(Q38176598)

30 August 2017

1 reference

17 June 2019

Non-muscle involvement in late-onset glycogenosis II. (English)

1 reference

glycogen storage disease II

30 August 2017

1 reference

17 June 2019

1 reference

17 June 2019

neurological disorder

1 reference

17 June 2019

1 reference

17 June 2019

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24399865%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

Maria Sofia Cotelli

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24399865%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

author name string

Alice Todeschini

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24399865%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

Valentina Vielmi

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24399865%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

Fabrizio Rinaldi

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24399865%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

Silvia Rota

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24399865%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

Mauro Scarpelli

7

1 reference

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31 May 2020

Alessandro Padovani

8

1 reference

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31 May 2020

publication date

1 October 2013

8 references

30 August 2017

14 March 2019

13 March 2019

21 March 2019

24 March 2019

22 April 2019

25 April 2019

17 June 2019

8 references

14 March 2019

13 March 2019

21 March 2019

24 March 2019

22 April 2019

25 April 2019

17 June 2019

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24399865%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

volume

32

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24399865%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

issue

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24399865%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

page(s)

91-94

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24399865%20AND%20SRC:MED&resulttype=core&format=json

Creative Commons Attribution-NonCommercial-NoDerivs 3.0 Unported

31 May 2020

copyright license

7 references

14 March 2019

13 March 2019

21 March 2019

24 March 2019

22 April 2019

25 April 2019

on focus list of Wikimedia project

17 June 2019

ScienceSource

0 references

cites work

The respiratory neuromuscular system in Pompe disease

1 reference

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In vivo bone architecture in pompe disease using high-resolution peripheral computed tomography

6 September 2017

1 reference

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The emerging phenotype of long-term survivors with infantile Pompe disease.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3866903

Low bone mass in Pompe disease: muscular strength as a predictor of bone mineral density

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3866903

Neural deficits contribute to respiratory insufficiency in Pompe disease

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3866903

Lysosomal storage diseases and the blood-brain barrier

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3866903

Fatigue: an important feature of late-onset Pompe disease

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3866903

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3866903

Intractable fever and cortical neuronal glycogen storage in glycogenosis type 2.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3866903

Obstructive sleep apnea syndrome in acid maltase deficiency.

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3866903

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

23 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3866903

Systemic metabolic abnormalities in adult-onset acid maltase deficiency: beyond muscle glycogen accumulation

23 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3866903

The brain in late-onset glycogenosis II: a structural and functional MRI study.

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3866903

Hemangioma of the semimembranosus muscle in a patient with late-onset glycogenosis II.

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3866903

Auditory system involvement in late onset Pompe disease: a study of 20 Italian patients.

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3866903

Cognitive outcome of patients with classic infantile Pompe disease receiving enzyme therapy.

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3866903

Mass spectrometric quantification of glycogen to assess primary substrate accumulation in the Pompe mouse.

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3866903

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

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3866903

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

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3866903

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

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3866903

POMPE'S DISEASE (DIFFUSE GLYCOGENOSIS) WITH NEURONAL STORAGE

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3866903

Sleep-disordered breathing and respiratory failure in acid maltase deficiency.

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3866903

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

31 August 2018

1 reference

12 December 2020

Glycogen storage disease associated with left ventricular aneurysm in an elderly patient

1 reference

12 December 2020

Renal magnesium wasting, hypomagnesemic hypocalcemia, hypocalciuria and osteopenia in a patient with glycogenosis type II

1 reference

12 December 2020

Body composition analysis in late-onset Pompe disease

1 reference

12 December 2020

Glycogenosis type II (Pompe's disease): Ultrastructure of peripheral nerves

1 reference

12 December 2020

Identifiers

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24399865%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

1 reference