(Q34349099)

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

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scholarly article

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Europe PubMed Central

PubMed publication ID

1 August 2017

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

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

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Wuh-Liang Hwu

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Europe PubMed Central

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1 August 2017

author name string

Nina Raben

1

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Europe PubMed Central

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1 August 2017

Evelyn Ralston

2

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Europe PubMed Central

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1 August 2017

Yin-Hsiu Chien

3

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Europe PubMed Central

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1 August 2017

Rebecca Baum

4

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Europe PubMed Central

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1 August 2017

Cynthia Schreiner

5

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Europe PubMed Central

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1 August 2017

Kristien J M Zaal

7

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Europe PubMed Central

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1 August 2017

Paul H Plotz

8

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1 August 2017

publication date

7 August 2010

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Europe PubMed Central

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1 August 2017

Molecular Genetics and Metabolism

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Europe PubMed Central

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1 August 2017

101

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Europe PubMed Central

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1 August 2017

4

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Europe PubMed Central

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1 August 2017

324-331

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Europe PubMed Central

PubMed publication ID

1 August 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2991562

6 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2991562

6 July 2018

Cross-reactive immunologic material status affects treatment outcomes in Pompe disease infants

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2991562

6 July 2018

Regulation mechanisms and signaling pathways of autophagy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2991562

6 July 2018

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.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2991562

6 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2991562

6 July 2018

Monitoring autophagy in lysosomal storage disorders

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2991562

6 July 2018

Lysosomal disorders: from storage to cellular damage

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2991562

6 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2991562

6 July 2018

Autophagy revisited: a conversation with Christian de Duve

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2991562

6 July 2018

Detection and imaging of non-contractile inclusions and sarcomeric anomalies in skeletal muscle by second harmonic generation combined with two-photon excited fluorescence

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2991562

6 July 2018

Autophagy fights disease through cellular self-digestion

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2991562

6 July 2018

Autophagy in the Pathogenesis of Disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2991562

6 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2991562

6 July 2018

Constitutive autophagy: vital role in clearance of unfavorable proteins in neurons.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2991562

6 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2991562

6 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2991562

6 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2991562

6 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2991562

6 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2991562

6 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2991562

6 July 2018

LC3, GABARAP and GATE16 localize to autophagosomal membrane depending on form-II formation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2991562

6 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2991562

6 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2991562

6 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2991562

6 July 2018

LC3, a mammalian homologue of yeast Apg8p, is localized in autophagosome membranes after processing

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2991562

6 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2991562

6 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2991562

27 October 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2991562

27 October 2018

Long-term enzyme replacement therapy for pompe disease with recombinant human alpha-glucosidase derived from chinese hamster ovary cells.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2991562

27 October 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2991562

27 October 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2991562

27 October 2018

Enzyme replacement therapy in the mouse model of Pompe disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2991562

27 October 2018

Identification of eight novel mutations of the acid α-glucosidase gene causing the infantile or juvenile form of glycogen storage disease type II

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2010.08.001

7 January 2021

Frequent mutation in Chinese patients with infantile type of GSD II in Taiwan: evidence for a founder effect

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2010.08.001

7 January 2021

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10.1016/J.YMGME.2010.08.001

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

PMC publication ID

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

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