Substrate reduction therapy with Miglustat in pediatric patients with GM1 type 2 gangliosidosis delays neurological involvement: A multicenter experience-Reference-Cited by-同舟云学术

Substrate reduction therapy with Miglustat in pediatric patients with GM1 type 2 gangliosidosis delays neurological involvement: A multicenter experience

Published:2020-08-11 Issue:10 Volume:8 Page:
ISSN:2324-9269
Container-title:Molecular Genetics & Genomic Medicine
language:en
Short-container-title:Mol Genet Genomic Med

Author:

Fischetto Rita¹,Palladino Valentina²^ORCID,Mancardi Maria M.³,Giacomini Thea³,Palladino Stefano⁴,Gaeta Alberto⁴,Di Rocco Maja⁵^ORCID,Zampini Lucia⁶,Lassandro Giuseppe²,Favia Vito¹,Tripaldi Maria E.²,Strisciuglio Pietro⁷,Romano Alfonso⁷,Severino Mariasavina⁸,Morrone Amelia⁹^ORCID,Giordano Paola²

Affiliation:

1. Clinical Genetics Unit Department of Pediatric Medicine Giovanni XXIII Children's Hospital Bari Italy

2. Department of Biomedical Science and Human Oncology Pediatric Unit University of Bari “Aldo Moro” Bari Italy

3. Unit of Child Neuropsychiatry, Clinical and Surgical Neurosciences Department IRCCS Institute Giannina Gaslini Genoa Italy

4. Radiology Unit Pediatric Hospital Giovanni XXIII Bari Italy

5. Unit of Rare Diseases IRCCS Institute Giannina Gaslini Genoa Italy

6. Department of Clinical Sciences Division of Pediatrics Polytechnic University of MarcheOspedaliRiunitiPresidio Salesi Ancona Italy

7. Department of Medical Translational Sciences Section of Pediatrics University Federico II Naples Napoli Italy

8. Neuroradiology Unit IRCCS Institute Giannina Gaslini Genoa Italy

9. Paediatric Neurology Unit and Laboratories Neuroscience Department Meyer Children's Hospital Florence Italy

Publisher

Wiley

Subject

Genetics (clinical),Genetics,Molecular Biology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.1371

Reference43 articles.

1. Miglustat (NB-DNJ) works as a chaperone for mutated acid β-glucosidase in cells transfected with several Gaucher disease mutations

2. AAV-Mediated Gene Delivery in Adult GM1-Gangliosidosis Mice Corrects Lysosomal Storage in CNS and Improves Survival

3. Gastrointestinal disturbances and their management in miglustat-treated patients

4. GM1 gangliosidosis: Review of clinical, molecular, and therapeutic aspects

5. Neuroimaging findings in late infantile GM1 gangliosidosis;Chen C. Y.;AJNR. American Journal of Neuroradiology,1998

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