(Q36934500)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17826266%20AND%20SRC:MED&resulttype=core&format=json

6 January 2020

review article

1 reference

title

Pompe disease: current state of treatment modalities and animal models (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17826266%20AND%20SRC:MED&resulttype=core&format=json

6 January 2020

author

Klary E Niezen-Koning

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17826266%20AND%20SRC:MED&resulttype=core&format=json

6 January 2020

author name string

Geel TM

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17826266%20AND%20SRC:MED&resulttype=core&format=json

6 January 2020

McLaughlin PM

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17826266%20AND%20SRC:MED&resulttype=core&format=json

6 January 2020

de Leij LF

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17826266%20AND%20SRC:MED&resulttype=core&format=json

6 January 2020

Ruiters MH

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17826266%20AND%20SRC:MED&resulttype=core&format=json

6 January 2020

publication date

7 September 2007

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17826266%20AND%20SRC:MED&resulttype=core&format=json

Molecular Genetics and Metabolism

6 January 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17826266%20AND%20SRC:MED&resulttype=core&format=json

6 January 2020

volume

92

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17826266%20AND%20SRC:MED&resulttype=core&format=json

6 January 2020

issue

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17826266%20AND%20SRC:MED&resulttype=core&format=json

6 January 2020

page(s)

299-307

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17826266%20AND%20SRC:MED&resulttype=core&format=json

Pompe disease diagnosis and management guideline.

6 January 2020

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

7 January 2021

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Intravenous administration of phosphorylated acid alpha-glucosidase leads to uptake of enzyme in heart and skeletal muscle of mice

7 January 2021

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

7 January 2021

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Enzyme therapy for Pompe disease: from science to industrial enterprise

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

7 January 2021

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Carbohydrate-remodelled acid alpha-glucosidase with higher affinity for the cation-independent mannose 6-phosphate receptor demonstrates improved delivery to muscles of Pompe mice

7 January 2021

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Isolation and Partial Characterization of the Structural Gene for Human Acid Alpha Glucosidase

7 January 2021

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Intracellular transport of acid alpha-glucosidase in human fibroblasts: evidence for involvement of phosphomannosyl receptor-independent system

7 January 2021

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Glucocerebrosidase, a lysosomal enzyme that does not undergo oligosaccharide phosphorylation

7 January 2021

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

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Towards a molecular therapy for glycogen storage disease type II (Pompe disease).

7 January 2021

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Glycogenosis type II (acid maltase deficiency)

7 January 2021

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7 January 2021

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inferred from DOI database lookup

7 January 2021

based on heuristic

Approach to gene therapy of glycogenosis type II (Pompe disease).

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Acid maltase deficiency (type II glycogenosis). Morphological and biochemical study of a childhood phenotype

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.07.009

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

7 January 2021

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

7 January 2021

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Consequences of complexity within biological networks: robustness and health, or vulnerability and disease

7 January 2021

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

7 January 2021

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

7 January 2021

1 reference

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Generalized glycogen storage and cardiomegaly in a knockout mouse model of Pompe disease

7 January 2021

1 reference

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Targeted disruption of the acid alpha-glucosidase gene in mice causes an illness with critical features of both infantile and adult human glycogen storage disease type II

7 January 2021

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Modulation of disease severity in mice with targeted disruption of the acid alpha-glucosidase gene

7 January 2021

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Glycogenosis type II: a juvenile-specific mutation with an unusual splicing pattern and a shared mutation in African Americans

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.07.009

Induction of tolerance to a recombinant human enzyme, acid alpha-glucosidase, in enzyme deficient knockout mice

7 January 2021

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Conditional tissue-specific expression of the acid alpha-glucosidase (GAA) gene in the GAA knockout mice: implications for therapy

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.07.009

Improved efficacy of gene therapy approaches for Pompe disease using a new, immune-deficient GSD-II mouse model

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.07.009

Lysosomes in type II glycogenosis. Changes during administration of extract from Aspergillus niger

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.07.009

Human acid alpha-glucosidase from rabbit milk has therapeutic effect in mice with glycogen storage disease type II

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.07.009

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 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.07.009

Clinical and metabolic correction of pompe disease by enzyme therapy in acid maltase-deficient quail

7 January 2021

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Recombinant human acid alpha-glucosidase: high level production in mouse milk, biochemical characteristics, correction of enzyme deficiency in GSDII KO mice

7 January 2021

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Expression of cDNA-encoded human acid alpha-glucosidase in milk of transgenic mice

7 January 2021

1 reference

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Recombinant human acid alpha-glucosidase corrects acid alpha-glucosidase-deficient human fibroblasts, quail fibroblasts, and quail myoblasts

7 January 2021

1 reference

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

7 January 2021

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

7 January 2021

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

7 January 2021

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

7 January 2021

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Nephrotic syndrome complicating alpha-glucosidase replacement therapy for Pompe disease

7 January 2021

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

7 January 2021

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Enzyme replacement therapy in the mouse model of Pompe disease

7 January 2021

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

7 January 2021

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Chemical chaperones improve transport and enhance stability of mutant alpha-glucosidases in glycogen storage disease type II

7 January 2021

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Pharmacological enhancement of mutated alpha-glucosidase activity in fibroblasts from patients with Pompe disease

7 January 2021

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Adenovirus-mediated transfer of the acid alpha-glucosidase gene into fibroblasts, myoblasts and myotubes from patients with glycogen storage disease type II leads to high level expression of enzyme and corrects glycogen accumulation

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.07.009

Intercellular transfer of the virally derived precursor form of acid alpha-glucosidase corrects the enzyme deficiency in inherited cardioskeletal myopathy Pompe disease

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.07.009

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 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.07.009

Glycogen stored in skeletal but not in cardiac muscle in acid alpha-glucosidase mutant (Pompe) mice is highly resistant to transgene-encoded human enzyme

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.07.009

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.07.009

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.07.009

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.07.009

Muscle-specific promoters may be necessary for adeno-associated virus-mediated gene transfer in the treatment of muscular dystrophies.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.07.009

AAV2 vector harboring a liver-restricted promoter facilitates sustained expression of therapeutic levels of alpha-galactosidase A and the induction of immune tolerance in Fabry mice.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.07.009

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.07.009

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.07.009

Occurrence of leukaemia following gene therapy of X-linked SCID.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.07.009

A pilot study of in vivo liver-directed gene transfer with an adenoviral vector in partial ornithine transcarbamylase deficiency

7 January 2021

1 reference

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An overview of current delivery systems in cancer gene therapy

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.07.009

Design of a nonviral vector for site-selective, efficient integration into the human genome

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.07.009

Intracellular delivery of proteins with a new lipid-mediated delivery system

7 January 2021

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Clinical gene therapy for brain tumors. Liposomal delivery of anticancer molecule to glioma

7 January 2021

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Highly efficient endogenous human gene correction using designed zinc-finger nucleases

7 January 2021

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Custom zinc-finger nucleases for use in human cells.

7 January 2021

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A new diagnostic assay for glycogen storage disease type II in mixed leukocytes.

7 January 2021

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