"Metabolic Myopathy" search results...

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

Mild disease course of SARS-CoV-2 infections and mild side effects of vaccination in Pompe disease: A cohort description

2022-03-04

In the light of this research, it is aimed to gather information about the course of SARS-CoV-2 infection and side effects of COVID-19 vaccinations in patients with Glycogen Storage Disease type II (GSDII).

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.

Rare Diseases

Current bibliography for experts

Rare Diseases

Current bibliography for experts

POMPE

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

POMPE

Mild disease course of SARS-CoV-2 infections and mild side effects of vaccination in Pompe disease: A cohort description

POMPE

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

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