Phenotypic and Genotypic Spectrum of Indian Patients with Hypophosphatasia
In the largest case series of hypophosphatasia from India, we report five cases of hypophosphatasia with two novel variants. Our study emphasizes the need to increase awareness regarding the disease to improve its early diagnosis and also, the need to form strategies to reduce the challenges in obtaining enzyme replacement therapy for hypophosphatasia in India.
Authors
- Hamsa V. Reddy
- Melkunte Shanthaiah Dhananjaya
- Anurag Lila (ORCID: https://orcid.org/0000-0002-9623-4471)
- Vijaya Sarathi (ORCID: https://orcid.org/0000-0002-0243-0448)
- Sandhya Nair
- Anusha Nadig
- Prajna Lalitha
- Shaila Bhattacharyya
- Swati Jadhav
- S. Thrupti
- Kenchappa S. Adarsh
Institutions
- King Edward Memorial Hospital and Seth G.S. Medical College (IN)
- CARE Hospitals (IN)
- M.S. Ramaiah Medical College (IN)
- Aster Medcity (IN)
- SciGenom Labs (India) (IN)
- Manipal Hospital (IN)
- Institute of Medical Sciences (IN)
Publication Details
- Journal
- Indian Journal of Endocrinology and Metabolism
- Published
- 2025-03-01
- DOI
- https://doi.org/10.4103/ijem.ijem_378_24
- Primary Topic
- Alkaline Phosphatase Research Studies
- Type
- article
- Field-Weighted Citation Impact
- 0.00