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IJSDR
INTERNATIONAL JOURNAL OF SCIENTIFIC DEVELOPMENT AND RESEARCH
International Peer Reviewed & Refereed Journals, Open Access Journal
ISSN Approved Journal No: 2455-2631 | Impact factor: 8.15 | ESTD Year: 2016
open access , Peer-reviewed, and Refereed Journals, Impact factor 8.15

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Volume 9 | Issue 3

Impact factor: 8.15

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Paper Title: The Fundamental Aspects of Hurler Syndrome
Authors Name: Akshata Sanjay Patil , Tejaswini Ravindra Thanekar , Rupali Vinay Khankari , Sneha Mangal Umale
Unique Id: IJSDR2211191
Published In: Volume 7 Issue 11, November-2022
Abstract: Abstract Hurler syndrome is a genetic condition characterized by an alpha-L-iduronidase (IUDA) enzyme deficiency. A severe physiological deformity is caused by the lysosomal storage disorder, which damages one or more acid hydrolases of glycosaminoglycan. While there are currently available therapies, including hematopoietic stem cell transplantation, enzyme replacement therapy, and gene therapy, children with Hurler syndrome initially appear normal at birth and developing the typical clinical manifestations including coarse facies, growth retardation, photophobia and visual impairment, crystalline keratopathy, retinal degeneration, and optic nerve swelling. Therefore, I have attempted to emphasise all the hurler syndrome's essentials in this article.
Keywords: Hurler syndrome, glycosaminoglycan, ERT, HSCT
Cite Article: "The Fundamental Aspects of Hurler Syndrome", International Journal of Science & Engineering Development Research (www.ijsdr.org), ISSN:2455-2631, Vol.7, Issue 11, page no.1273 - 1275, November-2022, Available :http://www.ijsdr.org/papers/IJSDR2211191.pdf
Downloads: 000336257
Publication Details: Published Paper ID: IJSDR2211191
Registration ID:202817
Published In: Volume 7 Issue 11, November-2022
DOI (Digital Object Identifier): http://doi.one/10.1729/Journal.32326
Page No: 1273 - 1275
Publisher: IJSDR | www.ijsdr.org
ISSN Number: 2455-2631

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