BethLThurbergMDPhD

PubMed

• Continued improvement in disease manifestations of acid sphingomyelinase deficiency for adults with up to 2 years of olipudase alfa treatment: open-label extension of ...
  Wasserstein, M., Lachmann, R., Hollak, C., Barbato, A., Gallagher, R., Giugliani, R., Guelbert, N., Hennermann, J., Ikezoe, T., Lidove, O., Mabe, P., Mengel, E., Scarp...> ;Orphanet Journal of Rare Diseases. 2023 Dec 2
• 9 citations
  Venglustat, an orally administered glucosylceramide synthase inhibitor: Assessment over 3 years in adult males with classic Fabry disease in an open-label phase 2 stud...
  Patrick B Deegan, Ozlem Goker-Alpan, Tarekegn Geberhiwot, Robert J Hopkin, Elena Lukina, Anna Tylki-Szymanska, Atef Zaher, Charlotte Sensinger, Sebastiaan J M Gaemers,...> ;Molecular Genetics and Metabolism. 2023 Feb 1
• 3 citations
  Clinical relevance of globotriaosylceramide accumulation in Fabry disease and the effect of agalsidase beta in affected tissues.
  Camilla Tøndel, Beth L Thurberg, Pronabesh DasMahapatra, Nicole Lyn, Manish Maski, Julie L Batista, Kelly George, Hiren Patel, Ali Hariri> ;Molecular Genetics and Metabolism. 2022 Dec 1
• 23 citations
  A randomized, placebo-controlled clinical trial evaluating olipudase alfa enzyme replacement therapy for chronic acid sphingomyelinase deficiency (ASMD) in adults: One...
  Melissa Wasserstein, Robin Lachmann, Carla Hollak, Laila Arash-Kaps, Antonio Barbato, Renata C Gallagher, Roberto Giugliani, Norberto Bernardo Guelbert, Takayuki Ikezo...> ;Genetics in Medicine. 2022 Jul 1
• 6 citations
  CRISPR/Cas9 generated knockout mice lacking phenylalanine hydroxylase protein as a novel preclinical model for human phenylketonuria.
  Kuldeep Singh, Cathleen S. Cornell, Robert B. Jackson, Mostafa Kabiri, Michael Phipps, Mitul Desai, Robert Fogle, Xiaoyou Ying, Gulbenk Anarat-Cappillino, Sarah Geller...> ;Scientific Reports. 2021 Mar 31
• 10 citations
  Autopsy pathology of infantile neurovisceral ASMD (Niemann-Pick Disease type A): Clinicopathologic correlations of a case report.
  Beth L. Thurberg> ;Molecular Genetics and Metabolism Reports. 2020 Jul 16
• 4 citations
  Peripheral Nerve Microscopic Changes Related to Study Procedures: Two Nonclinical Case Studies:
  Dinesh S. Bangari, Ingrid D. Pardo, Rani S. Sellers, Jennifer Johnson, Susan Ryan, Beth L. Thurberg> ;Toxicologic Pathology. 2020 Jan 1
• 12 citations
  Improved muscle function in a phase I/II clinical trial of albuterol in Pompe disease
  Dwight D. Koeberl, Laura E. Case, Ankit K. Desai, Edward C. Smith, Crista Walters, Sang-oh Han, Beth L. Thurberg, Sarah P. Young, Deeksha Bali, Priya S. Kishnani> ;Molecular Genetics and Metabolism. 2020 Feb 1
• 23 citations
  Low-dose agalsidase beta treatment in male pediatric patients with Fabry disease: A 5-year randomized controlled trial.
  Uma Ramaswami, Daniel G. Bichet, Lorne A. Clarke, Gabriela Dostálová, Alejandro Fainboim, Andreas Fellgiebel, Cassiano Mateus Forcelini, Kristina An Haack, Robert J. H...> ;Molecular Genetics and Metabolism. 2019 Apr 3
• 50 citations
  Safety, tolerability, pharmacokinetics, pharmacodynamics, and exploratory efficacy of the novel enzyme replacement therapy avalglucosidase alfa (neoGAA) in treatment-n...
  Loren D.M. Pena, Richard J. Barohn, Barry J. Byrne, Claude Desnuelle, Ozlem Goker-Alpan, Shafeeq Ladha, Pascal Laforêt, Karl Eugen Mengel, Alan Pestronk, Jean Pouget, ...> ;Neuromuscular Disorders. 2019 Mar 1
• 24 citations
  Long-term efficacy of olipudase alfa in adults with acid sphingomyelinase deficiency (ASMD): Further clearance of hepatic sphingomyelin is associated with additional i...
  Beth L. Thurberg, George A. Diaz, Robin H. Lachmann, Thomas D. Schiano, Melissa P. Wasserstein, Allena J. Ji, Atef Zaher, M. Judith Peterschmitt> ;Molecular Genetics and Metabolism. 2019 Oct 4
• 20 citations
  Correction of Biochemical Abnormalities and Improved Muscle Function in a Phase I/II Clinical Trial of Clenbuterol in Pompe Disease
  Dwight D. Koeberl, Laura E. Case, Edward C. Smith, Crista Walters, Sang-oh Han, Yanzhen Li, Wei Chen, Christoph P. Hornik, Kim M. Huffman, William E. Kraus, Beth L. Th...> ;Molecular Therapy. 2018 Sep 5
• 5 citations
  Fabry disease: Four case reports of meningioma and a review of the literature on other malignancies
  Beth L. Thurberg, Dominique P. Germain, Fernando Perretta, Iulia E. Jurca-Simina, Juan Politei> ;Molecular Genetics and Metabolism Reports. 2017 Jun 1
• 16 citations
  Chronic intestinal pseudo-obstruction. Did you search for lysosomal storage diseases?
  Juan Politei, Consuelo Durand, Andrea Schenone, A. Torres, J. Mukdsi, Beth L. Thurberg> ;Molecular Genetics and Metabolism Reports. 2017 Mar 25
• 74 citations
  Monitoring the 3-year efficacy of enzyme replacement therapy in fabry disease by repeated skin biopsies.
  Beth L. Thurberg, H. Randolph Byers, Scott R. Granter, Robert G. Phelps, Ronald E. Gordon, Michael O'Callaghan> ;The Journal of Investigative Dermatology. 2004 Apr 1
• 11 citations
  Systemic Correction of Murine Glycogen Storage Disease Type IV by an AAV-Mediated Gene Therapy.
  Haiqing Yi, Quan Zhang, Elizabeth D. Brooks, Chunyu Yang, Beth L. Thurberg, Priya S. Kishnani, Baodong Sun> ;Human Gene Therapy. 2017 Mar 1
• 16 citations
  Clearance of Hepatic Sphingomyelin by Olipudase Alfa Is Associated With Improvement in Lipid Profiles in Acid Sphingomyelinase Deficiency.
  Beth L. Thurberg, Melissa P. Wasserstein, Simon Jones, Thomas D. Schiano, Gerald F. Cox, Ana Cristina Puga> ;The American Journal of Surgical Pathology. 2016 Sep 1
• 41 citations
  Prospective exploratory muscle biopsy, imaging, and functional assessment in patients with late-onset Pompe disease treated with alglucosidase alfa: The EMBASSY Study
  Ans T. van der Ploeg, Pierre G. Carlier, Robert Carlier, John T. Kissel, Benedikt Schoser, Stephan Wenninger, Alan Pestronk, Richard J. Barohn, Mazen M. Dimachkie, Ozl...> ;Molecular Genetics and Metabolism. 2016 Sep 1
• 12 citations
  Natural Progression of Canine Glycogen Storage Disease Type IIIa.
  Elizabeth D. Brooks, Haiqing Yi, Stephanie Austin, Beth L. Thurberg, Sarah P. Young, John C. Fyfe, Priya S. Kishnani, Baodong Sun> ;Comparative Medicine. 2016 Feb 1
• 46 citations
  Novel first-dose adverse drug reactions during a phase I trial of olipudase alfa (recombinant human acid sphingomyelinase) in adults with Niemann–Pick disease type B (...
  Margaret M. McGovern, Melissa P. Wasserstein, Brian Kirmse, W. Lane Duvall, Thomas D. Schiano, Beth L. Thurberg, Susan M. Richards, Gerald F. Cox> ;Genetics in Medicine. 2016 Jan 1
• 36 citations
  Gastrointestinal involvement in Fabry disease. So important, yet often neglected
  Juan Politei, Beth L. Thurberg, Eric Wallace, David G. Warnock, G. Serebrinsky, Consuelo Durand, Andrea Schenone> ;Clinical Genetics. 2016 Jan 1
• 62 citations
  Successful within-patient dose escalation of olipudase alfa in acid sphingomyelinase deficiency☆
  Melissa P. Wasserstein, Simon Jones, George A. Diaz, Natalie Lippa, Beth L. Thurberg, Kerry Culm-Merdek, Eli Shamiyeh, Haig Inguilizian, Gerald F. Cox, Ana Cristina Pu...> ;Molecular Genetics and Metabolism. 2015 Sep 1
• 33 citations
  Characterization of early disease status in treatment-naive male paediatric patients with Fabry disease enrolled in a randomized clinical trial.
  Frits A. Wijburg, Bernard Bénichou, Daniel G. Bichet, Lorne A. Clarke, Gabriela Dostálová, Alejandro Fainboim, Andreas Fellgiebel, Cassiano Mateus Forcelini, Kristina ...> ;Plos One. 2015 May 8
• 30 citations
  α-Galactosidase A Knockout Mice: Progressive Organ Pathology Resembles the Type 2 Later-Onset Phenotype of Fabry Disease
  Dinesh S. Bangari, Karen M. Ashe, Robert J. Desnick, Colleen Maloney, John Lydon, Peter A. Piepenhagen, Eva Budman, John P. Leonard, Seng H. Cheng, John Marshall, Beth...> ;The American Journal of Pathology. 2015 Mar 1
• 36 citations
  Nonclinical safety assessment of recombinant human acid sphingomyelinase (rhASM) for the treatment of acid sphingomyelinase deficiency:the utility of animal models of ...
  James M. Murray, Anne Marie Thompson, Allison Vitsky, Michael L. Hawes, Wei-Lien Chuang, Joshua Pacheco, Stephen Wilson, John M. McPherson, Beth L. Thurberg, Kenneth P...> ;Molecular Genetics and Metabolism. 2015 Feb 1
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