"Geç Başlangıçlı Pompe Hastalığı" 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

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

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

Quantitative whole-body magnetic resonance imaging in children with Pompe disease

2020-10-14

This article reports a measure of muscle fat infiltration in children with infantile and pediatric late-onset Pompe disease (IPD and LOPD, respectively) to better understand the extent of muscle involvement.

POMPE

Multisystem late onset Pompe disease (LOPD): An update on clinical aspects

2019-07-01

Although Pompe disease was once thought to be predominantly a muscle disorder, it is now obvious that there is involvement of multiple other organs. Great efforts have been made for clarifying the clinical aspects of Pompe disease, raising awareness of the challenges that LOPD patients face, and improving their quality of life.

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

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

Late Onset Pompe Disease with Novel Mutations and Atypical Phenotypes

POMPE

Quantitative whole-body magnetic resonance imaging in children with Pompe disease

POMPE

Multisystem late onset Pompe disease (LOPD): An update on clinical aspects

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