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Clinical course of sly syndrome (mucopolysaccharidosis type VII)

Journal of medical genetics, 2016-06, Vol.53 (6), p.403-418

2016

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Persistent bone and joint disease despite current treatments for mucopolysaccharidosis types I, II, and VI: Data from a 10‐year prospective study

Journal of inherited metabolic disease, 2023-07, Vol.46 (4), p.695-704

2023

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Literature review and expert opinion on the impact of achondroplasia on medical complications and health-related quality of life and expectations for long-term impact of vosoritide: a modified Delphi study

Orphanet journal of rare diseases, 2022-06, Vol.17 (1), p.224-10, Article 224

2022

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Best practice guidelines in managing the craniofacial aspects of skeletal dysplasia

Orphanet journal of rare diseases, 2021-01, Vol.16 (1), p.31-31, Article 31

2021

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

Journal of inherited metabolic disease, 2013-03, Vol.36 (2), p.339-355

2013

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Best practice guidelines for management of spinal disorders in skeletal dysplasia

Orphanet journal of rare diseases, 2020-06, Vol.15 (1), p.1-161, Article 161

2020

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Treatment of thoracolumbar kyphosis in patients with mucopolysaccharidosis type I: results of an international consensus procedure

Orphanet journal of rare diseases, 2019-01, Vol.14 (1), p.17-17, Article 17

2019

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Carpal tunnel syndrome in mucopolysaccharidosis: the value of rare disease registries

Developmental medicine and child neurology, 2017-12, Vol.59 (12), p.1213-1214

White, Klane K

2017

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Mucopolysaccharidosis IVA (Morquio A syndrome) and VI (Maroteaux–Lamy syndrome): under-recognized and challenging to diagnose

Skeletal radiology, 2014-03, Vol.43 (3), p.359-369

2014

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Biomarkers for prediction of skeletal disease progression in mucopolysaccharidosis type I

JIMD reports, 2021-03, Vol.58 (1), p.89-99

2021

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Orthopaedic Manifestations in Turner Syndrome

Journal of the American Academy of Orthopaedic Surgeons, 2019-12, Vol.27 (23), p.e1021-e1028

2019

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Musculoskeletal screening: developmental dysplasia of the hip

Pediatric annals, 2013-11, Vol.42 (11), p.229

2013

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Low Preoperative Lung Functions in Children With Early Onset Scoliosis Predict Postoperative Length of Stay

Journal of pediatric orthopaedics, 2021-04, Vol.41 (4), p.e316-e320

2021

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Spinal Cord Injury After Extremity Surgery in Children With Thoracic Kyphosis

Clinical orthopaedics and related research, 2015-10, Vol.473 (10), p.3315-3320

2015

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The success of thoracoscopic anterior fusion in a consecutive series of 112 pediatric spinal deformity cases

Spine (Philadelphia, Pa. 1976), 2005-02, Vol.30 (4), p.392-398

2005

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Clinical utility of comprehensive gene panel testing for common and rare causes of skeletal dysplasia and other skeletal disorders: Results from the largest cohort to date

American journal of medical genetics. Part A, 2024-09, Vol.194 (9), p.e63646-n/a

2024

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Musculoskeletal Functional Outcomes in Children With Osteogenesis Imperfecta: Associations With Disease Severity and Pamidronate Therapy

Journal of pediatric orthopaedics, 2014-01, Vol.34 (1), p.118-122

2014

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Connective Tissue Disease Patients Maintain Greater Distraction During Growth Friendly Surgery

Journal of pediatric orthopaedics, 2022-02, Vol.42 (2), p.e188-e191

2022

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Best practice guidelines regarding prenatal evaluation and delivery of patients with skeletal dysplasia

American journal of obstetrics and gynecology, 2018-12, Vol.219 (6), p.545-562

2018

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Is there a correlation between sleep disordered breathing and foramen magnum stenosis in children with achondroplasia?

American journal of medical genetics. Part A, 2016-01, Vol.170A (1), p.32-41

2016

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Thoracogenic spinal deformity: a rare cause of early-onset scoliosis

Journal of neurosurgery. Spine, 2018-12, Vol.29 (6), p.674-679

2018

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VEPTR™ Growing Rods for Early-onset Neuromuscular Scoliosis: Feasible and Effective

Clinical orthopaedics and related research, 2011-05, Vol.469 (5), p.1335-1341

2011

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Vosoritide Therapy in Children with Achondroplasia: Early Experience and Practical Considerations for Clinical Practice

Advances in therapy, 2024, Vol.41 (1), p.198-214

2024

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Clinical course of sly syndrome (mucopolysaccharidosis type VII)

Persistent bone and joint disease despite current treatments for mucopolysaccharidosis types I, II, and VI: Data from a 10‐year prospective study

Literature review and expert opinion on the impact of achondroplasia on medical complications and health-related quality of life and expectations for long-term impact of vosoritide: a modified Delphi study

Best practice guidelines in managing the craniofacial aspects of skeletal dysplasia

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

Best practice guidelines for management of spinal disorders in skeletal dysplasia

Treatment of thoracolumbar kyphosis in patients with mucopolysaccharidosis type I: results of an international consensus procedure

Carpal tunnel syndrome in mucopolysaccharidosis: the value of rare disease registries

Mucopolysaccharidosis IVA (Morquio A syndrome) and VI (Maroteaux–Lamy syndrome): under-recognized and challenging to diagnose

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

Biomarkers for prediction of skeletal disease progression in mucopolysaccharidosis type I

Orthopaedic Manifestations in Turner Syndrome

Musculoskeletal screening: developmental dysplasia of the hip

Low Preoperative Lung Functions in Children With Early Onset Scoliosis Predict Postoperative Length of Stay

Spinal Cord Injury After Extremity Surgery in Children With Thoracic Kyphosis

The success of thoracoscopic anterior fusion in a consecutive series of 112 pediatric spinal deformity cases

Clinical utility of comprehensive gene panel testing for common and rare causes of skeletal dysplasia and other skeletal disorders: Results from the largest cohort to date

Musculoskeletal Functional Outcomes in Children With Osteogenesis Imperfecta: Associations With Disease Severity and Pamidronate Therapy

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

Connective Tissue Disease Patients Maintain Greater Distraction During Growth Friendly Surgery

Best practice guidelines regarding prenatal evaluation and delivery of patients with skeletal dysplasia

Is there a correlation between sleep disordered breathing and foramen magnum stenosis in children with achondroplasia?

Thoracogenic spinal deformity: a rare cause of early-onset scoliosis

VEPTR™ Growing Rods for Early-onset Neuromuscular Scoliosis: Feasible and Effective

Vosoritide Therapy in Children with Achondroplasia: Early Experience and Practical Considerations for Clinical Practice

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