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Last Updated: 09/18/2022

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Found 80 publications

Therapeutic thoroughfares for adults living with Pompe disease.

Summary: Therapeutic thoroughfares for adults living with Pompe disease.

Vibration assisted rehabilitation in patients with Pompe disease: A case series.

Summary: Vibration assisted rehabilitation in patients with Pompe disease: A case series.

Safety and effectiveness of resistance training in patients with late onset Pompe disease - a pilot study.

Summary: Safety and effectiveness of resistance training in patients with late onset Pompe disease - a pilot study.

L-alanine supplementation in Pompe disease (IOPD): a potential therapeutic implementation for patients on ERT? A case report.

Summary: L-alanine supplementation in Pompe disease (IOPD): a potential therapeutic implementation for patients on ERT? A case report.

Long-term effects of enzyme replacement therapy in an elderly cohort of late-onset Pompe disease.

Summary: Long-term effects of enzyme replacement therapy in an elderly cohort of late-onset Pompe disease.

Preclinical Research in McArdle Disease: A Review of Research Models and Therapeutic Strategies.

Summary: Preclinical Research in McArdle Disease: A Review of Research Models and Therapeutic Strategies.

Features of chinese patients with sitosterolemia.

Summary: Features of chinese patients with sitosterolemia.

Adalimumab-induced sensory vasculitic neuropathy.

Summary: Adalimumab-induced sensory vasculitic neuropathy.

Stroke and stroke-like episodes in inborn errors of metabolism: Pathophysiological and clinical implications.

Summary: Stroke and stroke-like episodes in inborn errors of metabolism: Pathophysiological and clinical implications.

Evaluation of Glycogen Storage Patients: Report of Twelve Novel Variants and New Clinical Findings in a Turkish Population.

Summary: Evaluation of Glycogen Storage Patients: Report of Twelve Novel Variants and New Clinical Findings in a Turkish Population.

Application of lung volume reduction surgery for a child with filamin A (FLNA) mutations.

Summary: Application of lung volume reduction surgery for a child with filamin A (FLNA) mutations.

Effect of alglucosidase alfa dosage on survival and walking ability in patients with classic infantile Pompe disease: a multicentre observational cohort study from the European Pompe Consortium.

Summary: Effect of alglucosidase alfa dosage on survival and walking ability in patients with classic infantile Pompe disease: a multicentre observational cohort study from the European Pompe Consortium.
Showing 1-12 of 80

Last Updated: 09/18/2022