(Q34634354)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22173792%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

title

Consensus treatment recommendations for late-onset Pompe disease (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22173792%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22173792%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

author name string

Edward J Cupler

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22173792%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

Robert T Leshner

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22173792%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

Gil I Wolfe

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22173792%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

Jay J Han

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22173792%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

Richard J Barohn

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22173792%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

John T Kissel

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22173792%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

AANEM Consensus Committee on Late-onset Pompe Disease

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22173792%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

publication date

15 December 2011

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22173792%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22173792%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

volume

45

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22173792%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

issue

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22173792%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

page(s)

319-333

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22173792%20AND%20SRC:MED&resulttype=core&format=json

Sleep and sleep-disordered breathing in the hospitalized patient

18 January 2020

cites work

1 reference

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Low bone mass in Pompe disease: muscular strength as a predictor of bone mineral density

7 July 2018

1 reference

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A randomized study of alglucosidase alfa in late-onset Pompe's disease

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3534745

Digital microfluidics: a future technology in the newborn screening laboratory?

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3534745

Gel-mediated delivery of AAV1 vectors corrects ventilatory function in Pompe mice with established disease

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3534745

Pompe disease in infants: improving the prognosis by newborn screening and early treatment.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3534745

Rehabilitation management of neuromuscular disease: the role of exercise training

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3534745

Side-alternating vibration training improves muscle performance in a patient with late-onset pompe disease

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3534745

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 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3534745

Pompe disease: a neuromuscular disease with respiratory muscle involvement

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3534745

Therapeutic approaches in glycogen storage disease type II/Pompe Disease.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3534745

Pompe disease: a review of the current diagnosis and treatment recommendations in the era of enzyme replacement therapy

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3534745

Eight years experience with enzyme replacement therapy in two children and one adult with Pompe disease

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3534745

Update of the Pompe disease mutation database with 107 sequence variants and a format for severity rating

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3534745

Role of autophagy in the pathogenesis of Pompe disease.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3534745

Deconstructing Pompe disease by analyzing single muscle fibers: to see a world in a grain of sand...

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3534745

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3534745

Obesity hypoventilation syndrome: prevalence and predictors in patients with obstructive sleep apnea

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3534745

Recombinant human acid [alpha]-glucosidase: major clinical benefits in infantile-onset Pompe disease

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3534745

Chinese hamster ovary cell-derived recombinant human acid alpha-glucosidase in infantile-onset Pompe disease

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3534745

Lysosomal dysfunction, cellular pathology and clinical symptoms: basic principles

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3534745

Physical therapy management of Pompe disease

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3534745

Pompe disease diagnosis and management guideline.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3534745

Wheelchair evaluation for the older adult

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3534745

Respiratory function assessment and intervention in neuromuscular disorders

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3534745

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3534745

Sleep in restrictive and neuromuscular respiratory disorders

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3534745

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3534745

Respiratory care of the patient with Duchenne muscular dystrophy: ATS consensus statement.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3534745

Pompe disease in infants and children

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3534745

Long-term intravenous treatment of Pompe disease with recombinant human alpha-glucosidase from milk

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3534745

Surgical treatment of spinal deformities in Duchenne muscular dystrophy: a long term follow-up study

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3534745

Enzyme replacement therapy in late-onset Pompe's disease: a three-year follow-up

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3534745

Efficacy of multidisciplinary approach in the treatment of two cases of nonclassical infantile glycogenosis type II.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3534745

alpha-Glucosidase deficiency in generalized glycogenstorage disease (Pompe's disease).

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3534745

Tissue fractionation studies. 6. Intracellular distribution patterns of enzymes in rat-liver tissue

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3534745

Role of physical activity and exercise training in neuromuscular diseases

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3534745

Acid alpha-glucosidase deficiency (glycogenosis type II, Pompe disease).

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3534745

Pulmonary function testing in neuromuscular disease

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3534745

Acid maltase deficiency and related myopathies

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3534745

Frequency of glycogen storage disease type II in The Netherlands: implications for diagnosis and genetic counselling

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3534745

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3534745

Limb contractures in progressive neuromuscular disease and the role of stretching, orthotics, and surgery

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3534745

Consensus development methods, and their use in clinical guideline development

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3534745

Respiratory insufficiency in adult-type acid maltase deficiency

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3534745

A case of juvenile form Pompe's disease manifested as chronic alveolar hypoventilation

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3534745

Obstructive sleep apnea syndrome in acid maltase deficiency.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3534745

Respiratory failure as initial symptom of acid maltase deficiency

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3534745

Infantile acid maltase deficiency. I. Muscle fiber destruction after lysosomal rupture

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3534745

7 July 2018

Functions of lysosomes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3534745

Enzyme replacement in Pompe disease: an attempt with purified human acid alpha-glucosidase

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3534745

Scoliosis associated with Duchenne muscular dystrophy

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3534745

Scoliosis in spinal muscular atrophy: natural history and management

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3534745

Acid maltase deficiency in adults presenting as respiratory failure

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3534745

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

7 July 2018

1 reference

Diagnostic criteria for late-onset (childhood and adult) Pompe disease

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

Benign course of glycogen storage disease type IIb in two brothers: nature or nurture?

21 January 2018

1 reference

Report on the muscular dystrophy campaign workshop: exercise in neuromuscular diseases Newcastle, January 2002.

21 January 2018

1 reference

Low magnitude mechanical loading is osteogenic in children with disabling conditions.

21 January 2018

1 reference

The prognostic value of pre-operative predicted forced vital capacity in corrective spinal surgery for Duchenne's muscular dystrophy

21 January 2018

1 reference

Respiratory failure in Pompe disease: treatment with noninvasive ventilation

21 January 2018

1 reference

Sleep-disordered breathing and respiratory failure in acid maltase deficiency.

21 January 2018

1 reference

Respiratory insufficiency and limb muscle weakness in adults with Pompe's disease

21 January 2018

1 reference

ATS/ERS Statement on respiratory muscle testing.

21 January 2018

1 reference

Monitoring of pulmonary function in Pompe disease: a muscle disease with new therapeutic perspectives

21 January 2018

1 reference

Cardiac involvement in adults with Pompe disease.

21 January 2018

1 reference

Enzyme replacement therapy in late-onset type II glycogenosis.

21 January 2018

1 reference

Glycogen storage disease type II (Pompe disease)--influence of enzyme replacement therapy in adults

21 January 2018

1 reference

Making diagnosis of Pompe disease at a presymptomatic stage: to treat or not to treat?

21 January 2018

1 reference

Modification of the natural history of adult-onset acid maltase deficiency by nutrition and exercise therapy

21 January 2018

1 reference

Confirmation of the regional localization of the genes for human acid alpha-glucosidase (GAA) and adenosine deaminase (ADA) by somatic cell hybridization

21 January 2018

1 reference

Late onset Pompe disease: Clinical and neurophysiological spectrum of 38 patients including long-term follow-up in 18 patients

21 January 2018

1 reference

Steroid treatment and the development of scoliosis in males with duchenne muscular dystrophy

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3534745

Spinal deformity in progressive neuromuscular disease. Natural history and management.

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3534745

Spinal fusion in Duchenne muscular dystrophy

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3534745

Long-term results of spine surgery in Duchenne muscular dystrophy

26 October 2018

1 reference

Carrier frequency for glycogen storage disease type II in New York and estimates of affected individuals born with the disease

21 January 2018

1 reference

12 December 2020

Longitudinal study of spinal deformity in Duchenne muscular dystrophy

1 reference

12 December 2020

A diagnostic protocol for adult-onset glycogen storage disease type II

1 reference

12 December 2020

Rigid spine syndrome revealing late-onset Pompe disease

1 reference

12 December 2020

Acid maltase deficiency: comparison of infantile, childhood, and adult types

1 reference

12 December 2020

How humans walk: bout duration, steps per bout, and rest duration

1 reference

12 December 2020

Juvenile onset acid maltase deficiency presenting as a rigid spine syndrome

1 reference

12 December 2020

Clinical features of late-onset Pompe disease: a prospective cohort study

1 reference

12 December 2020

Effects of the administration of O2 on ventilation and blood gases in patients with chronic obstructive pulmonary disease during acute respiratory failure

1 reference

12 December 2020

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

1 reference

12 December 2020

Duchenne muscular dystrophy: patterns of clinical progression and effects of supportive therapy

1 reference

12 December 2020

Juvenile and adult-onset acid maltase deficiency in France: genotype-phenotype correlation

1 reference

12 December 2020

Biochemical aspects of glycogen deposition disease

1 reference

12 December 2020

Rapid diagnosis of late-onset Pompe disease by fluorometric assay of alpha-glucosidase activities in dried blood spots

1 reference

12 December 2020

Adverse events associated with eccentric exercise protocols: six case studies

1 reference

12 December 2020

Pompe disease: dramatic improvement in gastrointestinal function following enzyme replacement therapy. A report of three later-onset patients

1 reference

12 December 2020

Clinical indications for noninvasive positive pressure ventilation in chronic respiratory failure due to restrictive lung disease, COPD, and nocturnal hypoventilation--a consensus conference report

1 reference

12 December 2020

Exercise-induced muscle damage--animal and human models

1 reference

12 December 2020

Dietary treatment in adult-onset type II glycogenosis

1 reference

12 December 2020

Adult-onset acid maltase deficiency with prominent bulbar involvement and ptosis

1 reference

12 December 2020

Adult acid maltase deficiency

1 reference

12 December 2020

Identifiers

DOI

10.1002/MUS.22329

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22173792%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22173792%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

PubMed publication ID

22173792

1 reference