(Q37040458)

17 August 2017

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

1 reference

17 August 2017

Priya S Kishnani

1

1 reference

17 August 2017

Paula C Goldenberg

2

1 reference

17 August 2017

Stephanie L DeArmey

3

1 reference

17 August 2017

James Heller

4

1 reference

17 August 2017

Danny Benjamin

5

1 reference

17 August 2017

Sarah Young

6

1 reference

17 August 2017

Deeksha Bali

7

1 reference

17 August 2017

Sue Ann Smith

8

1 reference

17 August 2017

Jennifer S Li

9

1 reference

17 August 2017

Hanna Mandel

10

1 reference

17 August 2017

Dwight Koeberl

11

1 reference

17 August 2017

Amy Rosenberg

12

1 reference

17 August 2017

Y-T Chen

13

1 reference

17 August 2017

1 January 2010

1 reference

Molecular Genetics and Metabolism

17 August 2017

1 reference

17 August 2017

99

1 reference

17 August 2017

1

1 reference

17 August 2017

26-33

1 reference

Update of the Pompe disease mutation database with 107 sequence variants and a format for severity rating

17 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3721340

Enhanced response to enzyme replacement therapy in Pompe disease after the induction of immune tolerance

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3721340

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=3721340

Genetic risk factors for inhibitors to factors VIII and IX.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3721340

The long-term international safety experience of imiglucerase therapy for Gaucher 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=3721340

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=3721340

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=3721340

Rituximab can be combined with daily plasma exchange to achieve effective B-cell depletion and clinical improvement in acute autoimmune TTP.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3721340

Long-term safety and efficacy of enzyme replacement therapy for Fabry 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=3721340

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3721340

Successful induction of immune tolerance to enzyme replacement therapy in canine mucopolysaccharidosis I

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3721340

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3721340

Successful treatment of severe thrombotic thrombocytopenic purpura with the monoclonal antibody rituximab

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3721340

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3721340

Frequency of glycogen storage disease type II in The Netherlands: implications for diagnosis and genetic counselling

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3721340

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3721340

Left ventricular myocardial mass determined by cross-sectional echocardiography in normal newborns, infants, and children

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3721340

Isolation and characterisation of a recombinant, precursor form of lysosomal acid alpha-glucosidase

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3721340

Enzyme replacement therapy in patients who have mucopolysaccharidosis I and are younger than 5 years: results of a multinational study of recombinant human alpha-L-iduronidase (laronidase).

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3721340

Clinical outcomes after long-term treatment with alglucosidase alfa in infants and children with advanced Pompe 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=3721340

Elimination of antibodies to recombinant enzyme in Pompe's 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=3721340

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=3721340

Immune tolerance induction to enzyme-replacement therapy by co-administration of short-term, low-dose methotrexate in a murine Pompe disease model

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3721340

A retrospective, multinational, multicenter study on the natural history of infantile-onset 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=3721340

Electrocardiographic 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=3721340

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

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3721340

Enzyme therapy for Fabry disease: neutralizing antibodies toward agalsidase alpha and beta

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3721340

Enzyme replacement therapy for mucopolysaccharidosis I: a randomized, double-blinded, placebo-controlled, multinational study of recombinant human alpha-L-iduronidase (laronidase).

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3721340

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

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3721340

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

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3721340

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

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3721340

Factor IX inhibitors and anaphylaxis in hemophilia B.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3721340

Factor VIII gene inversions in severe hemophilia A: results of an international consortium study.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3721340

Differential muscular glycogen clearance after enzyme replacement therapy in a mouse model of Pompe disease

4 September 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.08.003

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.2009.08.003

Nonparametric Estimation from Incomplete Observations

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.08.003

Mutation analysis of the acid beta-glucosidase gene in a patient with type 3 Gaucher disease and neutralizing antibody to alglucerase

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.08.003

Induction of Immunological Tolerance/Hyporesponsiveness in Baboons with a Nondepleting CD4 Antibody

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.08.003

Methotrexate reduces antibody responses to recombinant human alpha-galactosidase A therapy in a mouse model of Fabry disease

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.08.003

Nephrotic syndrome complicating alpha-glucosidase replacement therapy for Pompe disease

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.08.003

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.08.003

10.1016/J.YMGME.2009.08.003

7 January 2021

Identifiers

DOI

1 reference

release_3gqufzknlzdvhlnftlgbsf6et4

17 August 2017

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/3gqufzknlzdvhlnftlgbsf6et4

mapped directly with Wikidata item

24 November 2022

based on heuristic

1 reference

17 August 2017

1 reference