Diagnosis and Management of Metabolic Bone Diseases: 2nd Edition
A special issue of Diagnostics (ISSN 2075-4418). This special issue belongs to the section "Pathology and Molecular Diagnostics".
Deadline for manuscript submissions: 28 February 2025 | Viewed by 15
Special Issue Editors
Interests: inborn errors of metabolism (IEM); lysosomal storage disorders (LSDs); congenital disorders of glycosylation (CDG); liver monogenic diseases; next-generation sequencing (NGS)
Special Issues, Collections and Topics in MDPI journals
Interests: inborn errors of metabolism (IEM); lysosomal storage disorders (LSD)
Special Issues, Collections and Topics in MDPI journals
Special Issue Information
Dear Colleagues,
Diagnostics is launching a Special Issue focused on bone disorders in inborn errors of metabolism (inherited metabolic diseases).
In the group of inherited metabolic diseases, there are some diseases primarily affecting bones and presenting with prominent skeletal features, such as lysosomal storage diseases (i.e., mucopolysaccharidoses) or hypophosphatemic rickets, while in others, some alterations, such as decreased bone mass, may be secondary to nutritional deficiencies because of strict diets, inflammatory processes, or drugs, including anti-epileptic treatment.
The interest in rare diseases, especially inherited metabolic diseases, has increased significantly in recent decades. Sensitive, high-throughput diagnostic methods, along with new therapies, have appeared. This topic has become a center of interest for scientists, biochemists, geneticists, and, above all, pediatricians.
On behalf of the Editorial Office, I would like to invite you to contribute your research paper, review article, interesting case reports, and descriptions of the utility of various diagnostic and therapeutic methods for bone involvement in inherited metabolic diseases for peer review and possible publication.
Young researchers are welcome to present their achievements, and pediatricians are welcome to share their experience and insights from their clinical practice. All are invited to present newly identified bone metabolic disorders identified by next-generation sequencing. We encourage researchers to describe the advantages of new diagnostic methods as well as the pitfalls of common diagnostic methods. Also, reports of long-term follow-up of patients with inherited bone metabolic disorders, as well as their management and care ensured by multidisciplinary teams of physicians and other health providers, will be appreciated.
Dr. Patryk Lipiński
Prof. Dr. Anna Tylki-Szymańska
Guest Editors
Manuscript Submission Information
Manuscripts should be submitted online at mdpi.longhoe.net by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.
Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Diagnostics is an international peer-reviewed open access semimonthly journal published by MDPI.
Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 2600 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.
Keywords
- inborn errors of metabolism
- inherited metabolic diseases
- bone metabolism/health
- short stature
- skeletal
- disturbances in calcium and phosphorus metabolism
- hypophosphatemic rickets
- hypophosphatasia
