Search Results - "lysosomal storage disorders"

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  1. 61
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    Lysosomal Acid Lipase Deficiency: Report of Five Cases across the Age Spectrum by Marco Antonio Curiati, Sandra Obikawa Kyosen, Vanessa Gonçalves Pereira, Francy Reis da Silva Patrício, Ana Maria Martins

    Published 2018
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  2. 62
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    Enzymatic testing for mucopolysaccharidosis type I in Kuwaiti newborns: a preliminary study toward newborn screening by Hind Alsharhan, Hind Alsharhan, Hind Alsharhan, Mohammad Z. Haider, Bann Qadoura, Mariam Ayed, Gursev S. Dhaunsi, Hessa Alkandari

    Published 2024
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  3. 63
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    Mucopolysaccharidosis Type-II with Pathognomonic Skin Appearance: A Case with Pebbling Sign by Ayşe Hitay İnan, Berna Şeker Yılmaz, Fatma Derya Bulut, Sebile Kılavuz, Deniz Kor, Mehmet Karakaş, Halise Neslihan Önenli Mungan

    Published 2021
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  4. 64
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    Lessons Learned from Pompe Disease Newborn Screening and Follow-up by Tracy L. Klug, Lori B. Swartz, Jon Washburn, Candice Brannen, Jami L. Kiesling

    Published 2020
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  5. 65
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    Autologous Stem-Cell-Based Gene Therapy for Inherited Disorders: State of the Art and Perspectives by Frank J. T. Staal, Alessandro Aiuti, Alessandro Aiuti, Marina Cavazzana

    Published 2019
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  6. 66
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    Animal models for Gaucher disease research by Tamar Farfel-Becker, Einat B. Vitner, Anthony H. Futerman

    Published 2011
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  7. 67
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    Update on role of agalsidase alfa in management of Fabry disease by Uma Ramaswami

    Published 2011
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  8. 68
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    Migalastat Treatment in a Kidney-Transplanted Patient with Fabry Disease and N215S Mutation: The First Case Report by Valeria Di Stefano, Marta Mancarella, Antonia Camporeale, Anna Regalia, Marta Ferraresi, Marco Pisaniello, Elena Cassinerio, Federico Pieruzzi, Irene Motta

    Published 2021
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  9. 69
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    Nephropathic Cystinosis: Symptoms, Treatment, and Perspectives of a Systemic Disease by Sören Bäumner, Lutz T. Weber

    Published 2018
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  10. 70
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    Cardiac Murmur in a Boy with Normal Paternal Prenatal Carrier Screening for Pompe Disease by Allison M. Jay, Premchand Anne, David Stockton

    Published 2019
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  11. 71
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    La diagnosi precoce di malattia by Federica Rossi, Federico Pieruzzi

    Published 2019
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  12. 72
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    Fabry disease: An overlooked diagnosis in adult cardiac patients by Meral Kayıkçıoğlu, Evrim Şimşek, Sema Kalkan Uçar, Selen Bayraktaroğlu, Hüseyin Onay, Eser Sözmen, Mahmut Çoker

    Published 2017
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  13. 73
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    Genital angiokeratoma in a woman with Fabry disease: the dermatologist's role by Patricia Moraes Resende de Jesus, Ana Maria Martins, Nilton Di Chiacchio, Carolina Sanchez Aranda

    Published 2018
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  14. 74
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    Treatment of latent tuberculosis in a child with mucopolysaccharidosis type I receiving enzyme replacement therapy: A case report by Lauma Vasilevska, Madara Auzenbaha, Madara Auzenbaha, Ieva Grinfelde, Ieva Grinfelde, Anita Skangale

    Published 2022
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  15. 75
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    Profile of eliglustat tartrate in the management of Gaucher disease by Sechi A, Dardis A, Bembi B

    Published 2016
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  16. 76
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    Gaucher's Disease - current state of knowledge and future perspectives? by Katarzyna Szymańska, Julia Krasnoborska, Sylwia Samojedny, Maciej Superson, Katarzyna Szmyt, Kamil Walczak, Klaudia Wilk-Trytko, Łukasz Zarębski

    Published 2024
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  17. 77
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    Fabry disease: Mechanism and therapeutics strategies by Xi Li, Xiangyi Ren, Yabing Zhang, Lin Ding, Minfeng Huo, Qian Li

    Published 2022
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  18. 78
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    Alglucosidase alfa: Long term use in the treatment of patients with Pompe disease by Michael Beck

    Published 2009
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  19. 79
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    Cornea Verticillata in classical Fabry disease, first from Sri Lanka: a case report by Hasani Hewavitharana, Eresha Jasinge, Hiranya Abeysekera, Jithangi Wanigasinghe

    Published 2020
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  20. 80
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    Genetic dissection of a cell-autonomous neurodegenerative disorder: lessons learned from mouse models of Niemann-Pick disease type C by Manuel E. Lopez, Matthew P. Scott

    Published 2013
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