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ba0007p97 | (1) | ICCBH2019

Association of serum alkaline phosphatase with radiological rickets severity in children with X-linked hypophosphataemia on conventional therapy

Uday Suma , Shaw NJ , Mughal ZM , Randell Tabitha , Hogler Wolfgang , Santos Rui , Padidela Raja

Introduction: Conventional treatment of X-linked hypophosphataemic rickets (XLH) involves administration of oral phosphate and vitamin D analogues. An important treatment goal is to heal rickets which is assessed by normalisation of serum alkaline phosphatase (ALP) levels and resolution of radiological signs of rickets.Objectives: To determine the usefulness of serum ALP in assessing disease severity on wrist and knee radiographs as determined by rickets...

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ba0007p145 | (1) | ICCBH2019

Nine-month follow-up data on biochemical, clinical, radiological and functional parameters in a clinical cohort of children at Evelina London Children's Hospital with X-linked hypophosphataemia treated with Burosumab

Sandy Jessica L , Gilbey-Cross Robyn , Santos Rui , Sakka Sophia D , Cocca Alessandra , Morris Mavali , Cheung Moira S

Burosumab, a monoclonal antibody targeting fibroblast growth factor 23, is now available for clinical use in children with X-linked hypophosphatemia (XLH). We aimed to explore the effects of burosumab in children with XLH in a clinical setting, considering: a) Biochemistry b) Growth c) Lower limb deformity (LLD) d) Radiology e) Motor function<p class="abstext"...

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ba0006p203 | (1) | ICCBH2017

Neurofibromatosis type 1 (NF1) associated congenital pseudarthrosis of the Tibia and Fibula misdiagnosed as non-accidental injury (NAI)

Mughal M Zulf , Ali Farhan , Santos Rui , Vassallo Grace , West Siobhan , Howard Elizabeth , Eelloo Judith , Hupton Eileen , Rowles Elizabeth , Huson Susan M

Background: Congenital tibial pseudarthrosis (CTP) presents with anterolateral bowing of the lower leg in infancy, which often progresses to fracture and non-union (pseudarthrosis). CTP occurs in 23% of children with NF1. The distal end of the fibula and other long bones can also be affected.Objective: We describe three children in whom NF1 related congenital tibial or fibular pseudarthrosis was initially misdiagnosed as NAI....

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Bone Abstracts

Association of serum alkaline phosphatase with radiological rickets severity in children with X-linked hypophosphataemia on conventional therapy

Nine-month follow-up data on biochemical, clinical, radiological and functional parameters in a clinical cohort of children at Evelina London Children's Hospital with X-linked hypophosphataemia treated with Burosumab

Neurofibromatosis type 1 (NF1) associated congenital pseudarthrosis of the Tibia and Fibula misdiagnosed as non-accidental injury (NAI)

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