E-LIB Suche - Ergebnisse für: Rodriguez-Buritica, David F.

1

Effects of DTX401 gene therapy administration on endocrine ..:

Derks, Terry G.J. ; Rodriguez-Buritica, David F. ; Riba-Wolman, Rebecca...
Molecular Genetics and Metabolism. 141 (2024) 4 - p. 108313 , 2024

Link: https://doi.org/10.1016/..

2

Trial interviews to explore glycogen storage disease type I..:

Turner-Bowker, Diane ; Malkus, Betsy ; Egan, Shayna...
Molecular Genetics and Metabolism. 141 (2024) 4 - p. 108269 , 2024

Link: https://doi.org/10.1016/..

3

A Phase 1/2 first-in-human study to evaluate the safety, to..:

Rodriguez-Buritica, David F. ; Mozaffar, Tahseen ; Comi, Giacomo P....
Molecular Genetics and Metabolism. 141 (2024) 4 - p. 108250 , 2024

Link: https://doi.org/10.1016/..

4

Route of delivery does not impact postnatal surgical morbid..:

Brar, Bobby K. ; Bober, Michael B. ; Gough, Ethan...
Genetics in Medicine. 25 (2023) 7 - p. 100845 , 2023

Link: https://doi.org/10.1016/..

5

Achondroplasia natural history study (CLARITY): 60-year exp..:

Nahm, Nickolas J. ; Mackenzie, W. G. Stuart ; Mackenzie, William G....
Orphanet Journal of Rare Diseases. 18 (2023) 1 - p. , 2023

Link: https://doi.org/10.1186/..

6

COHORT 1-4 RESULTS FROM A PHASE 1/2 CLINICAL TRIAL OF AN AA..:

Rodriguez-Buritica, David F. ; Ahmad, Ayesha ; Pico, Maria-Luz Couce...
Molecular Genetics and Metabolism. 135 (2022) 4 - p. 296 , 2022

Link: https://doi.org/10.1016/..

7

Laparoscopic ovarian tissue harvesting for cryopreservation..:

Vash-Margita, Alla ; Szymanska-Vandendriessche, Katarzyna ; Gunther, Kathryn...
Fertility and Sterility. 118 (2022) 5 - p. 982-984 , 2022

Link: https://doi.org/10.1016/..

8

Growth in achondroplasia including stature, weight, weight-..:

Hoover-Fong, Julie E. ; Schulze, Kerry J. ; Alade, Adekemi Y....
Orphanet Journal of Rare Diseases. 16 (2021) 1 - p. , 2021

Link: https://doi.org/10.1186/..

9

FERTILITY PRESERVATION MANAGEMENT AND OVARIAN TISSUE CRYOPR..:

Szymanska, Katarzyna ; Vash-Margita, Alla ; Gunther, Kathryn..
Fertility and Sterility. 116 (2021) 3 - p. e57 , 2021

Link: https://doi.org/10.1016/..

10

Updated International Tuberous Sclerosis Complex Diagnostic..:

Northrup, Hope ; Aronow, Mary E. ; Bebin, E. Martina...
Pediatric Neurology. 123 (2021) - p. 50-66 , 2021

Link: https://doi.org/10.1016/..

11

Achondroplasia Natural History Study (CLARITY): a multicent..:

Hoover-Fong, Julie E. ; Alade, Adekemi Y. ; Hashmi, S. Shahrukh...
Genetics in Medicine. 23 (2021) 8 - p. 1498-1505 , 2021

Link: https://doi.org/10.1038/..

12

Glycogen Storage Disease Type Ia: Current Management Option..:

Derks, Terry G. J. ; Rodriguez-Buritica, David F. ; Ahmad, Ayesha...
Nutrients. 13 (2021) 11 - p. 3828 , 2021

Link: https://doi.org/10.3390/..

13

JARID2 haploinsufficiency is associated with a clinically d..:

Verberne, Eline A. ; Goh, Shuxiang ; England, Jade...
Genetics in Medicine. 23 (2021) 2 - p. 374-383 , 2021

Link: https://doi.org/10.1038/..

14

Bone Health in Adults with Phenylketonuria: A Cross-Section..:

Aggarwal, Anjali ; Northrup, Hope ; Rodriguez-Buritica, David F...
Journal of Inborn Errors of Metabolism and Screening. 9 (2021) - p. , 2021

Link: https://doi.org/10.1590/..

15

Two Cases of Fatal Hyperammonemia Syndrome due to Mycoplasm..:

Nowbakht, Cima ; Edwards, Angelina R ; Rodriguez-Buritica, David F...
Open Forum Infectious Diseases. 6 (2019) 3 - p. , 2019

Link: https://doi.org/10.1093/..