The prevalence and impact of scoliosis in Pompe disease: lessons learned from the Pompe Registry (Q44468327)

3 December 2017

The prevalence and impact of scoliosis in Pompe disease: lessons learned from the Pompe Registry (English)

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3 December 2017

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Laura E Case

7

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Luciano Merlini

object named as

Luciano Merlini

5

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author name string

Mark Roberts

1

1 reference

3 December 2017

Priya S Kishnani

2

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3 December 2017

Ans T van der Ploeg

3

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3 December 2017

Wolfgang Müller-Felber

4

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3 December 2017

Suyash Prasad

6

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3 December 2017

16 August 2011

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Molecular Genetics and Metabolism

3 December 2017

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3 December 2017

104

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3 December 2017

574-582

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3 December 2017

4

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The transformation of spinal curvature into spinal deformity: pathological processes and implications for treatment

3 December 2017

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.08.011

Scoliosis: Review of diagnosis and treatment

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.08.011

Rare causes of scoliosis and spine deformity: experience and particular features

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.08.011

Rate of complications in scoliosis surgery - a systematic review of the Pub Med literature

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.08.011

New strategies and decision making in the management of neuromuscular scoliosis

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.08.011

Scoliosis surgery in children with neuromuscular disease: findings from the US National Inpatient Sample, 1997 to 2003

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.08.011

The natural history of spine curvature progression in the nonambulatory Duchenne muscular dystrophy patient

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.08.011

A Dutch guideline for the treatment of scoliosis in neuromuscular disorders.

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.08.011

The Brazilian consensus on the management of Pompe disease.

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.08.011

Surgical complications in neuromuscular scoliosis operated with posterior- only approach using pedicle screw fixation

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.08.011

Pompe disease diagnosis and management guideline.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.08.011

Physical therapy management of Pompe disease

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.08.011

Fractures in children with Pompe disease: a potential long-term complication

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.08.011

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.08.011

Management and treatment of glycogenosis type II.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.08.011

Reversal of childhood idiopathic scoliosis in an adult, without surgery: a case report and literature review

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.08.011

Surgical treatment of scoliosis: a review of techniques currently applied

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.08.011

Respiratory impairment and airway closure in patients with untreated idiopathic scoliosis

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.08.011

Lung function in adult idiopathic scoliosis: a 20 year follow up.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.08.011

The treatment of scoliosis in Duchenne muscular dystrophy

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.08.011

Effects of scoliosis on respiratory muscle strength in patients with neuromuscular disorders.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.08.011

Early detection of Pompe disease by newborn screening is feasible: results from the Taiwan screening program.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.08.011

Autophagy: a lysosomal degradation pathway with a central role in health and disease

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.08.011

Autophagy and mistargeting of therapeutic enzyme in skeletal muscle in Pompe disease

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.08.011

Autophagy and lysosomes in Pompe disease

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.08.011

When more is less: excess and deficiency of autophagy coexist in skeletal muscle in Pompe disease

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.08.011

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.08.011

A retrospective, multinational, multicenter study on the natural history of infantile-onset Pompe disease

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.08.011

The natural course of infantile Pompe's disease: 20 original cases compared with 133 cases from the literature

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.08.011

Clinical manifestation and natural course of late-onset Pompe's disease in 54 Dutch patients

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.08.011

Enzyme replacement therapy with alglucosidase alfa in 44 patients with late-onset glycogen storage disease type 2: 12-month results of an observational clinical trial.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.08.011

Rate of disease progression during long-term follow-up of patients with late-onset Pompe disease.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.08.011

Rigid spine syndrome revealing late-onset Pompe disease

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.08.011

Diagnosis and management of Duchenne muscular dystrophy, part 2: implementation of multidisciplinary care

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.08.011

Predictive factors for the development of scoliosis in Duchenne muscular dystrophy

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.08.011

Management of scoliosis in Duchenne muscular dystrophy: a large 10-year retrospective study

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.08.011

Spinal deformities and wheelchair seating in Duchenne muscular dystrophy: twenty years of research and clinical experience.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.08.011

Duchenne muscular dystrophy

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.08.011

Surgical and functional results of spine fusion in spinal muscular atrophy.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.08.011

Pompe disease: a neuromuscular disease with respiratory muscle involvement

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.08.011

Pompe disease: Design, methodology, and early findings from the Pompe Registry

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.08.011

The natural course of non-classic Pompe's disease; a review of 225 published cases

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.08.011

Curve length, curve form, and location of lower-end vertebra as a means of identifying the type of scoliosis

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.08.011

Spontaneous regression of curve in immature idiopathic scoliosis - does spinal column play a role to balance? An observation with literature review.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.08.011

Disease registries and outcomes research in children: focus on lysosomal storage disorders

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.08.011

Conservative management of neuromuscular scoliosis: personal experience and review of literature

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.08.011

The management of spinal deformities in Duchenne muscular dystrophy. A new concept of spinal bracing

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.08.011

Evaluation of pulmonary function in muscular dystrophy patients requiring spinal surgery

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.08.011

Anaesthetic management of an obstetric patient with Pompe disease.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.08.011

Pompe disease in infants and children

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.08.011

Screening for Pompe disease using a rapid dried blood spot method: experience of a clinical diagnostic laboratory

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.08.011

Diagnostic efficacy of the fluorometric determination of enzyme activity for Pompe disease from dried blood specimens compared with lymphocytes-possibility for newborn screening

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.08.011

Early treatment with alglucosidase alpha prolongs long-term survival of infants with Pompe disease

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.08.011

10.1016/J.YMGME.2011.08.011

7 January 2021

Identifiers

DOI

1 reference

release_iuspa5ggfrajbmykdytptpe5ra

3 December 2017

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/iuspa5ggfrajbmykdytptpe5ra

mapped directly with Wikidata item

24 November 2022

based on heuristic

1 reference