"Late-onset Pompe Disease" search results...

POMPE

Development of a clinically validated in vitro functional assay to assess the pathogenicity of novel GAA variants in patients with Pompe disease

2022-09-30

There is an unmet need for validated functional studies to aid in classification of GAA variants.

POMPE

Case Report: Identification of Compound Heterozygous Mutations in a Patient With Late-Onset Glycogen Storage Disease Type II (Pompe Disease)

2022-03-21

Mutational analysis of GAA and muscle biopsy are crucial in the diagnosis of Pompe disease.

POMPE

Early clinical phenotype of late onset Pompe disease: Lessons learned from newborn screening

2022-03-01

Careful physical therapy evaluation is necessary to monitor for subtle musculoskeletal signs that may reflect early muscle involvement in late onset Pompe disease patients.

POMPE

COVID-19 infection in patients with late-onset Pompe disease

2021-12-24

Individuals with late-onset Pompe disease (LOPD) remain at high risk and should receive COVID-19 vaccinations and exercise precautions to avoid exposure to COVID-19 infection.

POMPE

Motor and respiratory decline in patients with late onset Pompe disease after cessation of enzyme replacement therapy during COVID-19 pandemic

2021-12-20

This national study based on data from the French Pompe Registry shows that the interruption of ERT, even as short as a few months, worsens Pompe patients' motor and respiratory function.

POMPE

Clinical manifestations and acid alpha-glucosidase mutation characterization of a cohort of patients with late-onset Pompe disease in eastern China

2021-12-01

This study has identified four novel variants in patients with LOPD. The c.2238G>C (p.W746C) mutation was the most common mutation in 14 patients with LOPD from eastern China.

POMPE

Late Onset Pompe Disease with Novel Mutations and Atypical Phenotypes

2021-11-30

This study describes the unusual clinical, biochemical, histopathological and genetic characteristics of 5 cases of LOPD.

POMPE

Effects of short-to-long term enzyme replacement therapy (ERT) on skeletal muscle tissue in late onset Pompe disease (LOPD)

2021-08-01

The goal of this study was to look at ERT-related skeletal muscle alterations as well as the connection between morphological/biochemical changes and clinical outcomes in patients with late-onset Pompe disease (LOPD). In the majority of LOPD patients, ERT improved skeletal muscle pathology, as well as motor and respiratory outcomes.

POMPE

Tongue weakness and atrophy differentiates late-onset Pompe disease from other forms of acquired/hereditary myopathy

2021-07-01

In Late-onset Pompe disease (LOPD), tongue weakness and imaging abnormalities are increasingly recognized. Quantitative tongue weakness and/or atrophy may help distinguish LOPD from other acquired/hereditary myopathies.

POMPE

Phenotypic Implications of Pathogenic Variant Types in Pompe Disease

2021-05-11

In Pompe disease, it is crucial to figure out whether enzyme activity or the type of pathogenic genetic variant in GAA best predicts phenotypic severity. Complete genetic, cardiac, and neurological examinations are critical for newly identified Pompe disease patients.

POMPE

Higher dosing of alglucosidase alfa improves outcomes in children with Pompe disease: a clinical study and review of the literature

2021-05-01

This study reports the effects of higher recombinant human acid-α glucosidase (rhGAA) dosing regimen on clinical outcomes, efficacy, and safety profile in patients with IPD and early-onset LOPD. It is shown that in early-onset Pompe disease, higher rhGAA doses are safe, and improve gross motor outcomes, lingual ability, pulmonary function tests, and biochemical markers.

POMPE

Rare Variants in Autophagy and Non-Autophagy Genes in Late-Onset Pompe Disease: Suggestions of Their Disease-Modifying Role in Two Italian Families

2021-03-31

This study emphasizes the multisystem nature of late-onset type of Pompe disease (LOPD) and highlights the polygenic nature of the complex phenotype disclosed in these patients.

Rare Diseases

Current bibliography for experts

Rare Diseases

Current bibliography for experts

POMPE

Development of a clinically validated in vitro functional assay to assess the pathogenicity of novel GAA variants in patients with Pompe disease

POMPE

Case Report: Identification of Compound Heterozygous Mutations in a Patient With Late-Onset Glycogen Storage Disease Type II (Pompe Disease)

POMPE

Early clinical phenotype of late onset Pompe disease: Lessons learned from newborn screening

POMPE

COVID-19 infection in patients with late-onset Pompe disease

POMPE

Motor and respiratory decline in patients with late onset Pompe disease after cessation of enzyme replacement therapy during COVID-19 pandemic

POMPE

Clinical manifestations and acid alpha-glucosidase mutation characterization of a cohort of patients with late-onset Pompe disease in eastern China

POMPE

Late Onset Pompe Disease with Novel Mutations and Atypical Phenotypes

POMPE

Effects of short-to-long term enzyme replacement therapy (ERT) on skeletal muscle tissue in late onset Pompe disease (LOPD)

POMPE

Tongue weakness and atrophy differentiates late-onset Pompe disease from other forms of acquired/hereditary myopathy

POMPE

Phenotypic Implications of Pathogenic Variant Types in Pompe Disease

POMPE

Higher dosing of alglucosidase alfa improves outcomes in children with Pompe disease: a clinical study and review of the literature

POMPE

Rare Variants in Autophagy and Non-Autophagy Genes in Late-Onset Pompe Disease: Suggestions of Their Disease-Modifying Role in Two Italian Families

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