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289 results on '"Thurberg, Beth L."'

1. Continued improvement in disease manifestations of acid sphingomyelinase deficiency for adults with up to 2 years of olipudase alfa treatment: open-label extension of the ASCEND trial

Author

Wasserstein, Melissa P., Lachmann, Robin, Hollak, Carla, Barbato, Antonio, Gallagher, Renata C., Giugliani, Roberto, Guelbert, Norberto Bernardo, Hennermann, Julia B., Ikezoe, Takayuki, Lidove, Olivier, Mabe, Paulina, Mengel, Eugen, Scarpa, Maurizio, Senates, Ebubekir, Tchan, Michel, Villarrubia, Jesus, Thurberg, Beth L., Yarramaneni, Abhimanyu, Armstrong, Nicole M., Kim, Yong, and Kumar, Monica

Published
2023
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4. Improvements in liver and lipid outcomes continue in children and adults with chronic acid sphingomyelinase deficiency treated for 2 to 6.5 years with olipudase alfa in long-term clinical trials

Author

Lachmann, Robin, primary, Ganesh, Jaya, additional, Giugliani, Roberto, additional, Guffon, Nathalie, additional, Mengel, Eugen, additional, Scarpa, Maurizio, additional, Wasserstein, Melissa, additional, Aguiar, Mario, additional, Armstrong, Nicole, additional, Thurberg, Beth L., additional, and Kumar, Monica, additional

Published
2024
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5. CRISPR/Cas9 generated knockout mice lacking phenylalanine hydroxylase protein as a novel preclinical model for human phenylketonuria

Author

Singh, Kuldeep, Cornell, Cathleen S., Jackson, Robert, Kabiri, Mostafa, Phipps, Michael, Desai, Mitul, Fogle, Robert, Ying, Xiaoyou, Anarat-Cappillino, Gulbenk, Geller, Sarah, Johnson, Jennifer, Roberts, Errin, Malley, Katie, Devlin, Tim, DeRiso, Matthew, Berthelette, Patricia, Zhang, Yao V., Ryan, Susan, Rao, Srinivas, Thurberg, Beth L., Bangari, Dinesh S., and Kyostio-Moore, Sirkka

Published
2021
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7. Characterization of Early Disease Status in Treatment-Naive Male Paediatric Patients with Fabry Disease Enrolled in a Randomized Clinical Trial

Author

Wijburg, Frits A, Bénichou, Bernard, Bichet, Daniel G, Clarke, Lorne A, Dostalova, Gabriela, Fainboim, Alejandro, Fellgiebel, Andreas, Forcelini, Cassiano, Haack, Kristina An, Hopkin, Robert J, Mauer, Michael, Najafian, Behzad, Scott, C Ronald, Shankar, Suma P, Thurberg, Beth L, Tøndel, Camilla, Tylki-Szymańska, Anna, and Ramaswami, Uma

Subjects
Biomedical and Clinical Sciences, Clinical Sciences, Kidney Disease, Rare Diseases, Clinical Research, Prevention, Pediatric, Clinical Trials and Supportive Activities, 6.1 Pharmaceuticals, Evaluation of treatments and therapeutic interventions, Renal and urogenital, Adolescent, Biopsy, Brain, Child, Child, Preschool, Demography, Endothelium, Vascular, Fabry Disease, Genotype, Glomerular Filtration Rate, Glycolipids, Humans, Iohexol, Kidney, Male, Mutation, Quality of Life, Skin, Sphingolipids, Trihexosylceramides, General Science & Technology
Abstract

Trial designThis analysis characterizes the degree of early organ involvement in a cohort of oligo-symptomatic untreated young patients with Fabry disease enrolled in an ongoing randomized, open-label, parallel-group, phase 3B clinical trial.MethodsMales aged 5-18 years with complete α-galactosidase A deficiency, without symptoms of major organ damage, were enrolled in a phase 3B trial evaluating two doses of agalsidase beta. Baseline disease characteristics of 31 eligible patients (median age 12 years) were studied, including cellular globotriaosylceramide (GL-3) accumulation in skin (n = 31) and kidney biopsy (n = 6; median age 15 years; range 13-17 years), renal function, and glycolipid levels (plasma, urine).ResultsPlasma and urinary GL-3 levels were abnormal in 25 of 30 and 31 of 31 patients, respectively. Plasma lyso-GL-3 was elevated in all patients. GL-3 accumulation was documented in superficial skin capillary endothelial cells (23/31 patients) and deep vessel endothelial cells (23/29 patients). The mean glomerular filtration rate (GFR), measured by plasma disappearance of iohexol, was 118.1 mL/min/1.73 m(2) (range 90.4-161.0 mL/min/1.73 m(2)) and the median urinary albumin/creatinine ratio was 10 mg/g (range 4.0-27.0 mg/g). On electron microscopy, renal biopsy revealed GL-3 accumulation in all glomerular cell types (podocytes and parietal, endothelial, and mesangial cells), as well as in peritubular capillary and non-capillary endothelial, interstitial, vascular smooth muscle, and distal tubules/collecting duct cells. Lesions indicative of early Fabry arteriopathy and segmental effacement of podocyte foot processes were found in all 6 patients.ConclusionsThese data reveal that in this small cohort of children with Fabry disease, histological evidence of GL-3 accumulation, and cellular and vascular injury are present in renal tissues at very early stages of the disease, and are noted before onset of microalbuminuria and development of clinically significant renal events (e.g. reduced GFR). These data give additional support to the consideration of early initiation of enzyme replacement therapy, potentially improving long-term outcome.Trial registrationClinicalTrials.gov NCT00701415.

Published
2015

8. Stifle Joint

Author

Johnson, Jennifer, primary, DelGiudice, Brian, additional, Bangari, Dinesh S., additional, Peterson, Eleanor, additional, Ulinski, Gregory, additional, Ryan, Susan, additional, and Thurberg, Beth L., additional

Published
2019
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9. Eyes

Author

Johnson, Jennifer, primary, DelGiudice, Brian, additional, Bangari, Dinesh S., additional, Peterson, Eleanor, additional, Ulinski, Gregory, additional, Ryan, Susan, additional, and Thurberg, Beth L., additional

Published
2019
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10. Urinary Bladder

Author

Johnson, Jennifer, primary, DelGiudice, Brian, additional, Bangari, Dinesh S., additional, Peterson, Eleanor, additional, Ulinski, Gregory, additional, Ryan, Susan, additional, and Thurberg, Beth L., additional

Published
2019
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11. Salivary Glands

Author

Johnson, Jennifer, primary, DelGiudice, Brian, additional, Bangari, Dinesh S., additional, Peterson, Eleanor, additional, Ulinski, Gregory, additional, Ryan, Susan, additional, and Thurberg, Beth L., additional

Published
2019
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12. The Laboratory Mouse

Author

Johnson, Jennifer, primary, DelGiudice, Brian, additional, Bangari, Dinesh S., additional, Peterson, Eleanor, additional, Ulinski, Gregory, additional, Ryan, Susan, additional, and Thurberg, Beth L., additional

Published
2019
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13. Skin with (or without) Mammary Gland

Author

Johnson, Jennifer, primary, DelGiudice, Brian, additional, Bangari, Dinesh S., additional, Peterson, Eleanor, additional, Ulinski, Gregory, additional, Ryan, Susan, additional, and Thurberg, Beth L., additional

Published
2019
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14. Spine (Continued)

Author

Johnson, Jennifer, primary, DelGiudice, Brian, additional, Bangari, Dinesh S., additional, Peterson, Eleanor, additional, Ulinski, Gregory, additional, Ryan, Susan, additional, and Thurberg, Beth L., additional

Published
2019
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15. Large Intestine - Rectum

Author

Johnson, Jennifer, primary, DelGiudice, Brian, additional, Bangari, Dinesh S., additional, Peterson, Eleanor, additional, Ulinski, Gregory, additional, Ryan, Susan, additional, and Thurberg, Beth L., additional

Published
2019
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16. Stomach - Open Method

Author

Johnson, Jennifer, primary, DelGiudice, Brian, additional, Bangari, Dinesh S., additional, Peterson, Eleanor, additional, Ulinski, Gregory, additional, Ryan, Susan, additional, and Thurberg, Beth L., additional

Published
2019
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17. Brain

Author

Johnson, Jennifer, primary, DelGiudice, Brian, additional, Bangari, Dinesh S., additional, Peterson, Eleanor, additional, Ulinski, Gregory, additional, Ryan, Susan, additional, and Thurberg, Beth L., additional

Published
2019
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18. Materials and Methods

Author

Johnson, Jennifer, primary, DelGiudice, Brian, additional, Bangari, Dinesh S., additional, Peterson, Eleanor, additional, Ulinski, Gregory, additional, Ryan, Susan, additional, and Thurberg, Beth L., additional

Published
2019
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19. Male - Preputial Gland

Author

Johnson, Jennifer, primary, DelGiudice, Brian, additional, Bangari, Dinesh S., additional, Peterson, Eleanor, additional, Ulinski, Gregory, additional, Ryan, Susan, additional, and Thurberg, Beth L., additional

Published
2019
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21. Small Intestine - Jejunum

Author

Johnson, Jennifer, primary, DelGiudice, Brian, additional, Bangari, Dinesh S., additional, Peterson, Eleanor, additional, Ulinski, Gregory, additional, Ryan, Susan, additional, and Thurberg, Beth L., additional

Published
2019
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22. Heart

Author

Johnson, Jennifer, primary, DelGiudice, Brian, additional, Bangari, Dinesh S., additional, Peterson, Eleanor, additional, Ulinski, Gregory, additional, Ryan, Susan, additional, and Thurberg, Beth L., additional

Published
2019
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23. Tongue

Author

Johnson, Jennifer, primary, DelGiudice, Brian, additional, Bangari, Dinesh S., additional, Peterson, Eleanor, additional, Ulinski, Gregory, additional, Ryan, Susan, additional, and Thurberg, Beth L., additional

Published
2019
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24. Spleen

Author

Johnson, Jennifer, primary, DelGiudice, Brian, additional, Bangari, Dinesh S., additional, Peterson, Eleanor, additional, Ulinski, Gregory, additional, Ryan, Susan, additional, and Thurberg, Beth L., additional

Published
2019
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25. Sciatic Nerve

Author

Johnson, Jennifer, primary, DelGiudice, Brian, additional, Bangari, Dinesh S., additional, Peterson, Eleanor, additional, Ulinski, Gregory, additional, Ryan, Susan, additional, and Thurberg, Beth L., additional

Published
2019
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26. Male - Epididymis

Author

Johnson, Jennifer, primary, DelGiudice, Brian, additional, Bangari, Dinesh S., additional, Peterson, Eleanor, additional, Ulinski, Gregory, additional, Ryan, Susan, additional, and Thurberg, Beth L., additional

Published
2019
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27. Small Intestine - Duodenum

Author

Johnson, Jennifer, primary, DelGiudice, Brian, additional, Bangari, Dinesh S., additional, Peterson, Eleanor, additional, Ulinski, Gregory, additional, Ryan, Susan, additional, and Thurberg, Beth L., additional

Published
2019
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28. Large Intestine - Cecum

Author

Johnson, Jennifer, primary, DelGiudice, Brian, additional, Bangari, Dinesh S., additional, Peterson, Eleanor, additional, Ulinski, Gregory, additional, Ryan, Susan, additional, and Thurberg, Beth L., additional

Published
2019
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29. Small Intestine - Ileum

Author

Johnson, Jennifer, primary, DelGiudice, Brian, additional, Bangari, Dinesh S., additional, Peterson, Eleanor, additional, Ulinski, Gregory, additional, Ryan, Susan, additional, and Thurberg, Beth L., additional

Published
2019
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30. Stomach - Whole Method

Author

Johnson, Jennifer, primary, DelGiudice, Brian, additional, Bangari, Dinesh S., additional, Peterson, Eleanor, additional, Ulinski, Gregory, additional, Ryan, Susan, additional, and Thurberg, Beth L., additional

Published
2019
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31. Diaphragm

Author

Johnson, Jennifer, primary, DelGiudice, Brian, additional, Bangari, Dinesh S., additional, Peterson, Eleanor, additional, Ulinski, Gregory, additional, Ryan, Susan, additional, and Thurberg, Beth L., additional

Published
2019
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32. Lymph Nodes - Axillary

Author

Johnson, Jennifer, primary, DelGiudice, Brian, additional, Bangari, Dinesh S., additional, Peterson, Eleanor, additional, Ulinski, Gregory, additional, Ryan, Susan, additional, and Thurberg, Beth L., additional

Published
2019
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33. Pancreas

Author

Johnson, Jennifer, primary, DelGiudice, Brian, additional, Bangari, Dinesh S., additional, Peterson, Eleanor, additional, Ulinski, Gregory, additional, Ryan, Susan, additional, and Thurberg, Beth L., additional

Published
2019
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34. Male - Testes

Author

Johnson, Jennifer, primary, DelGiudice, Brian, additional, Bangari, Dinesh S., additional, Peterson, Eleanor, additional, Ulinski, Gregory, additional, Ryan, Susan, additional, and Thurberg, Beth L., additional

Published
2019
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36. Intestines

Author

Johnson, Jennifer, primary, DelGiudice, Brian, additional, Bangari, Dinesh S., additional, Peterson, Eleanor, additional, Ulinski, Gregory, additional, Ryan, Susan, additional, and Thurberg, Beth L., additional

Published
2019
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37. Pituitary Gland

Author

Johnson, Jennifer, primary, DelGiudice, Brian, additional, Bangari, Dinesh S., additional, Peterson, Eleanor, additional, Ulinski, Gregory, additional, Ryan, Susan, additional, and Thurberg, Beth L., additional

Published
2019
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38. Liver and Gallbladder

Author

Johnson, Jennifer, primary, DelGiudice, Brian, additional, Bangari, Dinesh S., additional, Peterson, Eleanor, additional, Ulinski, Gregory, additional, Ryan, Susan, additional, and Thurberg, Beth L., additional

Published
2019
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39. Brain - Trimming for Sagittal Sections

Author

Johnson, Jennifer, primary, DelGiudice, Brian, additional, Bangari, Dinesh S., additional, Peterson, Eleanor, additional, Ulinski, Gregory, additional, Ryan, Susan, additional, and Thurberg, Beth L., additional

Published
2019
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40. Kidneys

Author

Johnson, Jennifer, primary, DelGiudice, Brian, additional, Bangari, Dinesh S., additional, Peterson, Eleanor, additional, Ulinski, Gregory, additional, Ryan, Susan, additional, and Thurberg, Beth L., additional

Published
2019
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41. Brain - Trimming for Coronal Sections

Author

Johnson, Jennifer, primary, DelGiudice, Brian, additional, Bangari, Dinesh S., additional, Peterson, Eleanor, additional, Ulinski, Gregory, additional, Ryan, Susan, additional, and Thurberg, Beth L., additional

Published
2019
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42. Esophagus, Trachea and Thyroid

Author

Johnson, Jennifer, primary, DelGiudice, Brian, additional, Bangari, Dinesh S., additional, Peterson, Eleanor, additional, Ulinski, Gregory, additional, Ryan, Susan, additional, and Thurberg, Beth L., additional

Published
2019
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43. Lung (Inflated)

Author

Johnson, Jennifer, primary, DelGiudice, Brian, additional, Bangari, Dinesh S., additional, Peterson, Eleanor, additional, Ulinski, Gregory, additional, Ryan, Susan, additional, and Thurberg, Beth L., additional

Published
2019
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44. Lymph Nodes - Mesenteric

Author

Johnson, Jennifer, primary, DelGiudice, Brian, additional, Bangari, Dinesh S., additional, Peterson, Eleanor, additional, Ulinski, Gregory, additional, Ryan, Susan, additional, and Thurberg, Beth L., additional

Published
2019
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45. Female - Ovaries, Oviducts (Fallopian Tubes)

Author

Johnson, Jennifer, primary, DelGiudice, Brian, additional, Bangari, Dinesh S., additional, Peterson, Eleanor, additional, Ulinski, Gregory, additional, Ryan, Susan, additional, and Thurberg, Beth L., additional

Published
2019
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46. Adrenal Glands

Author

Johnson, Jennifer, primary, DelGiudice, Brian, additional, Bangari, Dinesh S., additional, Peterson, Eleanor, additional, Ulinski, Gregory, additional, Ryan, Susan, additional, and Thurberg, Beth L., additional

Published
2019
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47. Quadriceps Muscle

Author

Johnson, Jennifer, primary, DelGiudice, Brian, additional, Bangari, Dinesh S., additional, Peterson, Eleanor, additional, Ulinski, Gregory, additional, Ryan, Susan, additional, and Thurberg, Beth L., additional

Published
2019
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48. Femur

Author

Johnson, Jennifer, primary, DelGiudice, Brian, additional, Bangari, Dinesh S., additional, Peterson, Eleanor, additional, Ulinski, Gregory, additional, Ryan, Susan, additional, and Thurberg, Beth L., additional

Published
2019
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49. Data from Endosialin Protein Expression and Therapeutic Target Potential in Human Solid Tumors: Sarcoma versus Carcinoma

Author

Rouleau, Cecile, primary, Curiel, Maritza, primary, Weber, William, primary, Smale, Robert, primary, Kurtzberg, Leslie, primary, Mascarello, James, primary, Berger, Carol, primary, Wallar, Gina, primary, Bagley, Rebecca, primary, Honma, Nakayuki, primary, Hasegawa, Kazumasa, primary, Ishida, Isao, primary, Kataoka, Shiro, primary, Thurberg, Beth L., primary, Mehraein, Khodadad, primary, Horten, Bruce, primary, Miller, Glenn, primary, and Teicher, Beverly A., primary

Published
2023
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50. Supplementary Data from Endosialin Protein Expression and Therapeutic Target Potential in Human Solid Tumors: Sarcoma versus Carcinoma

Author

Rouleau, Cecile, primary, Curiel, Maritza, primary, Weber, William, primary, Smale, Robert, primary, Kurtzberg, Leslie, primary, Mascarello, James, primary, Berger, Carol, primary, Wallar, Gina, primary, Bagley, Rebecca, primary, Honma, Nakayuki, primary, Hasegawa, Kazumasa, primary, Ishida, Isao, primary, Kataoka, Shiro, primary, Thurberg, Beth L., primary, Mehraein, Khodadad, primary, Horten, Bruce, primary, Miller, Glenn, primary, and Teicher, Beverly A., primary

Published
2023
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