Rare Diseases

Current bibliography for experts

"Fgf23" search results...

XLH

A Unique Mechanism of a Novel Synonymous PHEX Variant Causing X-Linked Hypophosphatemia

2022-09-28

This article presents a family with X-linked hypophosphatemia (XLH) due to a novel synonymous PHEX variant with a unique mechanism.

PHEX

Genetic and clinical profile of patients with hypophosphatemic rickets

2022-08-01

This study proposes a customized gene panel for targeted exome sequencing, which will be useful for confirming the diagnosis in most patients with hypophosphatemic rickets.

XLH

Function of PHEX mutations p.Glu145* and p.Trp749Arg in families with X-linked hypophosphatemic rickets by the negative regulation mechanism on FGF23 promoter transcription

2022-06-02

This study verified the pathogenicity of the two variants and revealed the possible regulatory mechanism between PHEX and FGF23.

XLH

Genetic analysis combined with 3D-printing assistant surgery in diagnosis and treatment for an X-linked hypophosphatemia patient

2022-03-01

This study identifies a novel PHEX variant and shows that 3D printing tech is a very promising approach for corrective osteotomies.

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.

XLH

Clinical guidelines for burosumab in the treatment of XLH in children and adolescents: British paediatric and adolescent bone group recommendations

2020-10-01

Burosumab, a recombinant human IgG1 monoclonal antibody, has been shown to improve phosphate homeostasis, which resolves the skeletal and non-skeletal manifestations of X-linked hypophosphataemia (XLH), in clinical trials (phases 2 and 3).

XLH

Diagnosis, treatment-monitoring and follow-up of children and adolescents with X-linked hypophosphatemia (XLH)

2020-02-10

Diagnostic criteria of XLH and the principles of disease management with conventional treatment or with burosumab are reviewed in this paper.

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