(Q37345062)

19 August 2017

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

1 reference

19 August 2017

1 reference

8

Beth L Thurberg

1 reference

19 August 2017

Richard L Sidman

1

1 reference

19 August 2017

Tatyana Taksir

2

1 reference

19 August 2017

Jonathan Fidler

3

1 reference

19 August 2017

Michael Zhao

4

1 reference

19 August 2017

James C Dodge

5

1 reference

19 August 2017

Marco A Passini

6

1 reference

19 August 2017

Nina Raben

7

1 reference

19 August 2017

Seng H Cheng

9

1 reference

19 August 2017

Lamya S Shihabuddin

10

1 reference

19 August 2017

1 August 2008

1 reference

Journal of Neuropathology & Experimental Neurology

19 August 2017

1 reference

19 August 2017

67

1 reference

19 August 2017

8

1 reference

19 August 2017

803-818

1 reference

Astrocyte glycogen and brain energy metabolism

19 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2743262

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=2743262

Acid alpha-glucosidase deficiency (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=2743262

Recombinant human acid [alpha]-glucosidase: major clinical benefits 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=2743262

Pompe disease (glycogen storage disease type II): clinical features and enzyme replacement 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=2743262

Lysosomal dysfunction, cellular pathology and clinical symptoms: basic principles

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2743262

Enzyme replacement for lysosomal diseases

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2743262

The natural course of non-classic Pompe's disease; a review of 225 published cases

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2743262

Fluoro-Jade C results in ultra high resolution and contrast labeling of degenerating neurons

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2743262

Clinical manifestation and natural course of late-onset Pompe's disease in 54 Dutch 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=2743262

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2743262

Enzyme replacement therapy in late-onset Pompe's disease: a three-year follow-up

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2743262

NEUROPATHOLOGICAL AND NEUROCHEMICAL ASPECTS OF GENERALIZED GLYCOGEN STORAGE 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=2743262

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=2743262

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=2743262

Subventricular zone astrocytes are neural stem cells in the adult mammalian brain

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2743262

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=2743262

Generalized glycogen storage and cardiomegaly in a knockout mouse model of 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=2743262

The effect of a high protein diet on leucine and alanine turnover in acid maltase deficiency

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2743262

High-resolution light microscopy (HRLM) and digital analysis of Pompe disease pathology

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2743262

Characterization of pre- and post-treatment pathology after enzyme replacement therapy for 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=2743262

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=2743262

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=2743262

Ultrastructural Observations on the Retina in Type II Glycogenosis (Pompe’s 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=2743262

Synaptic plasticity (and the lack thereof) in hippocampal CA2 neurons

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2743262

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

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2743262

Use of an amino-cupric-silver technique for the detection of early and semiacute neuronal degeneration caused by neurotoxicants, hypoxia, and physical trauma

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2743262

A modified cupric-silver technique for the impregnation of degenerating neurons and their processes

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2743262

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

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2743262

The spectrum and diagnosis of acid maltase deficiency.

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2743262

Comparative pathology of the canine model of glycogen storage disease type II (Pompe's disease).

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2743262

Long-term enzyme replacement therapy for pompe disease with recombinant human alpha-glucosidase derived from chinese hamster ovary cells.

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2743262

Optimized preservation of CNS morphology for the identification of glycogen in the Pompe mouse model

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2743262

Fluoro-Jade C can specifically stain the degenerative neurons in the substantia nigra of the 1-methyl-4-phenyl-1,2,3,6-tetrahydro pyridine-treated C57BL/6 mice

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2743262

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

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2743262

Dysfunction of endocytic and autophagic pathways in a lysosomal storage disease

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2743262

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

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2743262

Mapping and reconstruction of domoic acid-induced neurodegeneration in the mouse brain

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2743262

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

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2743262

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

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2743262

POMPE'S DISEASE (DIFFUSE GLYCOGENOSIS) WITH NEURONAL STORAGE

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2743262

A unified hypothesis on the lineage of neural stem cells

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2743262

Recombinant human alpha-glucosidase from rabbit milk in Pompe patients.

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2743262

Nervous system in Pompe's disease. Ultrastructure and biochemistry

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2743262

Adult-onset glycogen storage disease type 2: clinico-pathological phenotype revisited

2 September 2018

1 reference

Crossref

https://api.crossref.org/works/10.1097%2FNEN.0B013E3181815994

Glycogen structure and enzyme deficiencies in glycogen storage disease

21 January 2018

1 reference

12 December 2020

OCULAR HISTOPATHOLOGY IN GENERALIZED GLYCOGENOSIS (POMEPE'S DISEASE)

1 reference

12 December 2020

Course of disability and respiratory function in untreated late-onset Pompe disease

1 reference

12 December 2020

Ambulatory electrocardiogram analysis in infants treated with recombinant human acid alpha-glucosidase enzyme replacement therapy for Pompe disease

1 reference

12 December 2020

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

1 reference

12 December 2020

Improvement of muscle function in acid maltase deficiency by high-protein therapy

1 reference

12 December 2020

Fusiform aneurysm of basilar artery and ectatic internal carotid arteries associated with glycogenosis type 2 (Pompe's disease)

1 reference

12 December 2020

Quantitative histological study of the sural nerve in a child with acid maltase deficiency (glycogenosis type II)

1 reference

12 December 2020

Evidence of molecular heterogeneity for generalised glycogenosis between and within breeds of cattle

1 reference

12 December 2020

Integrated evaluation of central nervous system lesions: stains for neurons, astrocytes, and microglia reveal the spatial and temporal features of MK-801-induced neuronal necrosis in the rat cerebral cortex

1 reference

12 December 2020

Pathological study of Japanese quail embryo with acid alpha-glucosidase deficiency during early development

1 reference

12 December 2020

Recombinant human acid alpha-glucosidase: high level production in mouse milk, biochemical characteristics, correction of enzyme deficiency in GSDII KO mice

1 reference

12 December 2020

Increased aortic stiffness in glycogenosis type 2 (Pompe's disease)

1 reference

12 December 2020

10.1097/NEN.0B013E3181815994

Identifiers

DOI

1 reference

19 August 2017

1 reference

19 August 2017

PubMed publication ID

18648322

1 reference