(Q34567528)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16702877%20AND%20SRC:MED&resulttype=core&format=json

21 January 2020

title

Pompe disease diagnosis and management guideline (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16702877%20AND%20SRC:MED&resulttype=core&format=json

21 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16702877%20AND%20SRC:MED&resulttype=core&format=json

21 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16702877%20AND%20SRC:MED&resulttype=core&format=json

21 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16702877%20AND%20SRC:MED&resulttype=core&format=json

21 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16702877%20AND%20SRC:MED&resulttype=core&format=json

21 January 2020

Priya S Kishnani

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16702877%20AND%20SRC:MED&resulttype=core&format=json

21 January 2020

Deeksha Bali

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16702877%20AND%20SRC:MED&resulttype=core&format=json

21 January 2020

author name string

ACMG Work Group on Management of Pompe Disease

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16702877%20AND%20SRC:MED&resulttype=core&format=json

21 January 2020

Barry J Byrne

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16702877%20AND%20SRC:MED&resulttype=core&format=json

21 January 2020

Laura E Case

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16702877%20AND%20SRC:MED&resulttype=core&format=json

21 January 2020

John F Crowley

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16702877%20AND%20SRC:MED&resulttype=core&format=json

21 January 2020

Steven Downs

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16702877%20AND%20SRC:MED&resulttype=core&format=json

21 January 2020

R Rodney Howell

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16702877%20AND%20SRC:MED&resulttype=core&format=json

21 January 2020

Richard M Kravitz

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16702877%20AND%20SRC:MED&resulttype=core&format=json

21 January 2020

Joanne Mackey

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16702877%20AND%20SRC:MED&resulttype=core&format=json

21 January 2020

Deborah Marsden

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16702877%20AND%20SRC:MED&resulttype=core&format=json

21 January 2020

Anna Maria Martins

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16702877%20AND%20SRC:MED&resulttype=core&format=json

21 January 2020

David S Millington

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16702877%20AND%20SRC:MED&resulttype=core&format=json

21 January 2020

Marc Nicolino

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16702877%20AND%20SRC:MED&resulttype=core&format=json

21 January 2020

Gwen O'Grady

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16702877%20AND%20SRC:MED&resulttype=core&format=json

21 January 2020

Alfred Slonim

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16702877%20AND%20SRC:MED&resulttype=core&format=json

21 January 2020

Carolyn T Spencer

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16702877%20AND%20SRC:MED&resulttype=core&format=json

21 January 2020

Cynthia J Tifft

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16702877%20AND%20SRC:MED&resulttype=core&format=json

21 January 2020

Michael S Watson

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16702877%20AND%20SRC:MED&resulttype=core&format=json

21 January 2020

language of work or name

English

0 references

publication date

1 May 2006

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16702877%20AND%20SRC:MED&resulttype=core&format=json

21 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16702877%20AND%20SRC:MED&resulttype=core&format=json

21 January 2020

volume

1 reference

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21 January 2020

issue

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16702877%20AND%20SRC:MED&resulttype=core&format=json

21 January 2020

page(s)

267-288

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16702877%20AND%20SRC:MED&resulttype=core&format=json

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

21 January 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3110959

Physical therapy management of Pompe disease

7 July 2018

1 reference

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Diagnostic challenges for Pompe disease: an under-recognized cause of floppy baby syndrome

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3110959

Practice parameters for the indications for polysomnography and related procedures: an update for 2005.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3110959

Infantile onset Pompe disease: a report of physician narratives from an epidemiologic 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=3110959

Efficacy of an adeno-associated virus 8-pseudotyped vector in glycogen storage disease 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=3110959

Replacing acid alpha-glucosidase in Pompe disease: recombinant and transgenic enzymes are equipotent, but neither completely clears glycogen from type II muscle fibers.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3110959

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

7 July 2018

1 reference

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Direct multiplex assay of lysosomal enzymes in dried blood spots for newborn screening

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3110959

Hearing loss in infantile Pompe's disease and determination of underlying pathology in the knockout mouse

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3110959

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=3110959

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=3110959

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=3110959

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=3110959

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3110959

Use of power mobility for a young child with spinal muscular atrophy.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3110959

Family-centered care coordination for children with special needs across multiple settings.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3110959

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=3110959

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=3110959

The Faces Pain Scale-Revised: toward a common metric in pediatric pain measurement

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3110959

Enzyme therapy for pompe disease with recombinant human alpha-glucosidase from rabbit 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=3110959

Recombinant human acid alpha-glucosidase enzyme therapy for infantile glycogen storage disease type II: results of a phase I/II 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=3110959

Identification of two subtypes of infantile 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=3110959

A randomized comparative study of two methods for controlling Tendo Achilles contracture in 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=3110959

Effects of varying approaches for identifying respiratory disturbances on sleep apnea assessment

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3110959

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=3110959

Systemic correction of the muscle disorder glycogen storage disease type II after hepatic targeting of a modified adenovirus vector encoding 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=3110959

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=3110959

Dietary treatment in late-onset 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=3110959

Reference values for extremity muscle strength obtained by hand-held dynamometry from adults aged 20 to 79 years

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3110959

A penetration-aspiration scale

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3110959

High-level production of recombinant human lysosomal acid alpha-glucosidase in Chinese hamster ovary cells which targets to heart muscle and corrects glycogen accumulation in fibroblasts from patients 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=3110959

CRIES: a new neonatal postoperative pain measurement score. Initial testing of validity and reliability

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3110959

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=3110959

The occurrence of sleep-disordered breathing among middle-aged adults

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3110959

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=3110959

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=3110959

Rehabilitation management of muscular dystrophy and related disorders: II. Comprehensive care.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3110959

7 July 2018

Inherited muscle disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3110959

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=3110959

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=3110959

The spectrum and diagnosis 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=3110959

Pseudohypertrophic muscular dystrophy and its surgical management: review of 30 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=3110959

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3110959

The 6-minute walk: a new measure of exercise capacity in patients with chronic heart 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=3110959

Grip and pinch strength: normative data for adults

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3110959

Prenatal diagnosis of glycogenosis type II (Pompe's disease) using chorionic villi biopsy

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3110959

Pompe's disease and anaesthesia

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3110959

For how long must the soleus muscle be stretched each day to prevent contracture?

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3110959

The Faces Pain Scale for the self-assessment of the severity of pain experienced by children: development, initial validation, and preliminary investigation for ratio scale properties.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3110959

Swallowing in torticollis before and after rhizotomy

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3110959

Pompe's disease presenting as hypertrophic myocardiopathy with Wolff-Parkinson-White syndrome

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3110959

L-alanine supplementation in late infantile glycogen storage disease type II.

7 July 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000218152.87434.F3

Late-onset Pompe disease primarily affects quality of life in physical health domains.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000218152.87434.F3

Electrocardiographic response to enzyme replacement therapy for Pompe disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000218152.87434.F3

Anaesthetic management of infants with glycogen storage disease type II: a physiological approach

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000218152.87434.F3

Glycogen storage disease type II: enzymatic screening in dried blood spots on filter paper

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000218152.87434.F3

Analysis of a glucose tetrasaccharide elevated in Pompe disease by stable isotope dilution–electrospray ionization tandem mass spectrometry

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000218152.87434.F3

Glucose tetrasaccharide as a biomarker for monitoring the therapeutic response to enzyme replacement therapy for Pompe disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000218152.87434.F3

Transgenic mice overexpressing mutant PRKAG2 define the cause of Wolff-Parkinson-White syndrome in glycogen storage cardiomyopathy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000218152.87434.F3

Sleep-disordered breathing and respiratory failure in acid maltase deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000218152.87434.F3

ATS/ERS Statement on respiratory muscle testing

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000218152.87434.F3

Nocturnal pulse oximetry as an abbreviated testing modality for pediatric obstructive sleep apnea

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000218152.87434.F3

Comparison of Home Oximetry Monitoring With Laboratory Polysomnography in Children *

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000218152.87434.F3

Cough augmentation with mechanical insufflation/exsufflation in patients with neuromuscular weakness

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000218152.87434.F3

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000218152.87434.F3

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000218152.87434.F3

Late-onset acid maltase deficiency associated with intracranial aneurysm

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000218152.87434.F3

Twenty-two novel mutations in the lysosomal ?-glucosidase gene (GAA) underscore the genotype-phenotype correlation in glycogen storage disease type II

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000218152.87434.F3

Recombinant human alpha-glucosidase from rabbit milk in Pompe patients.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000218152.87434.F3

Safety and efficacy of recombinant acid alpha-glucosidase (rhGAA) in patients with classical infantile Pompe disease: results of a phase II clinical trial

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000218152.87434.F3

Complete correction of acid alpha-glucosidase deficiency in Pompe disease fibroblasts in vitro, and lysosomally targeted expression in neonatal rat cardiac and skeletal muscle

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000218152.87434.F3

Muscle as a putative producer of acid alpha-glucosidase for glycogenosis type II gene therapy

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000218152.87434.F3

Efficacy of gene therapy for a prototypical lysosomal storage disease (GSD-II) is critically dependent on vector dose, transgene promoter, and the tissues targeted for vector transduction

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000218152.87434.F3

Correction of the enzymatic and functional deficits in a model of Pompe disease using adeno-associated virus vectors

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000218152.87434.F3

Correction of glycogen storage disease type II by an adeno-associated virus vector containing a muscle-specific promoter

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000218152.87434.F3

Evasion of immune responses to introduced human acid alpha-glucosidase by liver-restricted expression in glycogen storage disease type II.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000218152.87434.F3

Impact of humoral immune response on distribution and efficacy of recombinant adeno-associated virus-derived acid alpha-glucosidase in a model of glycogen storage disease type II.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000218152.87434.F3

Development of a disease-specific disability instrument for Pompe disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000218152.87434.F3

Interrater agreement and stability of the Functional Independence Measure for Children (WeeFIM): use in children with developmental disabilities.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000218152.87434.F3

Overview of the SF-36 Health Survey and the International Quality of Life Assessment (IQOLA) Project.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000218152.87434.F3

The PedsQL: measurement model for the pediatric quality of life inventory

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000218152.87434.F3

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

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3110959

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

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3110959

Sustained correction of glycogen storage disease type II using adeno-associated virus serotype 1 vectors

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3110959

Frequency of mutations for glycogen storage disease type II in different populations: the delta525T and deltaexon 18 mutations are not generally "common" in white populations.

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3110959

Effects of etomidate on the cardiac papillary muscle of normal hamsters and those with cardiomyopathy.

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3110959

The Sickness Impact Profile: Development and Final Revision of a Health Status Measure

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3110959

Facioscapulohumeral dystrophy natural history study: standardization of testing procedures and reliability of measurements. The FSH DY Group

27 October 2018

1 reference

12 December 2020

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

1 reference

12 December 2020

Grip and pinch strength: norms for 6- to 19-year-olds

1 reference

12 December 2020

Improvement of muscle function in acid maltase deficiency by high-protein therapy

1 reference

12 December 2020

Mutations in the acid alpha-glucosidase gene (M. Pompe) in a patient with an unusual phenotype

1 reference

12 December 2020

Elevation of transaminases as an early sign of late-onset glycogenosis type II

1 reference

12 December 2020

[Hemodynamic findings in the adult form of type II glycogenosis]

1 reference

12 December 2020

The effects of l-alanine supplementation in late-onset glycogen storage disease type II

1 reference

12 December 2020

Comparison of maltose and acarbose as inhibitors of maltase-glucoamylase activity in assaying acid alpha-glucosidase activity in dried blood spots for the diagnosis of infantile Pompe disease

1 reference

12 December 2020

Bone health in Duchenne muscular dystrophy: a workshop report from the meeting in Cincinnati, Ohio, July 8, 2004

1 reference

12 December 2020

Report of a Muscular Dystrophy Campaign funded workshop Birmingham, UK, January 16th 2004. Osteoporosis in Duchenne muscular dystrophy; its prevalence, treatment and prevention

1 reference

12 December 2020

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

1 reference

12 December 2020

Renal magnesium wasting, hypomagnesemic hypocalcemia, hypocalciuria and osteopenia in a patient with glycogenosis type II

1 reference

12 December 2020

Morphological changes in muscle tissue of patients with infantile Pompe's disease receiving enzyme replacement therapy

1 reference

12 December 2020

Electrophysiological Mechanism of the Short PR Interval in Pompe Disease

1 reference

12 December 2020

Bone marrow transplantation for glycogen storage disease type II (Pompé's disease)

1 reference

12 December 2020

Determination of acid alpha-glucosidase activity in blood spots as a diagnostic test for Pompe disease

1 reference

12 December 2020

Fusiform aneurysm of basilar artery and ectatic internal carotid arteries associated with glycogenosis type 2 (Pompe's disease)

1 reference

12 December 2020

An interesting case of infant sudden death: severe hypertrophic cardiomyopathy in Pompe's disease

1 reference

12 December 2020

A study of contractures in muscular dystrophy

1 reference

12 December 2020

Deletion of exon 18 is a frequent mutation in glycogen storage disease type II

1 reference

12 December 2020

Management of progressive muscular dystrophy in childhood

1 reference

12 December 2020

Choosing a faces pain scale

1 reference

12 December 2020

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

1 reference

12 December 2020

Ambulatory electrocardiogram analysis in infants treated with recombinant human acid alpha-glucosidase enzyme replacement therapy for Pompe disease

1 reference

12 December 2020

Prenatal diagnosis of glycogen storage disease type II: enzyme assay or mutation analysis?

1 reference

12 December 2020

Prenatal diagnosis of Pompe's disease (type II glycogenosis) in chorionic villus biopsy using maltose as a substrate

1 reference

12 December 2020

Newborn screening for lysosomal storage disorders: clinical evaluation of a two-tier strategy

1 reference

12 December 2020

Physical models of rehabilitation in neuromuscular disease

1 reference

12 December 2020

Retroviral Transfer of Acidα-Glucosidase cDNA to Enzyme-Deficient Myoblasts Results in Phenotypic Spread of the Genotypic Correction by Both Secretion and Fusion

1 reference

12 December 2020

Isometric muscle force and anthropometric values in normal children aged between 3.5 and 15 years

1 reference

12 December 2020

Liquid chromatographic assay for a glucose tetrasaccharide, a putative biomarker for the diagnosis of Pompe disease

1 reference

12 December 2020

The functional independence measure: a new tool for rehabilitation

1 reference

12 December 2020

White blood cells and the diagnosis of alpha-glucosidase deficiency

1 reference

12 December 2020

Alpha-glucosidase deficiency and basilar artery aneurysm: report of a sibship

1 reference

12 December 2020

10.1097/01.GIM.0000218152.87434.F3

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16702877%20AND%20SRC:MED&resulttype=core&format=json

Dimensions Publication ID

21 January 2020

0 references

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16702877%20AND%20SRC:MED&resulttype=core&format=json

21 January 2020

PubMed publication ID

16702877

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16702877%20AND%20SRC:MED&resulttype=core&format=json