Clinical and molecular aspects of 30 patients with late-onset Pompe disease (LOPD): unusual features and response to treatment (Q41448556)

30 September 2017

title

Clinical and molecular aspects of 30 patients with late-onset Pompe disease (LOPD): unusual features and response to treatment (English)

1 reference

30 September 2017

4

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2 June 2020

Alba Migliorato

5

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2 June 2020

Carmelo Rodolico

7

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2 June 2020

author name string

Federica Montagnese

1

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2 June 2020

E Barca

2

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2 June 2020

O Musumeci

3

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2 June 2020

A Ciranni

6

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2 June 2020

P De Filippi

8

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2 June 2020

C Danesino

9

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2 June 2020

A Toscano

10

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2 June 2020

publication date

12 February 2015

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30 September 2017

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2 June 2020

volume

262

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2 June 2020

issue

4

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2 June 2020

page(s)

968-978

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https://scigraph.springernature.com/pub.10.1007/s00415-015-7664-0

2 June 2020

exact match

0 references

cites work

Glycogen storage disease type II: frequency of three common mutant alleles and their associated clinical phenotypes studied in 121 patients

1 reference

https://api.crossref.org/works/10.1007%2FS00415-015-7664-0

Glycogenosis type II (acid maltase deficiency)

21 January 2018

2 references

https://api.crossref.org/works/10.1007%2FS00415-015-7664-0

21 January 2018

12 December 2020

https://api.crossref.org/works/10.1007%2FS00415-015-7664-0

1 reference

Mutation profile of the GAA gene in 40 Italian patients with late onset glycogen storage disease type II

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-015-7664-0

A cross-sectional single-centre study on the spectrum of Pompe disease, German patients: molecular analysis of the GAA gene, manifestation and genotype-phenotype correlations

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-015-7664-0

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-015-7664-0

The genotype-phenotype correlation in Pompe disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-015-7664-0

Late-onset Pompe disease (LOPD): correlations between respiratory muscles CT and MRI features and pulmonary function.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-015-7664-0

A randomized study of alglucosidase alfa in late-onset Pompe's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-015-7664-0

Open-label extension study following the Late-Onset Treatment Study (LOTS) of alglucosidase alfa

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-015-7664-0

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.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-015-7664-0

Observational clinical study in juvenile-adult glycogenosis type 2 patients undergoing enzyme replacement therapy for up to 4 years.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-015-7664-0

Enzyme replacement therapy in late-onset Pompe disease: a systematic literature review

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-015-7664-0

Consensus treatment recommendations for late-onset Pompe disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-015-7664-0

Extended phenotype description and new molecular findings in late onset glycogen storage disease type II: a northern Italy population study and review of the literature

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-015-7664-0

Clinical features and predictors for disease natural progression in adults with Pompe disease: a nationwide prospective observational study

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-015-7664-0

Effect of enzyme therapy and prognostic factors in 69 adults with Pompe disease: an open-label single-center study

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-015-7664-0

Functional characterization of the common c.-32-13T>G mutation of GAA gene: identification of potential therapeutic agents

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-015-7664-0

Aberrant splicing in adult onset glycogen storage disease type II (GSDII): molecular identification of an IVS1 (-13T-->G) mutation in a majority of patients and a novel IVS10 (+1GT-->CT) mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-015-7664-0

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-015-7664-0

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-015-7664-0

Bone density in patients with late onset Pompe disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-015-7664-0

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-015-7664-0

Urge incontinence and gastrointestinal symptoms in adult patients with pompe disease: a cross-sectional survey

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-015-7664-0

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-015-7664-0

Hearing in adults with Pompe disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-015-7664-0

PAS-positive lymphocyte vacuoles can be used as diagnostic screening test for Pompe disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-015-7664-0

Oropharyngeal dysphagia may occur in late-onset Pompe disease, implicating bulbar muscle involvement

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-015-7664-0

Prevalence of hearing loss in patients with late-onset Pompe disease: Audiological and otological consequences

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-015-7664-0

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-015-7664-0

Etiology of hippocampal sclerosis: evidence for a predisposing familial morphologic anomaly

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-015-7664-0

MRI evidence of mesial temporal sclerosis in subjects without seizures

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-015-7664-0

Incidental brain MRI abnormalities in 60- to 64-year-old community-dwelling individuals: data from the Personality and Total Health Through Life study

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-015-7664-0

Cessation and resuming of alglucosidase alfa in Pompe disease: a retrospective analysis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-015-7664-0

Effectiveness of enzyme replacement therapy in adults with late-onset Pompe disease: results from the NCS-LSD cohort study.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-015-7664-0

Impact of enzyme replacement therapy on survival in adults with Pompe disease: results from a prospective international observational study

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-015-7664-0

Enzyme replacement therapy improves respiratory outcomes in patients with late-onset type II glycogenosis and high ventilator dependency.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-015-7664-0

Respiratory function in late-onset Pompe disease patients receiving long-term enzyme replacement therapy for more than 48 months

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-015-7664-0

Late onset Pompe disease: Clinical and neurophysiological spectrum of 38 patients including long-term follow-up in 18 patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-015-7664-0

Effects of enzyme replacement therapy on five patients with advanced late-onset glycogen storage disease type II: a 2-year follow-up study

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-015-7664-0

Early is better? A new algorithm for early diagnosis in late onset Pompe disease (LOPD).

21 January 2018

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

Incontinence in Late-Onset Pompe Disease: An Underdiagnosed Treatable Condition

1 reference

12 December 2020

Ptosis as a feature of late-onset glycogenosis type II

1 reference

12 December 2020

Facioscapulohumeral muscular dystrophy in mice overexpressing FRG1

1 reference

12 December 2020

Pompe disease: from pathophysiology to therapy and back again

1 reference

12 December 2020

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

1 reference

12 December 2020

Timing of diagnosis of patients with Pompe disease: data from the Pompe registry

1 reference

12 December 2020

Whole-body muscle MRI in 20 patients suffering from late onset Pompe disease: Involvement patterns

1 reference

12 December 2020

Recombinant human acid alpha-glucosidase (rhGAA) in adult patients with severe respiratory failure due to Pompe disease

1 reference

12 December 2020

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

1 reference

12 December 2020

Molecular diagnosis of German patients with late-onset glycogen storage disease type II

1 reference

12 December 2020

POMPE'S DISEASE (DIFFUSE GLYCOGENOSIS) WITH NEURONAL STORAGE

1 reference

12 December 2020

Molecular genetics of late onset glycogen storage disease II in Italy

1 reference

12 December 2020

Frequent mutations in Japanese patients with acid maltase deficiency

1 reference

12 December 2020

10.1007/S00415-015-7664-0

Identifiers

DOI

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25673129%20AND%20SRC:MED&resulttype=core&format=json

2 June 2020

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