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4/27/2025 7:06:37 AM | Browse: 2 | Download: 0
Publication Name World Journal of Clinical Cases
Manuscript ID 103642
Country United States
Received
2024-11-26 10:51
Peer-Review Started
2024-11-26 10:51
To Make the First Decision
Return for Revision
2025-01-16 01:06
Revised
2025-01-28 22:24
Second Decision
2025-03-27 02:39
Accepted by Journal Editor-in-Chief
Accepted by Executive Editor-in-Chief
2025-03-27 08:36
Articles in Press
2025-03-27 08:36
Publication Fee Transferred
Edit the Manuscript by Language Editor
Typeset the Manuscript
2025-04-16 10:30
Publish the Manuscript Online
2025-04-27 07:06
ISSN 2307-8960 (online)
Open Access This article is an open-access article that was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution NonCommercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: https://creativecommons.org/Licenses/by-nc/4.0/
Copyright The Author(s) 2025. Published by Baishideng Publishing Group Inc. All rights reserved.
Article Reprints For details, please visit: http://www.wjgnet.com/bpg/gerinfo/247
Permissions For details, please visit: http://www.wjgnet.com/bpg/gerinfo/207
Publisher Baishideng Publishing Group Inc, 7041 Koll Center Parkway, Suite 160, Pleasanton, CA 94566, USA
Website http://www.wjgnet.com
Category Endocrinology & Metabolism
Manuscript Type Case Report
Article Title Hypophosphatasia: A case report
Manuscript Source Invited Manuscript
All Author List Angad Singh Gill, Pallavi Sharma, Mahmoud Nassar and Erlin Marte
ORCID
Author(s) ORCID Number
Mahmoud Nassar http://orcid.org/0000-0002-5401-9562
Funding Agency and Grant Number
Corresponding Author Mahmoud Nassar, MD, PhD, Postdoctoral Fellow, Department of Research, American Society for Inclusion, Diversity, and Equity in Healthcare, 705 Maple Road, Lewes, NY 19958, United States. nassarma@asidehealthcare.org
Key Words Hypophosphatasia; Tissue-nonspecific alkaline phosphatase; Osteopenia; Enzyme replacement therapy; Asfotase alfa; Low alkaline phosphatase levels; Vitamin B6 metabolism; Skeletal hypomineralization; Rare metabolic disorders; Adult-onset hypophosphatasia; Case report
Core Tip This case report highlights the importance of considering hypophosphatasia (HPP) in patients with unexplained bone pain and low alkaline phosphatase levels, especially in the presence of osteopenia or osteoporosis. It underscores the role of genetic testing and counseling in diagnosing and managing HPP, emphasizing early identification and treatment to improve patient outcomes. The report also illustrates how HPP can explain multiple symptoms often misdiagnosed as conditions like fibromyalgia. Additionally, it aims to raise awareness about enzyme replacement therapies that can significantly improve quality of life and reduce complications for HPP patients.
Publish Date 2025-04-27 07:06
Citation <p>Gill AS, Sharma P, Nassar M, Marte E. Hypophosphatasia: A case report. <i>World J Clin Cases</i> 2025; 13(21): 103642</p>
URL https://www.wjgnet.com/2307-8960/full/v13/i21/103642.htm
DOI https://dx.doi.org/10.12998/wjcc.v13.i21.103642
Full Article (PDF) WJCC-13-103642-with-cover.pdf
CARE Checklist–2016 103642-CARE-Checklist-2016.pdf
Manuscript File 103642_Auto_Edited_124609.docx
Answering Reviewers 103642-answering-reviewers.pdf
Audio Core Tip 103642-audio.mp3
Conflict-of-Interest Disclosure Form 103642-conflict-of-interest-statement.pdf
Copyright License Agreement 103642-copyright-assignment.pdf
Signed Consent for Treatment Form(s) or Document(s) 103642-informed-consent-statement.pdf
Peer-review Report 103642-peer-reviews.pdf
Scientific Misconduct Check 103642-scientific-misconduct-check.png
Scientific Editor Work List 103642-scientific-editor-work-list.pdf
CrossCheck Report 103642-crosscheck-report.pdf