CRIM-negative infantile Pompe disease: 42-month treatment outcome. (Q50436382)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20882352%20AND%20SRC:MED&resulttype=core&format=json

14 February 2020

title

CRIM-negative infantile Pompe disease: 42-month treatment outcome (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20882352%20AND%20SRC:MED&resulttype=core&format=json

14 February 2020

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20882352%20AND%20SRC:MED&resulttype=core&format=json

14 February 2020

Roger Lauener

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20882352%20AND%20SRC:MED&resulttype=core&format=json

14 February 2020

Matthias R Baumgartner

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20882352%20AND%20SRC:MED&resulttype=core&format=json

14 February 2020

Marianne Rohrbach

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20882352%20AND%20SRC:MED&resulttype=core&format=json

14 February 2020

author name string

Andrea Klein

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20882352%20AND%20SRC:MED&resulttype=core&format=json

14 February 2020

Alice Köhli-Wiesner

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20882352%20AND%20SRC:MED&resulttype=core&format=json

14 February 2020

Dorothe Veraguth

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20882352%20AND%20SRC:MED&resulttype=core&format=json

14 February 2020

Ianina Scheer

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20882352%20AND%20SRC:MED&resulttype=core&format=json

14 February 2020

publication date

30 September 2010

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20882352%20AND%20SRC:MED&resulttype=core&format=json

Journal of Inherited Metabolic Disease

14 February 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20882352%20AND%20SRC:MED&resulttype=core&format=json

14 February 2020

volume

33

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20882352%20AND%20SRC:MED&resulttype=core&format=json

14 February 2020

issue

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20882352%20AND%20SRC:MED&resulttype=core&format=json

14 February 2020

page(s)

751-757

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20882352%20AND%20SRC:MED&resulttype=core&format=json

https://scigraph.springernature.com/pub.10.1007/s10545-010-9209-0

14 February 2020

exact match

0 references

cites work

The spectrum and diagnosis of acid maltase deficiency.

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FS10545-010-9209-0

Pompe disease in infants and children

21 January 2018

1 reference

12 December 2020

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

1 reference

12 December 2020

Brain development in infantile-onset Pompe disease treated by enzyme replacement therapy.

1 reference

12 December 2020

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

1 reference

12 December 2020

Glycogenosis type II (Pompe). The fourth autopsy case in Japan.

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Detection of a homozygous D645E mutation of the acid alpha-glucosidase gene and glycogen deposition in tissues in a second-trimester fetus with infantile glycogen storage disease type II.

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Pompe's disease: an inborn lysosomal disorder with storage of glycogen. A study of brain and striated muscle.

1 reference

12 December 2020

Nervous system in Pompe's disease. Ultrastructure and biochemistry

1 reference

12 December 2020

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

1 reference

12 December 2020

Methods for a prompt and reliable laboratory diagnosis of Pompe disease: report from an international consensus meeting

1 reference

12 December 2020

NEUROPATHOLOGICAL AND NEUROCHEMICAL ASPECTS OF GENERALIZED GLYCOGEN STORAGE DISEASE

1 reference

12 December 2020

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

1 reference

12 December 2020

POMPE'S DISEASE (DIFFUSE GLYCOGENOSIS) WITH NEURONAL STORAGE

1 reference

12 December 2020

Temporal neuropathologic and behavioral phenotype of 6neo/6neo Pompe disease mice

1 reference

12 December 2020

Acute progression of neuromuscular findings in infantile Pompe disease.

1 reference

12 December 2020

Cerebral MR manifestations of Pompe disease in an infant.

1 reference

12 December 2020

Elimination of antibodies to recombinant enzyme in Pompe's disease.

1 reference

12 December 2020

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

1 reference

12 December 2020

Hearing loss in infantile Pompe's disease and determination of underlying pathology in the knockout mouse

1 reference

12 December 2020