Case Study Stresses Importance of Early Diagnosis, Awareness

Case Study Stresses Importance of Early Diagnosis, Awareness

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Case Study Stresses Importance of Early Diagnosis, Awareness

The case of a woman diagnosed with X-linked hypophosphatemia (XLH) relatively late in life — after the condition had already taken a substantial toll on her physical health and quality of life — highlights the importance of early diagnosis and physician awareness about the disorder, researchers say. The case study, “X-linked hypophosphatemic osteomalacia with PHEX mutation presenting late in Pakistan,” was published in the Annals of Medicine and Surgery. XLH is one of nearly 400 types…

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