum Infect Dis. 2019 Mar 4;6(3):ofz033. doi: 10.1093/ofid/ofz033. eCollection 2019 Mar. Open Forum Infect Dis. 2019. PMID: 30863787 Free PMC article. No abstract available.
11 results