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ba0007p79 | (1) | ICCBH2019

Novel imaging approaches to the quantification of musculoskeletal alterations in X-linked hypophosphatemic rickets (XLH)

Raimann Adalbert , Mehany Sarah N , Feil Patricia , Weber Michael , Boni-Mikats Andrea , Klepochova Radka , Krssak Martin , Pietschmann Peter , Haeusler Gabriele , Schneider Johannes , Raum Kay , Patsch Janina

Objectives: X-linked hypophosphatemia (XLH) is a rare genetic disorder of phosphate metabolism caused by mutations in the PHEX gene. This pilot study aims to apply novel imaging techniques to asses the musculoskeletal phenotype of XLH patients by bidirectional axial transmission (BDAT) ultrasound, magnetic resonance spectroscopy (MRS) and high resolution peripheral quantitative computed tomography (HR-pQCT).Methods: BDAT bone ultrasound of the radius and...

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ba0001pp454 | Other diseases of bone and mineral metabolism | ECTS2013

Long bone fragility in NF1 is due to deficiency of architecture, micro-structure and matrix mineralization

Kuhnisch Jirko , Seto Jong , Lange Claudia , Schrof Susanne , Stumpp Sabine , Kobus Karolina , Grohmann Julia , Kossler Nadine , Varga Peter , Osswald Monika , Tinschert Sigrid , Seifert Wenke , el Khassawna Thaqif , Stevenson David , Elefteriou Florent , Kornak Uwe , Raum Kay , Fratzl Peter , Kolanczyk Mateusz , Mundlos Stefan

Neurofibromatosis type I (NF1) is a monogenetic disorder caused by mutations in the NF1 gene encoding for the Ras-GAP protein neurofibromin. Apart from benign tumour development NF1 is frequently associated with skeletal manifestations such as osteopenia or debilitating focal skeletal dysplasia. To assess a function of Nf1 in osteocytes we here apply a combinatorial approach of biophysical, histological and molecular techniques allowing differential analysis ...

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Bone Abstracts

Acoustic assessment of bone properties beyond bone mineral

Novel imaging approaches to the quantification of musculoskeletal alterations in X-linked hypophosphatemic rickets (XLH)

Long bone fragility in NF1 is due to deficiency of architecture, micro-structure and matrix mineralization

BiosciAbstracts