"Fracture" search results...

Regarding the incidence and consequences of musculoskeletal features in X-linked hypophosphatemia (XLH), all patients should be assessed by a bone disease specialist and, if necessary, managed by a multidisciplinary team.

GAUCHER

GRAF score: A composite risk score for assessing adult fracture risk in imiglucerase‑treated Gaucher disease type 1 patients

2021-02-18

The aim of this study was to create a risk score assessment GRAF as a clinical tool for determining risk for future fractures beyond standard risk factors that change with time and treatment in Gaucher disease type 1 patients. The GRAF score can be used to inform clinicians about the potential fracture risk after starting imiglucerase or other alternative ERTs.

XLH

Hiding in plain sight: Gene panel and genetic markers reveal 26-year undiagnosed tumor-induced osteomalacia of the rib

2020-12-24

This case study presents a 41-year-old female with FGF23-mediated hypophosphatemia, with a 26-year delay in TIO (tumor-induced osteomalacia) diagnosis and a concurrent misdiagnosis of X-linked hypophosphatemic rickets (XLH). The study emphasizes the importance of innovative methods for clinicians, such as gene panels, CISH, and RNA sequencing, in characterizing TIO and associated tumors in the form of many phenotypically similar diseases.

Rare Diseases

Current bibliography for experts

Rare Diseases

Current bibliography for experts

XLH

Adult rheumatologic features, treatment and complications of X-linked hypophosphatemia

GAUCHER

GRAF score: A composite risk score for assessing adult fracture risk in imiglucerase‑treated Gaucher disease type 1 patients

XLH

Hiding in plain sight: Gene panel and genetic markers reveal 26-year undiagnosed tumor-induced osteomalacia of the rib

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