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| Content Provider | Springer Nature : BioMed Central |
|---|---|
| Author | Lenzini, Livia Bianconi, Sara Gugelmo, Giorgia Gragnaniello, Vincenza Messerotti Benvenuti, Simone Fadini, Gian Paolo Vitturi, Nicola |
| Abstract | Inherited metabolic disorders (IMDs) are heritable conditions that affect up to 125:100,000 people worldwide. In addition to severe disabling forms that require continuous and costly assistance in both pediatric and adult patients, some IMDs can have mild forms, with the first clinical signs starting in adolescence or very late in adulthood. In the complex field of IMDs, featuring multifaceted challenges that span from scientific discoveries to patient care, women play a central role in contributing to clinical practice, research, patient advocacy, care, and education. In this narrative review, we focused on the involvement of women in the field of IMDs, highlighting not only their extensive contributions but also the undervaluation of the psychological and emotional tolls paid by women dealing with these diseases. Moreover, from a female-centered perspective, we explored the condition of an adult patient with an IMD to highlight the importance of changing the current approach to the clinical management of these diseases toward a more gender-focused approach. |
| Related Links | https://ojrd.biomedcentral.com/counter/pdf/10.1186/s13023-025-03604-8.pdf |
| Ending Page | 6 |
| Page Count | 6 |
| Starting Page | 1 |
| File Format | HTM / HTML |
| ISSN | 17501172 |
| DOI | 10.1186/s13023-025-03604-8 |
| Journal | Orphanet Journal of Rare Diseases |
| Issue Number | 1 |
| Volume Number | 20 |
| Language | English |
| Publisher | BioMed Central |
| Publisher Date | 2025-03-05 |
| Access Restriction | Open |
| Subject Keyword | Medicine Public Health Pharmacology Toxicology Human Genetics Inherited metabolic disorders Gender-based medicine Care-giver Medicine/Public Health Pharmacology/Toxicology |
| Content Type | Text |
| Resource Type | Review |
| Subject | Pharmacology (medical) Genetics (clinical) |
| Journal Impact Factor | 3.4/2023 |
| 5-Year Journal Impact Factor | 3.9/2023 |
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