The respiratory neuromuscular system in Pompe disease (Q38116744)

29 August 2017

The respiratory neuromuscular system in Pompe disease (English)

1 reference

29 August 2017

David D Fuller

1

1 reference

29 August 2017

Mai K ElMallah

2

1 reference

29 August 2017

Barbara K Smith

3

1 reference

29 August 2017

Manuela Corti

4

1 reference

29 August 2017

Lee Ann Lawson

5

1 reference

29 August 2017

Darin J Falk

6

1 reference

29 August 2017

Barry J Byrne

7

1 reference

29 August 2017

21 June 2013

1 reference

Respiratory Physiology & Neurobiology

29 August 2017

1 reference

29 August 2017

189

1 reference

29 August 2017

2

1 reference

29 August 2017

241-249

1 reference

Phase I/II trial of adeno-associated virus-mediated alpha-glucosidase gene therapy to the diaphragm for chronic respiratory failure in Pompe disease: initial safety and ventilatory outcomes

29 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4083814

Intermittent hypoxia and stem cell implants preserve breathing capacity in a rodent model of amyotrophic lateral sclerosis

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4083814

Glycosylation-independent lysosomal targeting of acid α-glucosidase enhances muscle glycogen clearance in pompe mice

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4083814

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4083814

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4083814

Neuroventilatory efficiency and extubation readiness in critically ill patients

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4083814

Retrograde gene delivery to hypoglossal motoneurons using adeno-associated virus serotype 9.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4083814

The genotype-phenotype correlation 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=4083814

Spinal Delivery of AAV Vector Restores Enzyme Activity and Increases Ventilation in Pompe Mice

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4083814

Hypoglossal neuropathology and respiratory activity in pompe mice

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4083814

Pompe disease gene therapy.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4083814

Hearing loss in Pompe disease revisited: results from a study of 24 children

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4083814

Pathophysiology of neuropathic lysosomal storage disorders

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4083814

A randomized study of alglucosidase alfa in late-onset Pompe's 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=4083814

Gel-mediated delivery of AAV1 vectors corrects ventilatory function in Pompe mice with established 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=4083814

Therapy for lysosomal storage disorders

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4083814

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=4083814

Pompe disease: a neuromuscular disease with respiratory muscle involvement

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4083814

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4083814

Chinese hamster ovary cell-derived recombinant human acid alpha-glucosidase in infantile-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=4083814

Looking for inspiration: new perspectives on respiratory rhythm.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4083814

Activation of XII motoneurons and premotor neurons during various oropharyngeal behaviors

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4083814

Infantile onset Pompe disease: a report of physician narratives from an epidemiologic study

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4083814

Glycogen disease resembling mongolism, cretinism, and amytonia congenita; case report and review of literature

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4083814

Glycogen disease of skeletal muscle; report of two cases and review of literature

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4083814

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4083814

Breathing: rhythmicity, plasticity, chemosensitivity

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4083814

Acid alpha-glucosidase deficiency (glycogenosis type II, 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=4083814

Conditional tissue-specific expression of the acid alpha-glucosidase (GAA) gene in the GAA knockout mice: implications for therapy

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4083814

Recombinant human acid alpha-glucosidase enzyme therapy for infantile glycogen storage disease type II: results of a phase I/II 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=4083814

Targeted disruption of the acid alpha-glucosidase gene in mice causes an illness with critical features of both infantile and adult human glycogen storage disease type II

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4083814

Clinical and metabolic correction of pompe disease by enzyme therapy in acid maltase-deficient quail

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4083814

Infantile acid maltase deficiency. III. Ultrastructure of metachromatic material and glycogen in muscle fibers

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4083814

Acid maltase deficiency: a case study and review of the pathophysiological changes and proposed therapeutic measures

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4083814

New tests to assess lung function: occlusion pressure--a simple measure of the respiratory center's output

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4083814

The pathology of type II skeletal muscle glycogenosis. A light and electron-microscopic study

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4083814

Characterization of pre- and post-treatment pathology after enzyme replacement therapy for 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=4083814

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

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4083814

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

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4083814

Enzyme replacement in Pompe disease: an attempt with purified human acid alpha-glucosidase

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4083814

Alglucosidase alfa: Long term use in the treatment of patients with Pompe disease

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4083814

alpha-Glucosidase deficiency in generalized glycogenstorage disease (Pompe's disease).

23 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4083814

23 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4083814

Obstructive sleep apnea syndrome in acid maltase deficiency

23 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4083814

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=4083814

Biosynthesis and transport of lysosomal alpha-glucosidase in the human colon carcinoma cell line Caco-2: secretion from the apical surface

23 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4083814

The influence of lysosomes on glycogen metabolism

23 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4083814

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

23 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4083814

Update of the pompe disease mutation database with 60 novel GAA sequence variants and additional studies on the functional effect of 34 previously reported variants

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4083814

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

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4083814

Acute progression of neuromuscular findings in infantile 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=4083814

Oropharyngeal dysphagia in infants and children with infantile 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=4083814

Physiological correction of Pompe disease by systemic delivery of adeno-associated virus serotype 1 vectors

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4083814

Respiratory insufficiency and limb muscle weakness in adults with Pompe's 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=4083814

Disease severity in children and adults with Pompe disease related to age and disease duration

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4083814

Respiratory failure in Pompe disease: treatment with noninvasive ventilation

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4083814

Infantile-onset glycogen storage disease type II (Pompe disease): report of a case with genetic diagnosis and pathological findings.

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4083814

Enzyme replacement therapy in the mouse model of 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=4083814

Coordination of intrinsic and extrinsic tongue muscles during spontaneous breathing in the rat.

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4083814

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=4083814

Pompe disease and physical disability

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4083814

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=4083814

Recombinant human alpha-glucosidase from rabbit milk in Pompe 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=4083814

Frequency of mutations for glycogen storage disease type II in different populations: the delta525T and deltaexon 18 mutations are not generally "common" in white populations.

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4083814

Nervous system in Pompe's disease. Ultrastructure and biochemistry

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4083814

Obstructive sleep apnea syndrome

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4083814

Pompe disease: Design, methodology, and early findings from the Pompe Registry

3 December 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4083814

Supine volume drop and diaphragmatic function in adults with Pompe disease

3 December 2018

1 reference

12 December 2020

AN ELECTRON MICROSCOPIC AND BIOCHEMICAL STUDY OF TYPE II GLYCOGENOSIS

1 reference

12 December 2020

Pathogenesis of upper airway occlusion during sleep

1 reference

12 December 2020

1 reference

12 December 2020

The precursor of acid alpha-glucosidase is synthesized as a membrane-bound enzyme

1 reference

12 December 2020

Pathophysiology of obstructive sleep apnea

1 reference

12 December 2020

Expanding the phenotype of late‐onset pompe disease: Tongue weakness: A new clinical observation

1 reference

12 December 2020

Generalized glycogen storage disease in Japanese quail (Coturnix coturnix japonica)

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

Human acid alpha-glucosidase from rabbit milk has therapeutic effect in mice with glycogen storage disease type II

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

[Three hypotonic neonates with hypertrophic cardiomyopathy: Pompe's disease]

1 reference

12 December 2020

Effect of co-activation of tongue protrudor and retractor muscles on tongue movements and pharyngeal airflow mechanics in the rat

1 reference

12 December 2020

[Enzymes and glycogen structure in glycogenosis]

1 reference

12 December 2020

[Glycogenesis Type II (M. Pompe). Selective failure of the respiratory musculature--a rare first symptom]

1 reference

12 December 2020

Regulation of lysosomal glycogen metabolism: studies of the actions of mammalian acid alpha-glucosidases

1 reference

12 December 2020

Increased inspiratory and expiratory muscle strength following respiratory muscle strength training (RMST) in two patients with late-onset Pompe disease

1 reference

12 December 2020

10.1016/J.RESP.2013.06.007

Identifiers

DOI

1 reference

release_jysqatsgpzc7npxmwxsx5csvra

29 August 2017

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/jysqatsgpzc7npxmwxsx5csvra

24 November 2022

mapped directly with Wikidata item

1 reference

29 August 2017

PubMed publication ID

23797185

1 reference