(Q37580121)

21 August 2017

Glycogenosome accumulation in the arrector pili muscle in Pompe disease (English)

1 reference

21 August 2017

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24495340%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

author name string

Joachim Weis

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24495340%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

Frank Hanisch

series ordinal

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24495340%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

language of work or name

1 reference

5 February 2014

1 reference

Orphanet Journal of Rare Diseases

21 August 2017

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24495340%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

volume

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24495340%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

page(s)

17

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24495340%20AND%20SRC:MED&resulttype=core&format=json

https://scigraph.springernature.com/pub.10.1186/1750-1172-9-17

4 June 2020

exact match

0 references

cites work

Diagnosis of Pompe disease: muscle biopsy vs blood-based assays

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3922310

The role of autophagy in the pathogenesis of glycogen storage disease type II (GSDII).

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3922310

Suppression of autophagy permits successful enzyme replacement therapy in a lysosomal storage disorder--murine Pompe disease

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3922310

Regulation mechanisms and signaling pathways of autophagy

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3922310

Lysosomal myopathies: an excessive build-up in autophagosomes is too much to handle.

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3922310

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

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3922310

Pompe disease diagnosis and management guideline.

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3922310

Pathological features of glycogen storage disease type II highlighted in the knockout mouse model

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3922310

Adult polyglucosan body myopathy with subclinical peripheral neuropathy: case report and review of diseases associated with polyglucosan body accumulation

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3922310

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.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3922310

Dystrophinopathy diagnosis made easy: skin biopsy, an emerging novel tool.

25 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3922310

Abnormalities of cerebral arteries are frequent in patients with late-onset Pompe disease.

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3922310

Diagnostic criteria for late-onset (childhood and adult) Pompe disease

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3922310

Diagnostic utility of skin biopsy in dystrophinopathies.

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3922310

Dilative arteriopathy and basilar artery dolichoectasia complicating late-onset Pompe disease.

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3922310

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

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3922310

Small-fiber neuropathy in patients with ALS

1 September 2018

1 reference

Crossref

https://api.crossref.org/works/10.1186%2F1750-1172-9-17

Pompe disease: dramatic improvement in gastrointestinal function following enzyme replacement therapy. A report of three later-onset patients

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24495340

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Morphological changes in muscle tissue of patients with infantile Pompe's disease receiving enzyme replacement therapy

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24495340

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

The pattern of involvement of adult-onset acid maltase deficiency at autopsy

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24495340

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1186/1750-1172-9-17

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24495340%20AND%20SRC:MED&resulttype=core&format=json

Dimensions Publication ID

4 June 2020

0 references

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24495340%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24495340%20AND%20SRC:MED&resulttype=core&format=json