(Q61851023)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18930676%20AND%20SRC:MED&resulttype=core&format=json

24 December 2019

title

Improvement with ongoing Enzyme Replacement Therapy in advanced late-onset Pompe disease: a case study (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18930676%20AND%20SRC:MED&resulttype=core&format=json

24 December 2019

1

1 reference

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24 December 2019

author name string

Deeksha Bali

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18930676%20AND%20SRC:MED&resulttype=core&format=json

24 December 2019

Joanne Mackey

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18930676%20AND%20SRC:MED&resulttype=core&format=json

24 December 2019

Dwight D Koeberl

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18930676%20AND%20SRC:MED&resulttype=core&format=json

24 December 2019

Sarah P Young

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18930676%20AND%20SRC:MED&resulttype=core&format=json

24 December 2019

Stephanie M DeArmey

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18930676%20AND%20SRC:MED&resulttype=core&format=json

24 December 2019

Priya S Kishnani

7

1 reference

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24 December 2019

publication date

18 October 2008

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18930676%20AND%20SRC:MED&resulttype=core&format=json

Molecular Genetics and Metabolism

24 December 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18930676%20AND%20SRC:MED&resulttype=core&format=json

24 December 2019

volume

95

1 reference

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24 December 2019

issue

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18930676%20AND%20SRC:MED&resulttype=core&format=json

24 December 2019

page(s)

233-235

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18930676%20AND%20SRC:MED&resulttype=core&format=json

Pompe disease in infants and children

24 December 2019

cites work

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.09.001

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.09.001

Clinical variability in adult-onset acid maltase deficiency: report of affected sibs and review of the literature

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.09.001

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.09.001

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.09.001

Adult onset acid maltase deficiency. Distribution and progression of clinical and pathological abnormality in a family

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.09.001

Disease severity in children and adults with Pompe disease related to age and disease duration

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.09.001

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

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.09.001

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

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.09.001

Enzyme replacement therapy in classical infantile pompe disease: results of a ten-month follow-up study

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.09.001

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.09.001

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.09.001

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.09.001

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.09.001

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.09.001

Pompe disease diagnosis and management guideline.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.09.001

Physical therapy management of Pompe disease

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.09.001

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.09.001

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.09.001

Enzyme replacement therapy in the mouse model of Pompe disease

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.09.001

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

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.09.001

Glycogen storage disease types I and II: treatment updates

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.09.001

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.09.001

10.1016/J.YMGME.2008.09.001

7 January 2021

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18930676%20AND%20SRC:MED&resulttype=core&format=json

24 December 2019

1 reference