Orthopaedic aspects of mucopolysaccharidoses

KK White - Rheumatology, 2011 - academic.oup.com
Skeletal abnormalities are an early and prominent feature of most mucopolysaccharide
(MPS) disorders, with the degree of skeletal involvement varying between and within MPS …

[HTML][HTML] Spinal involvement in mucopolysaccharidosis IVA (Morquio-Brailsford or Morquio A syndrome): presentation, diagnosis and management

GA Solanki, KW Martin, MC Theroux, C Lampe… - Journal of inherited …, 2013 - Springer
Abstract Mucopolysaccharidosis IVA (MPS IVA), also known as Morquio-Brailsford or
Morquio A syndrome, is a lysosomal storage disorder caused by a deficiency of the enzyme …

Musculoskeletal manifestations of Sanfilippo syndrome (mucopolysaccharidosis type III)

KK White, LA Karol, DR White… - Journal of Pediatric …, 2011 - journals.lww.com
Background The most pronounced symptom in mucopolysaccharidosis type III (MPS III,
Sanfilippo Syndrome) is the severe neurocognitive deterioration of the central nervous …

Clinical course of sly syndrome (mucopolysaccharidosis type VII)

AM Montaño, N Lock-Hock, RD Steiner… - Journal of medical …, 2016 - jmg.bmj.com
Background Mucopolysaccharidosis VII (MPS VII) is an ultra-rare disease characterised by
the deficiency of β-glucuronidase (GUS). Patients' phenotypes vary from severe forms with …

Once-daily, subcutaneous vosoritide therapy in children with achondroplasia: a randomised, double-blind, phase 3, placebo-controlled, multicentre trial

R Savarirayan, L Tofts, M Irving, W Wilcox, CA Bacino… - The Lancet, 2020 - thelancet.com
Background There are no effective therapies for achondroplasia. An open-label study
suggested that vosoritide administration might increase growth velocity in children with …

[HTML][HTML] Safe and persistent growth-promoting effects of vosoritide in children with achondroplasia: 2-year results from an open-label, phase 3 extension study

R Savarirayan, L Tofts, M Irving, WR Wilcox… - Genetics in …, 2021 - nature.com
Purpose Achondroplasia is caused by pathogenic variants in the fibroblast growth factor
receptor 3 gene that lead to impaired endochondral ossification. Vosoritide, an analog of C …

EMG power spectra of intercollegiate athletes and anterior cruciate ligament injury risk in females.

KK White, SS Lee, A Cutuk, AR Hargens… - Medicine and science …, 2003 - europepmc.org
Purpose Females have a disproportionately high incidence of anterior cruciate ligament
(ACL) injuries compared with males in analogous sports. Although the pathogenesis of this …

Best practices in the evaluation and treatment of foramen magnum stenosis in achondroplasia during infancy

KK White, V Bompadre, MJ Goldberg… - American journal of …, 2016 - Wiley Online Library
Achondroplasia is the most common inherited disorder of bone growth (skeletal dysplasia).
Despite this fact, consistent and evidence‐based management approaches to recognized …

Pullout strength of thoracic pedicle screw instrumentation: comparison of the transpedicular and extrapedicular techniques

KK White, R Oka, AT Mahar, A Lowry, SR Garfin - Spine, 2006 - journals.lww.com
Study Design. In vitro biomechanical comparison of two methods of pedicle screw
placement in cadaveric thoracic spine vertebrae. Objective. Compare the biomechanical …

Intramuscular and blood pressures in legs positioned in the hemilithotomy position: clarification of risk factors for well-leg acute compartment syndrome

RS Meyer, KK White, JM Smith, ER Groppo… - JBJS, 2002 - journals.lww.com
Background: Acute compartment syndrome has been widely reported in legs positioned in
the lithotomy position for prolonged general surgical, urologic, and gynecologic procedures …