ArticleJournal of the ASEAN Federation of Endocrine Societies2020
Debilitating Pain and Fractures: a Rare Case of Hypophosphatemic Osteomalacia with Concomitant Vitamin D Deficiency in Neurofibromatosis Type 1.
Article in Journal of the ASEAN Federation of Endocrine Societies, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
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Who cites it
5 citing papers in PubMed.
- Bilateral Pathological Femoral Fractures Secondary to Long-Term Tenofovir Disoproxil Fumarate-Induced Osteomalacia in a Woman Living with HIV: A Case Report.International medical case reports journal · 2026Article
- Burden of disease and unmet needs associated with scoliosis in neurofibromatosis type 1: a systematic literature review.JBMR plus · 2025Article
- Comprehensive imaging analysis of a patient with neurofibromatosis type 1 combined with hypophosphatemic osteomalacia: a case description.Quantitative imaging in medicine and surgery · 2023Article
- Hypophosphatemic osteomalacia in neurofibromatosis 1 associated with intracranial gliomas and congenital renal agenesis: A rare case report and review of the literature.Journal of orthopaedic case reports · 2022Article
- Changes in Metabolic Parameters in Patients with Diabetic Kidney Disease Depending on the Status of D3.Reviews on recent clinical trials · 2022Review
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3 authors.
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Abstract
Hypophosphatemic osteomalacia is a rare form of metabolic bone disorder in neurofibromatosis type 1 (NF1). The exact disease mechanism of this disorder in NF1 is yet to be established. We present a 44-year-old female known to have NF1, who presents with debilitating bone pain, weakness and multiple fractures. Laboratory investigations showed persistent hypophosphatemia with renal phosphate wasting suggestive of hypophosphatemic osteomalacia. She also had concomitant vitamin D deficiency which contributed to the disease severity. Medical therapy with oral phosphate and vitamin D improved her symptoms without significant changes in fracture healing or phosphate levels.
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