(Q36953239)

17 August 2017

Skeletal muscle pathology of infantile Pompe disease during long-term enzyme replacement therapy (English)

1 reference

enzyme replacement therapy

17 August 2017

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0 references

Sean N Prater

1

1 reference

17 August 2017

Trusha T Patel

2

1 reference

17 August 2017

Anne F Buckley

3

1 reference

17 August 2017

Hanna Mandel

4

1 reference

17 August 2017

Eugene Vlodavski

5

1 reference

17 August 2017

Suhrad G Banugaria

6

1 reference

17 August 2017

Erin J Feeney

7

1 reference

17 August 2017

Nina Raben

8

1 reference

17 August 2017

Priya S Kishnani

9

1 reference

17 August 2017

20 June 2013

1 reference

Orphanet Journal of Rare Diseases

17 August 2017

1 reference

17 August 2017

8

1 reference

17 August 2017

90

1 reference

https://scigraph.springernature.com/pub.10.1186/1750-1172-8-90

17 August 2017

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cites work

Glycosylation-independent lysosomal targeting of acid α-glucosidase enhances muscle glycogen clearance in pompe mice

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3691834

A bacterial glycosidase enables mannose-6-phosphate modification and improved cellular uptake of yeast-produced recombinant human lysosomal enzymes

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3691834

Bortezomib in the rapid reduction of high sustained antibody titers in disorders treated with therapeutic protein: lessons learned from Pompe disease

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3691834

The emerging phenotype of long-term survivors with infantile Pompe disease.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3691834

Assessing disease severity in Pompe disease: the roles of a urinary glucose tetrasaccharide biomarker and imaging techniques

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3691834

Successful immune tolerance induction to enzyme replacement therapy in CRIM-negative infantile Pompe disease.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3691834

Facial-muscle weakness, speech disorders and dysphagia are common in patients with classic infantile Pompe disease treated with enzyme therapy

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3691834

Atypical immunologic response in a patient with CRIM-negative Pompe disease

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3691834

The impact of antibodies on clinical outcomes in diseases treated with therapeutic protein: lessons learned from infantile Pompe disease

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3691834

Differences in the predominance of lysosomal and autophagic pathologies between infants and adults with Pompe disease: implications for therapy

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3691834

Chorionic villi ultrastructure in the prenatal diagnosis of glycogenosis type II.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3691834

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3691834

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3691834

Glycoengineered acid alpha-glucosidase with improved efficacy at correcting the metabolic aberrations and motor function deficits in a mouse model of Pompe disease

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3691834

Monitoring autophagy in lysosomal storage disorders

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3691834

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3691834

Characterization of pre- and post-treatment pathology after enzyme replacement therapy for Pompe disease

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3691834

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3691834

Pompe disease diagnosis and management guideline.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3691834

Identification of two subtypes of infantile acid maltase deficiency

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3691834

Muscle fiber-type distribution, fiber-type-specific damage, and the Pompe disease phenotype

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3691834

Chorionic villus ultrastructure in type II glycogen storage disease (Pompe's disease)

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3691834

Enzyme replacement therapy in adult-onset glycogenosis II: is quantitative muscle MRI helpful?

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3691834

Clinical outcomes after long-term treatment with alglucosidase alfa in infants and children with advanced Pompe disease.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3691834

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

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3691834

Dysfunction of endocytic and autophagic pathways in a lysosomal storage disease.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3691834

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

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3691834

Relationship between capillary angiogenesis, fiber type, and fiber size in chronic systemic hypoxia

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3691834

Acid phosphatase-positive globular inclusions is a good diagnostic marker for two patients with adult-onset Pompe disease lacking disease specific pathology

4 September 2018

1 reference

Crossref

https://api.crossref.org/works/10.1186%2F1750-1172-8-90

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

21 January 2018

1 reference

12 December 2020

Ultrastructure of the eye in fetal type II glycogenosis (Pompe's disease)

1 reference

12 December 2020

Prenatal diagnosis of Pompe disease by electron microscopy

1 reference

12 December 2020

Enzyme replacement therapy in severe adult-onset glycogen storage disease type II

1 reference

12 December 2020

Identifiers

DOI

10.1186/1750-1172-8-90

1 reference

Dimensions Publication ID

17 August 2017

0 references

1 reference

17 August 2017

1 reference