GustavoHenrique BoffMaegawaMD,PhD

PubMed

• 3 citations
  Long-term safety and efficacy of pegunigalsidase alfa: A multicenter 6-year study in adult patients with Fabry disease.
  Derralynn Hughes, Derlis Gonzalez, Gustavo Maegawa, John A Bernat, Myrl Holida, Pilar Giraldo, Mohamed G Atta, Raul Chertkoff, Sari Alon, Einat Brill Almon, Rossana Ro...> ;Genetics in Medicine. 2023 Dec 1
• Integrating whole-genome sequencing and transcriptomic findings in the diagnosis and management of Coffin-Siris syndrome.
  Chenchen Wu, Gustavo H B Maegawa, Huiwen Zhang> ;Brain & Development. 2023 Oct 1
• USP8 inhibition regulates autophagy flux and controlsinfection.
  John Santelices, Mark Ou, Gustavo H B Maegawa, Kamil Hercik, Mariola J Edelmann> ;Frontiers in Cellular and Infection Microbiology. 2023 Jan 1
• 19 citations
  Antigen-encapsulating host extracellular vesicles derived from Salmonella-infected cells stimulate pathogen-specific Th1-type responses in vivo.
  Winnie W. Hui, Lisa E. Emerson, Beata Clapp, Austin E. F. Sheppe, Jatin Sharma, Johanna del Castillo, Mark S. Ou, Gustavo Maegawa, Carol Hoffman, Joseph Larkin, David ...> ;Plos Pathogens. 2021 May 6
• 12 citations
  Clinical, biochemical, and genotype-phenotype correlations of 118 patients with Niemann-Pick disease Types A/B
  Jiayue Hu, Gustavo Maegawa, Xia Zhan, Xiao-lan Gao, Yu Wang, Feng Xu, Wenjuan Qiu, Lianshu Han, Xuefan Gu, Huiwen Zhang> ;Human Mutation. 2021 Mar 6
• 37 citations
  MRI surveillance of boys with X-linked adrenoleukodystrophy identified by newborn screening: Meta-analysis and consensus guidelines.
  Eric J. Mallack, Bela R. Turk, Helena Yan, Carrie Price, Michelle Demetres, Ann B. Moser, Catherine Becker, Kim Hollandsworth, Laura Adang, Adeline Vanderver, Keith Va...> ;Journal of Inherited Metabolic Disease. 2021 Jan 9
• 2 citations
  Potential Disease-Modifying Effects of Lithium Carbonate in Niemann-Pick Disease, Type C1.
  Shiqian Han, Huiwen Zhang, Mengni Yi, Xiaoqing Liu, Gustavo Maegawa, Yunding Zou, Qijun Wang, Dianqing Wu, Zhijia Ye> ;Frontiers in Pharmacology. 2021 Jan 1
• 29 citations
  CNS-Targeting Therapies for Lysosomal Storage Diseases: Current Advances and Challenges.
  Mariola J. Edelmann, Gustavo Maegawa> ;Frontiers in Molecular Biosciences. 2020 Nov 12
• 21 citations
  Gaucher disease and SARS-CoV-2 infection: Emerging management challenges.
  Pramod K. Mistry, Manisha Balwani, Deborah Barbouth, T. Andrew Burrow, Edward I. Ginns, Ozlem Goker-Alpan, Gregory A. Grabowski, Reena V. Kartha, Priya S. Kishnani, He...> ;Molecular Genetics and Metabolism. 2020 Jul 1
• 1 citations
  Microphthalmia and linear skin defects syndrome: Precise diagnosis guides prognosis
  Kerrie G. Satcher, Gustavo Maegawa, Jennifer J. Schoch> ;Pediatric Dermatology. 2020 Jan 1
• 10 citations
  Ambroxol improves skeletal and hematological manifestations on a child with Gaucher disease
  Wenjun Jiang, Mengni Yi, Gustavo Maegawa, Huiwen Zhang> ;Journal of Human Genetics. 2020 Mar 1
• 69 citations
  Pegunigalsidase alfa, a novel PEGylated enzyme replacement therapy for Fabry disease, provides sustained plasma concentrations and favorable pharmacodynamics: A 1-year...
  Raphael Schiffmann, Ozlem Goker-Alpan, Myrl Holida, Pilar Giraldo, Laura Barisoni, Robert B. Colvin, Charles Jennette, Gustavo Maegawa, Simeon A. Boyadjiev, Derlis E. ...> ;Journal of Inherited Metabolic Disease. 2019 Apr 8
• 11 citations
  Lysosomal Leukodystrophies Lysosomal Storage Diseases Associated With White Matter Abnormalities
  Gustavo Maegawa> ;Journal of Child Neurology. 2019 Feb 13
• 38 citations
  KCTD7 deficiency defines a distinct neurodegenerative disorder with a conserved autophagy-lysosome defect
  Kyle Metz, Xinchen Teng, Isabelle Coppens, Heather M. Lamb, Bart E. Wagner, Jill A. Rosenfeld, Xianghui Chen, Yu Zhang, Hee Jong Kim, Michael E. Meadow, Timothy S. Wan...> ;Annals of Neurology. 2018 Nov 1
• 4 citations
  Serendipitous effects of β-cyclodextrin on murine model of Krabbe disease.
  Asaka Katabuchi, Vivian Godoy, Priya Shil, Ann B. Moser, Gustavo Maegawa> ;Molecular Genetics and Metabolism Reports. 2018 Mar 26
• 20 citations
  Long-term Outcome of 4 Patients With Transcobalamin Deficiency Caused by 2 Novel TCN2 Mutations.
  Marwan Nashabat, Gustavo Maegawa, Peter H. Nissen, Ebba Nexo, Hussain Al-Shamrani, Mohammed Al-Owain, Majid Alfadhel> ;Journal of Pediatric Hematology/oncology. 2017 Nov 1
• Premature Identical Twin Neonates With Sleep Apnea.
  Anirudh Ramesh, Johanna Diaz, Lawrence M. Nogee, Jessica Duis, Dae Song Jang, Cathleen Lawson, Gustavo Maegawa> ;Clinical Pediatrics. 2017 Mar 20
• 3 citations
  Cell-based high-throughput screening identifies galactocerebrosidase enhancers as potential small-molecule therapies for Krabbe's disease.
  Dae Song Jang, Wenjuan Ye, Tian Guimei, Melani Solomon, Noel Southall, Xin Hu, Juan J. Marugan, Marc Ferrer, Gustavo Maegawa> ;Journal of Neuroscience Research. 2016 Nov 1
• 78 citations
  Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia Due to Bi-allelic TANGO2 Mutations
  Seema R. Lalani, Pengfei Liu, Jill A. Rosenfeld, Levi B. Watkin, Theodore Chiang, Magalie S. Leduc, Wenmiao Zhu, Yan Ding, Shujuan Pan, Francesco Vetrini, Christina Y....> ;American Journal of Human Genetics. 2016 Feb 4
• 673 citations
  Guidelines for the use and interpretation of assays for monitoring autophagy (3rd edition).
  Vyas, J. M., Daniel J Klionsky, Kotb Abdelmohsen, Akihisa Abe, Md Joynal Abedin, Hagai Abeliovich, Abraham Acevedo Arozena, Hiroaki Adachi, Christopher M Adams, Peter ...> ;Autophagy. 2016 Jan 1
• 50 citations
  Erratum to: Guidelines for the use and interpretation of assays for monitoring autophagy (3rd edition) (Autophagy, 12, 1, 1-222, 10.1080/15548627.2015.1100356
  Daniel J. Klionsky, Kotb Abdelmohsen, Akihisa Abe, Joynal Abedin, Hagai Abeliovich, Abraham Acevedo Arozena, Hiroaki Adachi, Christopher M. Adams, Peter D. Adams, Khos...> ;Autophagy. 2016 Jan 1
• 24 citations
  Reduction of Plasma Globotriaosylsphingosine Levels After Switching from Agalsidase Alfa to Agalsidase Beta as Enzyme Replacement Therapy for Fabry Disease.
  Ozlem Goker-Alpan, Michael J. Gambello, Gustavo Maegawa, Khan Nedd, Daniel Gruskin, Larry Blankstein, Neal J. Weinreb> ;JIMD Reports. 2015 Aug 25
• 7 citations
  Clinical utility of neuronal cells directly converted from fibroblasts of patients for neuropsychiatric disorders: Studies of lysosomal storage diseases and channelopathy
  Shin Ichi Kano, Ming Yuan, Ross A. Cardarelli, Gustavo Maegawa, Norimichi Higurashi, Meriem Gaval-Cruz, Ashley M. Wilson, Carlos Tristan, Mari Kondo, Yian Chen, Minori...> ;Current Molecular Medicine. 2015 Jan 31
• 47 citations
  Early axonal loss accompanied by impaired endocytosis, abnormal axonal transport, and decreased microtubule stability occur in the model of Krabbe's disease
  Carla Teixeira, Catarina Oliveira Miranda, Vera Sousa, Telma Emanuela Santos, Ana R. Malheiro, Melani Solomon, Gustavo Maegawa, Pedro Brites, Mónica Mendes Sousa> ;Neurobiology of Disease. 2014 Jun 1
• 20 citations
  Mucopolysaccharidoses type I and II: New neuroimaging findings in the cerebellum
  Eman Alqahtani, Thierry A. G. M. Huisman, Eugen Boltshauser, Ianina Scheer, Tayfun Güngör, Aylin Tekes, Gustavo Maegawa, Andrea Poretti> ;European Journal of Paediatric Neurology. 2014 Mar 1
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