Bone mineral density in MPS IV A (Morquio syndrome type A)
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- 作者：Heidi H. Kecskemethya ; b ; 1 ; hkecskem@nemours.org" class="auth_mail" title="E-mail the corresponding author ; Francyne Kubaskib ; c ; 1 ; H.T. Harckea ; d ; Shunji Tomatsub ; c
- 关键词：BMD ; bone mineral density ; CP ; cerebral palsy ; C6S ; chondroitin-6-sulfate ; DMD ; Duchenne muscular dystrophy ; DXA ; dual energy X-ray absorptiometry ; ECM ; extracellular matrix ; ERT ; enzyme replacement therapy ; F ; full-time ambulator ; GAGs ; glycosaminoglycans ; GALNS ; N-acetylgalactosamine-6-sulfate sulfatase ; HAZ ; height-adjusted Z-score ; HGMD ; The Human Gene Mutation Database ; KS ; keratan sulfate ; LDF ; lateral distal femur ; LS ; lumbar spine ; MPS IVA ; mucopolysaccharidosis type IV A ; NHANES ; Nation
- 刊名：Molecular Genetics and Metabolism
- 出版年：2016
- 出版时间：February 2016
- 年：2016
- 卷：117
- 期：2
- 页码：144-149
- 全文大小：539 K
文摘
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Assessment of BMD in patients with Morquio A is challenging.
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Abnormal vertebral shapes limit the use of lumbar spine DXA.
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Patients have low BMD at all body sites measured.
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Lateral distal femur is the most feasible site for measurement of BMD.
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Ambulation plays a major role in preserving BMD.